Translational pediatrics最新文献

Background: Early menarche is associated with both physical and psychosocial problems. Based on psychological and physical health considerations, for girls with early menarche, some parents and physicians may elect to use gonadotropin-releasing hormone agonists (GnRHa) to delay menstruation. This study aimed to explore the effects of GnRHa treatment on the final height of girls with early menarche and build the models to predict the final adult height (FAH).

Methods: Girls who experienced menarche between the ages of 8 and 10 years and were diagnosed with idiopathic central precocious puberty (ICPP) at Tianjin Medical University General Hospital between July 2017 and August 2023 were included in this study. Participants were divided into two groups based on treatment strategy: GnRHa-treated and GnRHa-untreated groups. Laboratory parameters including growth factors and basal gonadotropins were tested at diagnosis. The heights and weights of the participants were measured every three months. Bone radiographs of the left hand and wrist were assessed by professional appraisers to determine the bone age (BA), which was measured every 6 months after diagnosis.

Results: Clinical data of 176 girls who experienced early menarche were retrospectively analyzed. For participants in the GnRHa-treated group (n=87), growth velocity (GV) showed significant differences between the first 6 months and second 6 months of treatment (P=0.01; 5.82±2.3 vs. 4.79±2.31 cm, respectively). The height standard deviation score (SDS) and BA (P<0.001) decreased during treatment. The predicted adult height was higher at the end of treatment, but was not statistically different from that at diagnosis (P=0.73). In the linear regression analysis, no significant relationships were observed between GnRHa treatment and net gain (NG) in final height [Model A, adjusted for BA and chronological age (CA) at baseline: P=0.43; Model B, adjusted for Model A plus HtSDS-BA, HtSDS, and BMISDS: P=0.65; Model C, adjusted for Model B plus LH, FSH, and IGF-1: P=0.82]. The generalized additive model (GAM) for NG in final height in GnRHa-treated participants included three independent risk factors: LH/FSH [estimated degrees of freedom (edf) =5.36, P=0.02], GV (edf =4.11, P=0.007), and the bone maturation ratio (BMR) (edf =4.79, P=0.02). GAM performed better than multivariate linear (stepwise) regression in predicting the FAH in GnRHa-treated girls with early menarche.

Conclusions: For girls who experienced menarche between the ages of 8 and 10 years, GnRHa treatment suppressed GV and skeletal maturity. The GAM provides a theoretical basis for pediatric endocrinologists in deciding whether to apply GnRHa treatment, determining the time to withdraw GnRHa treatment, and predicting the FAH of girls with early menarche.

Background: Intrauterine growth restriction (IUGR) which is judged based on birth weight and gestational age, is associated with increased neonatal mobility and mortality and also has a further impact on physical and mental health during later in life. Using the birth weight percentile for singletons to assess twins might not accurately reflect the growth status of the twins; this could potentially lead to an incorrect evaluation of growth-restricted children. For a more precise assessment of twin newborns, it is beneficial to utilize twin-specific birth weight percentile curves and ponderal index (PI) curves that consider factors such as birth order and sex. The aim of this study is to establish a contemporary up-to-date method that provides sex-specific percentiles for birth weight and the PI of twin neonates, categorized by gestational age and differentiated by chorionicity within a defined cross-sectional study.

Methods: We retrospectively analyzed the birth weight and PI percentile of 3,433 twins born at a gestational age between 25 and 40 weeks based on sex and chorionicity, between 2015 and 2020 in a single center in southern China. The smoothed percentile curves were drawn via generalized additive models for location, scale and shape (GAMLSS).

Results: A total of 3,433 live-born twins were included in this study and consisted of 366 monochorionic girls, 405 monochorionic boys, 1,237 dichorionic girls and 1,425 dichorionic boys. Compared with dichorionic twins, the mean birth weight of monochorionic twins was significantly lower and the gestational week of delivery was earlier. The calculated 50th percentile birth weight values for twin boys were higher than those for girls based on the same chorionicity, except for those male monochorionic twins who were born before week 31 of gestation.

Conclusions: The birth weight and PI percentile charts for neonates, categorized by sex and chorionicity, serve as valuable tools for assessing the wellbeing of twin infants. Utilizing these charts could reduce the overdiagnosis of small for gestational (SGA) age in normally growing twins.

Background: Helicobacter pylori (H. pylori) is a gram-negative spiral bacterium that can cause peptic ulcers. The effects of bismuth quadruple therapy and concomitant therapy on fecal ecology among children with peptic ulcers remain largely unknown. According to guidelines, these patients should be treated. Therefore, the aim of this study is to investigate the short- and long-term effects of bismuth quadruple therapy and concomitant therapy on gut microbiota in children with peptic ulcer disease (PUD).

Methods: Forty-two patients with PUD were enrolled and collected their fecal samples in Shanghai. A 16S ribosomal RNA (rRNA)-based analysis was conducted. The impacts of bismuth quadruple therapy and concomitant therapy on the gut microbiota were compared before eradication and at 2, 6 and 52 weeks (12 months) after eradication.

Results: Whatever bismuth quadruple therapy and concomitant therapy, the diversity and richness of gut microbiota markedly decreased and fecal microbiota structure markbly changed at week 2. At week 6, the composition a returned to the baseline level; nevertheless, the diversity and richness gradually returned to baseline until week 52. Compared to those in the healthy control group, the relative abundances of 90% (18/20) of the bacterial genera differed at week 2, 15% (3/20) of the bacterial genera differed at week 6, and 10% (2/20) of the bacterial genera were not restored at week 52.

Conclusions: Both bismuth-containing therapy and concomitant therapy resulted in transient changes of the gut microbiota in Chinese children, and these changes nearly returned to pre-eradication levels 1 year after eradication, suggesting the long-term safety of H. pylori therapy in children with peptic ulcers.

Background: Gout is the most common inflammatory arthritis in adults, and although gout has been trending younger in recent years, children with gout before the age of 10 years are still rare cases, especially asymptomatic children with gout, making gout in children easy to misdiagnose. This study aimed to describe the clinical characteristics, laboratory tests, imaging findings, and treatment outcomes of a 6-year-old girl with gout.

Case description: This case presents a detailed report of a 6-year-old girl diagnosed with primary gout, a condition that is exceedingly rare in pediatric patients, especially those asymptomatic. The patient exhibited a swelling on her right foot that was initially misdiagnosed multiple times before being correctly identified as gout. This patient experienced a marked improvement in their condition following the administration of the prescribed treatment. Furthermore, subsequent follow-up assessments have confirmed the absence of any recurrence. The case highlights the diagnostic challenges faced due to atypical presentations and lack of pediatric-specific diagnostic criteria for hyperuricemia and gout. In this study, we provided a comprehensive discussion on the genetic and metabolic factors contributing to gout, as well as the importance of early and accurate diagnosis to prevent long-term complications.

Conclusions: This case report provides valuable insights into the rare occurrence of gout in children, emphasizing the importance of early and accurate diagnosis and treatment for primary gout in children, emphasizing the need for heightened awareness and accurate diagnostic criteria among pediatric clinicians.

Background: Mendelian randomization (MR) has been used to identify drug targets in many conditions. Height is a classic complex trait affected by genetic and early-life environmental factors. No systematic screening has been conducted to identify drugs that interact with height. We investigated the causal relationship between genes and height, and systematically screened for interactive drugs that may promote or delay growth.

Methods: We performed MR using summary statistics from the Genetic Investigation of ANthropometric Traits consortium (N=253,288), the UK Biobank (N=461,950), and the BioBank Japan Project (N=159,095). Gene expression-single-nucleotide polymorphism associations represented by cis-expression quantitative trait loci data were obtained from the Genotype-Tissue Expression study and were used as genetic instruments. We performed annotation and enrichment analyses of the genes. Interactive drugs were identified through drug-gene interactions.

Results: Of the 27,094 genes screened, 209 had causal associations with height, including genes associated with height and short stature phenotypes (AMZ1, GNA12, NPPC, UQCC1, and ZBTB38), genes associated with height in a few studies (ANKIB1, CEP250, DCAF16, HIST1H4E, and HLA-C), and genes without previous evidence (BTN2A2 and RBMS1P1). Enrichment analysis showed that transcriptional regulation by RUNX1 was the most enriched pathway. Interactive drugs were identified, including amoxicillin, atenolol, infliximab, colchicine, propionyl-L-carnitine, BMN-111, and tamoxifen, which were known to have a positive effect on height. We also identified drugs that had a negative effect on height, including antineoplastic drugs, corticosteroids, and antiepileptic drugs. Moreover, many interactive drugs have not been previously reported to be associated with height.

Conclusions: Our results suggest that many genes have causal effects on height. By interrogating drug-gene interactions, interactive drugs have been identified as having both positive and negative effects on growth, which would help make clinical decisions.

Background: Esotropia is a common pediatric ophthalmologic disorder that, if left untreated, can have a significant impact on the binocular visual function and appearance of the child. Binasal occlusion (BNO) is a non-surgical measure to alleviate the impact of esotropia. But there is no consistent theoretical basis for BNO and its therapeutic efficacy has been controversial. This study aimed to investigate the effect of BNO in the treatment of children with esotropia.

Methods: We performed a retrospective review of children with multiple types of esotropia who still had symptoms of obvious esotropia or the presence of visual diplopia after full refraction correction at the Affiliated Hospital of Yunnan University Hospital from October 2022 to September 2023. All the children were given BNO. Vision function and strabismic degree were examined before and after 3 months of BNO. The data were analyzed by Wilcoxon signed-rank test and Fisher's exact test.

Results: The mean value of the strabismus before BNO was significantly different from the mean value of the strabismus after BNO for 3 months, including near strabismus [25.22±18.25 vs. 9.63±11.92 prism diopters (PD); P<0.001], and distance strabismus (23.65±17.45 vs. 9.27±12.47 PD; P<0.001). Twenty-six cases were markedly corrected, 6 cases were effectively corrected, 9 cases were invalid. There was no significant difference in the efficacy of BNO between the various types of esotropia (F=8.333; P=0.15). Fifteen children had diplopia before, and 14 children reported the disappearance of diplopia after 3 months, with an effective rate of 93.33%.

Conclusions: BNO is an effective non-surgical treatment measure, which can effectively reduce the strabismus degree of many types of esotropia and improve the visual double-image situation, providing a good basis for the establishment of the subsequent visual function.

Background: Corrected age entails determining the age of premature infants by adjusting their gestational age to 40 weeks. Research on corrected age in relation to neurodevelopment is limited, both domestically and internationally, resulting in a lack of consensus and recommendations regarding the appropriate termination of the neurodevelopmental corrected age. This study aimed to assess the neurodevelopmental catch-up status of premature infants with varying gestational ages and to identify appropriate termination criteria for the corrected age of neurodevelopment.

Methods: The study included 1,579 premature infants without high-risk factors and 8,441 full-term infants receiving care at the child health clinics of the Second Affiliated Hospital of Army Medical University, Chongqing Health Center for Women and Children, and Maternal and Child Health Care Hospital of Wanzhou District, Chongqing between January 1, 2018, and March 1, 2023. Infants were grouped based on gestational age into early, middle, and late premature infants, as well as full-term infants. Over a 48-month period, the developmental quotient (DQ) of each functional area on the Gesell Developmental Scale was compared across groups.

Results: There were no statistically significant differences in DQ of all functional areas between late premature infants and full-term infants at 36 months of age (all P>0.05). In contrast, some developmental functional areas in middle- and early-premature infants and full-term infants exhibited significant differences at 36 months of age; however, by 48 months of age, these differences were no longer significant (all P>0.05). The DQ of all functional areas in the late, middle, and early premature infant groups demonstrated a catch-up trend from 6 to 48 months of chronological age (all P<0.05).

Conclusions: The termination age for neurodevelopmental correction in premature infants may continue beyond 36 months of age, with longer correction time required for those born at younger gestational ages.