Objective:To summarize the clinical phenotypes and genetic characteristics of Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) caused by PPP1CB variants. Methods:A case summary.Clinical data, laboratory findings, and imaging studies were collected from a patient with NSLH2 treated at Guangdong Women and Children Hospital in January 2024.Genomic DNA was extracted from the proband and his parents for whole-exome sequencing, with pathogenic variants verified by Sanger sequencing.Literature review was conducted to analyze clinical phenotypes, genetic features, and management approaches in NSLH2.Results:The patient manifested short stature, developmental delay, distinctive facial features, sparse eyebrows, slow hair growth, coarse hair texture, and hypotrichosis.Whole-exome sequencing identified a de novo heterozygous PPP1CB variant (c.146C>G, p.Pro49Arg).Literature review identified 26 reported cases (including this one), with cardinal features including developmental delay, impaired hair growth, abnormal hair texture, characteristic facies, congenital heart disease, short stature, and central nervous system abnormalities. Conclusions:NSLH2 is an autosomal dominant disorder caused by PPP1CB variants with characteristic manifestations.Genetic testing should be considered for children presenting with distinctive facies, developmental delay, impaired hair growth, and abnormal hair texture to establish a definitive diagnosis.

Retinopathy of prematurity (ROP) is an abnormal proliferative disease of retinal blood vessels that occurs in preterm and low-birth-weight infants.It is a common cause of blindness and visual impairment in children.Current treatments for ROP are associated with various limitations and side effects.Therefore, there is an urgent need to develop more effective prevention and treatment strategies to significantly improve the clinical outcomes of affected children.Mesenchymal stem cell-derived exosomes (MSC-Exo) contain various bioactive factors, including cytokines, proteins, and microRNA (miRNA), which are involved in intercellular communication, immune responses, and other pathophysiological processes.Importantly, miRNA can regulate vascular endothelial cell proliferation and angiogenesis under hypoxic-ischemic conditions.Based on these properties, this article aims to provide a review of the latest research advances on MSC-Exo for the prevention and treatment of ROP, thereby providing a reference basis for the future application of MSC-Exo in managing ROP.

Objective:To summarize the clinical phenotypes and genetic characteristics of Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) caused by PPP1CB variants. Methods:A case summary.Clinical data, laboratory findings, and imaging studies were collected from a patient with NSLH2 treated at Guangdong Women and Children Hospital in January 2024.Genomic DNA was extracted from the proband and his parents for whole-exome sequencing, with pathogenic variants verified by Sanger sequencing.Literature review was conducted to analyze clinical phenotypes, genetic features, and management approaches in NSLH2.Results:The patient manifested short stature, developmental delay, distinctive facial features, sparse eyebrows, slow hair growth, coarse hair texture, and hypotrichosis.Whole-exome sequencing identified a de novo heterozygous PPP1CB variant (c.146C>G, p.Pro49Arg).Literature review identified 26 reported cases (including this one), with cardinal features including developmental delay, impaired hair growth, abnormal hair texture, characteristic facies, congenital heart disease, short stature, and central nervous system abnormalities. Conclusions:NSLH2 is an autosomal dominant disorder caused by PPP1CB variants with characteristic manifestations.Genetic testing should be considered for children presenting with distinctive facies, developmental delay, impaired hair growth, and abnormal hair texture to establish a definitive diagnosis.

Retinopathy of prematurity (ROP) is an abnormal proliferative disease of retinal blood vessels that occurs in preterm and low-birth-weight infants.It is a common cause of blindness and visual impairment in children.Current treatments for ROP are associated with various limitations and side effects.Therefore, there is an urgent need to develop more effective prevention and treatment strategies to significantly improve the clinical outcomes of affected children.Mesenchymal stem cell-derived exosomes (MSC-Exo) contain various bioactive factors, including cytokines, proteins, and microRNA (miRNA), which are involved in intercellular communication, immune responses, and other pathophysiological processes.Importantly, miRNA can regulate vascular endothelial cell proliferation and angiogenesis under hypoxic-ischemic conditions.Based on these properties, this article aims to provide a review of the latest research advances on MSC-Exo for the prevention and treatment of ROP, thereby providing a reference basis for the future application of MSC-Exo in managing ROP.

AIM: To compare the efficacy of intravitreal injection of ranibizumab(IVR)and intravitreal injection of conbercept(IVC)in children with retinopathy of prematurity(ROP).METHODS: Retrospective study. A total of 1 100 eyes with ROP treated with intravitreal anti-VEGF at our hospital from January 2015 to June 2023 were included. According to the different therapeutic drugs, the children were divided into two groups: IVR group and IVC group. According to the degree of ROP, the patients were divided into three groups: aggressive ROP(A-ROP), Zone Ⅰ type 1 ROP and Zone Ⅱ type 1 ROP. The reactivation and retreatment between the two groups were compared after propensity score matching(PSM)analysis, and they were followed-up for at least 3 mo after surgery.RESULTS: In Zone Ⅱ type 1 ROP, there was a statistically significant difference in the rates of reactivation and retreatment between the IVR and IVC groups(P<0.05); however, in A-ROP and Zone I type 1 ROP, there were no statistically significant differences in the rates of reactivation and retreatment between the two groups(P>0.05). The risk of reactivation and retreatment of Zone I type 1 ROP was higher than the Zone II type 1 ROP. Furthermore, the use of drugs and corrected gestational age of first treatment were influencing factors of lesion recurrence and retreatment.CONCLUSION: There is a significant difference in the initial cure effect between the two drugs in Zone II type 1 ROP, with the reactivation and retreatment rates of the IVC group being much lower than those of the IVR group.

Objective:We applied a hypoxia-induced model of human fetal retinal microvascular endothelial cell (RMEC) to study the effect of carbonic anhydrase 9 (CA9) on cell proliferation.Methods:The eyeballs of spontaneously aborted fetuses in Guangdong Women and Children's Hospital were obtained, and the retinas were isolated. RMEC was obtained by trypsin and collagenase two-step enzyme digestion, and endothelial cells were identified by CD34. The fetal RMEC and the purchased adult RMEC were cultured in normoxic and hypoxic incubators (1%O 2+5%CO 2+94%N 2), and the expression of CA9 was detected by qPCR and Western blot. After knocking down the CA9 by small interference RNA technique, the cell proliferation was detected by CCK-8 method, and the cell viability was detected by CCK-8 after adding CA9 inhibitor U-104. Results:The primary RMEC was extracted successfully. Immunofluorescence staining showed the percentage of CD34 positive cells in the third-generation cells was nearly 100%. The expression of CA9 mRNA in immature fetus and adult RMEC under hypoxia culture was higher than that under normoxic culture (fetal 1% O 2 group vs. fetal 21% O 2 group: 67.80±10.31 vs. 1.00±0.04, P<0.001; adult 1% O 2 group vs. adult 21% O 2 group: 1.72±0.22 vs. 1.00±0.02, P=0.014). Western blot analysis showed significantly increased expression of CA9 in the fetal RMEC exposed to hypoxia, which aligned with the expression of CA9 mRNA. When fetal RMEC was transfected with siCA9 20 nM, the knockdown rate of CA9 was 95% ( P<0.001). CCK-8 assay showed significantly lower proliferation of fetal RMEC cells in siCA9 group compared to siNC group (0.57±0.05 vs. 0.90±0.03, P<0.001), which was reflected by the OD value. With the addition of 100 μM CA9 inhibitor U-104, the viability of fetal RMEC in the treated groupwas significantly lower than that in the untreated group (99.16%±3.82% vs. 119.10% ±1.72%, P=0.002). Conclusions:The expression of CA9 differed between adult and preterm fetus in our hypoxia-induced RMEC model. Inhibiting CA9 can inhibit the proliferation of retinal microvascular endothelial cells of preterm fetus.

Hypoxia-inducible factor-1 (HIF-1) is an essential transcription factor, which mediates the transcription of multiple target genes to adapt the body for hypoxia.Oxygen-induced retinal neovascularization (RNV) is an important pathological process of retinopathy of prematurity (ROP). By mediating the transcription of vascular endothelial growth factors, angiopoietin and platelet-derived growth factors, HIF-1 can promote RNV and then lead to ROP.Therefore, HIF-1 plays a vital role in the pathological process of ROP.In this paper, the recent research progress on the role of HIF-1 in oxygen-induced RNV was summarized in order to further the understanding of ROP pathogenesis and treatment.

Objective:To study the insulin-like growth factors-1 (IGF-1) and lipid level of term small for gestational age (SGA) infants within 24 hours postnatally and to explore the correlation between IGF-1 and blood lipids.Methods:A prospective study was conducted on singleton term SGA and appropriate for gestational age infant (AGA) who were delivered and admitted to the neonatal ward of Guangdong Women and Children Hospital within 24 hours after birth from May 2020 to January 2021, and the infants were divided into SGA and AGA groups to compare the differences in IGF-1 and lipid levels within 24 hours after birth and to analyze the correlation between IGF-1 and lipids.Results:A total of 95 cases in the SGA group and 84 cases in the AGA group were included in the study. The proportion of infants with IGF-1 <25 ng/ml was significantly higher in SGA group (87.4%) than in the AGA group (52.4%). It was also found that the proportion of infants with IGF-1 <25 ng/ml in SGA was significantly higher than that in AGA within different gender composition groups, early-term and full-term births groups. The triglyceride (TG) level was higher in the SGA group than that in the AGA group, but the high-density lipoprotein cholesterol (HDL-C) level was lower than that in the AGA group ( P<0.05). IGF-1 level within 24 hours postnatally in SGA and AGA was positively correlated with HDL-C levels ( P<0.01) and negatively correlated with TG ( P<0.01), and HDL-C level was a predictor of IGF-1. Conclusions:Compared with term AGA, SGA term infants showed insufficient IGF-1 and HDL-C secretion and high TG within 24 hours after birth. Nutritional support for SGA should be given promptly after birth to avoid hypoglycemia and to stimulate IGF-1 secretion.

Objective:To explore the incidence, diagnosis and treatment of retinopathy of prematurity(ROP) in preterm infants born in the Guangdong Women and Children′s Hospital and transported from other hospital.Method:s Clinical data of 755 premature infants with ROP at Neonatal Intensive Care Unit, Guangdong Women and Children′s Hospital from January 2013 to December 2015 were retrospectively analyzed.There were 239 cases born in the hospital and 516 cases transported from other hospitals.Their gestational age, birth weight, gender, severity of ROP lesion and clinical data were collected and compared.Result:s The birth weight in the group of transported from other hospital was lower than that in the group of born in the hospital[(1 290.64±392.87) g vs.(1 586.21±512.74) g], and the difference was statistically significant( P<0.001). The ROP diagnosis of gestational age in the group of transported from other hospital was higher than that in the group of born in the hospital[(35.53±2.81)weeks vs.(34.51±2.17)weeks], and the difference was statistically significant( P<0.001). On the proportion of severe condition [such as lesion area Ⅰ, aggressive posterior retinopathy of prematurity(AP-ROP) and plus combined lesions], in the group of transported from other hospital was higher than that in the group of born in the hospital, and the differences was statistically significant( P<0.001). In the comparison of the proportion of laser photocoagulation, vitreous injection, combination of the two operations and supplementary laser therapy, in the group of transported from other hospital were higher than those in the group of born in the hospital[60.1%(310/516 cases) vs.20.9%(50/239 cases); 10.9%(56/516 cases) vs.2.5%(6/239 cases); 8.1%(42/516 cases) vs.1.7%(4/239 cases); 4.5%(23/516 cases) vs.1.3%(3/239 cases)], and the differences were statistically significant(all P<0.001). Conclusions:Premature infants with ROP transported from other hospitals have lower birth weight, severe ROP lesions and high surgical intervention rate.Improving ROP screening level in primary hospitals, timely diagnosis and efficient transportation can help to effectively prevent the deterioration of ROP in premature infants and improve their quality of life.

With the development of modern perinatal medicine, the incidence rate and survival rate of small for gestational age(SGA) infants significantly increased.But the surviving SGA infants tend to be associated with a lot of health problems and sequelae.SGA infants not only have a risk of perinatal adverse outcome, but also have a high risk of growth retardation, cognitive dysfunction, adult metabolic syndrome and psychosocial dysfunction.Now, the present status and research progress of growth and development of SGA infants are expounded, in order to provide evidence for early identification, diagnosis, effective intervention and follow-up strategy, and further to improve the prognosis of SGA infants and the quality of life, easing the burden of society.