OBJECTIVE: To analyze the clinical manifestations and genotype of a child with You-Hoover-Fong syndrome (YHFS) to enhance clinical understanding of this disease. METHODS: Clinical data of a child who visited the Department of Pediatric Neurorehabilitation of the Women's and Children's Hospital Affiliated to Xiamen University in March 2025 for global developmental delay was collected. Peripheral blood samples of the child and his parents were collected for chromosomal microarray analysis and whole exome sequencing (WES). Sanger sequencing was performed for parental validation, and candidate variant was assessed for pathogenicity. Clinical and genetic analyses were conducted based on the child's phenotype. A literature review was performed by retrieving previously reported cases of YHFS due to TELO2 gene variants. This study was approved by the Medical Ethics Committee of the Women's and Children's Hospital Affiliated to Xiamen University (Ethics No.: KY-2023-044-K02). RESULTS: The child was a 1-year-and-2-month-old male presenting with global developmental delay, encephalodysplasia, congenital heart disease and distinctive facial features. WES revealed that the child has harbored compound heterozygous variants of the TELO2 gene, namely c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs21). Sanger sequencing confirmed that his mother carried a heterozygous c.1826G>A variant and his father carried a heterozygous c.1514_1515delAG variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as likely pathogenic (PM2_Supproting+PM3_Strong+PP1+PP3; PVS1+PM2_Supproting). Literature review has identified 9 articles reporting 31 cases of YHFS due to TELO2 gene variants, with primary clinical manifestations including developmental delay, intellectual disability, distinctive facial features, and congenital heart disease. CONCLUSION The c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs*21) compound heterozygous variants of the TELO2 gene probably underlay the pathogenesis of this child. Above finding has provided a basis for the clinical and genetic diagnosis of the child, which also enriched the mutational spectrum of the TELO2 gene, and improved understanding of YHFS.
Humans ; Male ; Infant ; Heterozygote ; Developmental Disabilities/genetics* ; Female ; Exome Sequencing ; Mutation ; Phenotype ; Abnormalities, Multiple/genetics* ; Child, Preschool

Objective:To explore the improvement effect of Tiaojing Zhuyun formula combined with Dai meridian moxibustion on endometrial fibrosis in rats with intrauterine adhesions(IUA)by regulating M2 type macrophage polarization.Methods:SD rats were selected to establish an IUA model using a dual injury method of mechanical curettage and lipopolysaccharide infection,which were randomly separated into model group,Tiaojing Zhuyun formula group,Dai meridian moxibustion group,Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group,with 10 rats in each group,another 10 rats were regarded as a sham operation(control)group,after grouping and treatment,the number of embryo implantation of rats in each group after cage closure was detected;HE staining was applied to detect pathological morphology of uterine tissue in rats in different groups,and their endometrial thickness and glandular number were compared;Masson staining was applied to detect endometrial fibrosis in rats of each group,and the collagen volume fraction(CVF)was compared;ELISA was applied to detect serum levels of profibrotic factor TGF-β1,pro-inflammatory factors IL-1β and IL-6,and levels of procollagen type Ⅰ carboxy-terminal peptide(PⅠNP)and procollagen Ⅲ N-terminal peptide(PⅢNP)of rats in each group;immunofluorescence staining was applied to detect expressions of M2 type macrophage markers CD163 and CD68 in endometrium of rats in each group.Results:Compared with control group,model group showed obvious pathological damage to uterine tissue,thickness of endometrium was thinner,the number of glands and embryo implantation were obviously reduced(P<0.05),endometrial CVF,levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6,and the number of CD163 and CD68 positive cells in endometrium were increased(P<0.05);compared with model group,pathological damage to uterine tissue of rats in Tiaojing Zhuyun formula group,Dai meridian moxibustion group,Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group was reduced,thickness of endometrium,the number of glands and embryo implantation,and the numbers of CD163 and CD68 positive cells in endometrium were increased(P<0.05),endometrial CVF and levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6 were reduced(P<0.05);compared with Tiaojing Zhuyun formula group and Dai meridian moxibustion group,pathological damage to uterine tissue of rats in Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group was alleviated,thickness of endometrium,the number of glands and embryo implantation,and the number of CD163 and CD68 positive cells in endometrium were increased(P<0.05),endometrial CVF and levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6 were reduced(P<0.05);there was no obvious change in all indicators between Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group(P>0.05).Conclusion:Combination of Tiaojing Zhuyun formula and Dai meridian moxibustion can promote the polarization of M2 type macrophages,thereby inhibiting inflammation and endometrial fibrosis in IUA rats,and improving their symptoms of uterine adhesions.

Objective:To explore the improvement effect of Tiaojing Zhuyun formula combined with Dai meridian moxibustion on endometrial fibrosis in rats with intrauterine adhesions(IUA)by regulating M2 type macrophage polarization.Methods:SD rats were selected to establish an IUA model using a dual injury method of mechanical curettage and lipopolysaccharide infection,which were randomly separated into model group,Tiaojing Zhuyun formula group,Dai meridian moxibustion group,Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group,with 10 rats in each group,another 10 rats were regarded as a sham operation(control)group,after grouping and treatment,the number of embryo implantation of rats in each group after cage closure was detected;HE staining was applied to detect pathological morphology of uterine tissue in rats in different groups,and their endometrial thickness and glandular number were compared;Masson staining was applied to detect endometrial fibrosis in rats of each group,and the collagen volume fraction(CVF)was compared;ELISA was applied to detect serum levels of profibrotic factor TGF-β1,pro-inflammatory factors IL-1β and IL-6,and levels of procollagen type Ⅰ carboxy-terminal peptide(PⅠNP)and procollagen Ⅲ N-terminal peptide(PⅢNP)of rats in each group;immunofluorescence staining was applied to detect expressions of M2 type macrophage markers CD163 and CD68 in endometrium of rats in each group.Results:Compared with control group,model group showed obvious pathological damage to uterine tissue,thickness of endometrium was thinner,the number of glands and embryo implantation were obviously reduced(P<0.05),endometrial CVF,levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6,and the number of CD163 and CD68 positive cells in endometrium were increased(P<0.05);compared with model group,pathological damage to uterine tissue of rats in Tiaojing Zhuyun formula group,Dai meridian moxibustion group,Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group was reduced,thickness of endometrium,the number of glands and embryo implantation,and the numbers of CD163 and CD68 positive cells in endometrium were increased(P<0.05),endometrial CVF and levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6 were reduced(P<0.05);compared with Tiaojing Zhuyun formula group and Dai meridian moxibustion group,pathological damage to uterine tissue of rats in Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group was alleviated,thickness of endometrium,the number of glands and embryo implantation,and the number of CD163 and CD68 positive cells in endometrium were increased(P<0.05),endometrial CVF and levels of serum PⅠNP,P Ⅲ NP,TGF-β1,IL-1β and IL-6 were reduced(P<0.05);there was no obvious change in all indicators between Tiaojing Zhuyun formula+Dai meridian moxibustion group and Bujiale group(P>0.05).Conclusion:Combination of Tiaojing Zhuyun formula and Dai meridian moxibustion can promote the polarization of M2 type macrophages,thereby inhibiting inflammation and endometrial fibrosis in IUA rats,and improving their symptoms of uterine adhesions.

Objective To explore the clinical effects of Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture in the treatment of Declining Ovarian Function(DOR)combined with follicular dysplasia infertility.Methods From January 1,2022 to January 1,2023,60 cases of infertility patients with DOR follicular dysplasia were treated in our hospital,and the above cases were randomly divided into experimental group:Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group;Control group:Clomiphene group,30 cases each.The improvement of FSH,maximum follicle size and ovulation,uterine artery blood flow index,endometrial thickness and pregnancy were observed after treatment.Results The improvement of follicle stimulating hormone,maximum follicle size,endometrial thickness and uterine artery blood flow indexes in Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group were better than clomiphene group.The difference between groups was statistically significant(P＜0.05).The ovulation rate was 66.7%and the pregnancy rate was 40%.The ovulation rate was 40%higher than the control group,and the pregnancy rate was 20%.The difference between groups was statistically significant(P＜0.05).Conclusion In the patients with DOR follicular dysplasia infertility,Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture can improve the level of follicle stimulating hormone,promote follicular maturation and ovula-tion,reduce the resistance of uterine artery blood flow,increase the thickness of endometrial,promote pregnancy,and have fewer adverse reactions.

This article takes the setting of children's rehabilitation specialty in the rehabilitation therapy of Xiamen Medical College as an example, and expounds that in the process of cultivating talents in children's rehabilitation, theoretically, a training model of "2.5+0.5+1" has been built closely around the training goals of "solid foundation, wide caliber and strong skills", highlighting basic pediatric courses, core skills courses for children's rehabilitation therapy and special courses for children's rehabilitation. In practice, the training of "early clinical practice and early probation" for children's rehabilitation skills is stressed. The results show that students have greatly improved their professional knowledge and practical ability, and the effect of "early clinical practice and early probation" is obvious. Among the students who choose the direction of children's rehabilitation, 95% of the students want to engage in the career of children's rehabilitation and believe that the curriculum system will be of great help to their future employment.

Objective:To compare the curative efficacy in the treatment of humeral surgical neck fractures between open reduction and locking plating versus closed reduction and interlocking intramedullary nailing.Methods:From July 2018 to July 2020, 60 patients with humeral surgical neck fracture were treated at Department of Orthorpaedic Trauma, Jiangmen Wuyi Hospital of Traditional Chinese Medicine. They were 24 males and 36 females, aged from 40 to 70 years and injured at the left side in 35 cases and at the right side in 25 ones. Of them, 30 underwent open reduction and locking plating (open group) and the other 30 closed reduction and interlocking intramedullary nailing (closed group). The 2 groups were compared in terms of operation time, intraoperative blood loss, surgical incision length, fracture healing time, Neer shoulder function scoring 3 months after surgery, and postoperative complications.Results:There were no statistically significant differences between the open and closed groups in preoperative general data, showing they were comparable ( P>0.05). The length of surgical incision [(5.2±1.1) cm], operation time [(34.3±12.7) min], intraoperative blood loss [(52.5±7.3) mL] and fracture healing time [(9.2±1.5) weeks] in the closed group were significantly better than those in the open group [(11.1±2.5) cm, (69.4±21.4) min, (123.5±5.2) mL and (14.2±3.4) weeks)] ( P<0.05). The excellent and good rate by Neer shoulder function scoring at 3 months after operation in the closed group (93.3%, 28/30) was significantly higher than that in the open group (66.7%, 20/30) ( P<0.05). There were no postoperative complications in either group. Conclusion:In the treatment of humeral surgical neck fractures, the curative efficacy of closed reduction and interlocking intramedullary nailing is better than that of open reduction and locking plating.

Objective:To investigate the safety, efficacy and application indication of intra-operative cell salvage (IOCS) in cesarean section.Methods:A total of 1 265 pregnant women who received IOCS blood transfusion during cesarean section in 11 tertiary A hospitals from August 2016 to January 2019 were collected and divided into <1 500 ml group (796 cases) and ≥1 500 ml group (469 cases) according to the amount of blood loss during cesarean section. The general clinical data, ultrasonic imaging data, perinatal and puerperium indicators were analyzed retrospectively. The risk factors of intraoperative blood loss ≥1 500 mL using IOCS transfusion were analyzed by logistic multivariate regression.Results:(1) A total of 848 001 ml of blood was recovered and a total of 418 649 ml of blood was transfused in 1 265 pregnant women who received IOCS transfusions, which was equivalent to 23 258 U red blood cell suspension, greatly saving medical resources. The intraoperative blood loss in <1 500 ml group and ≥1 500 ml group was 800 ml (300-1 453 ml) and 2 335 ml (1 500-20 000 ml), respectively. No amniotic fluid embolism, severe adverse reactions, shock and death occurred in the two groups. (3) Multivariate regression analysis showed that age ≥35 years ( OR=1.5, 95% CI: 1.1-1.9), prenatal hemoglobin level <110 g/L ( OR=1.7, 95% CI: 1.3-2.2), history of uterine surgery ( OR=1.8, 95% CI: 1.3-2.6), placenta previa ( OR=1.9, 95% CI: 1.1-3.1), placenta accreta ( OR=2.6, 95% CI: 1.8-3.9), blood pool in the placenta ( OR=1.6, 95% CI: 1.1-2.3), abnormal posterior placenta muscle wall ( OR=1.8, 95% CI: 1.2-2.6), placenta projecting to the anterior uterine wall ( OR=3.0, 95% CI: 1.3-7.0) were risk factors for blood loss ≥1 500 ml in obstetric transfusion using IOCS technique, with statistical significance (all P<0.05). Conclusion:IOCS is safe and effective in cesarean section, which could save the medical resources and reduces medical expenses, however, it is necessary to strictly master the application indication.

OBJECTIVETo explore the repair effects of acupuncture for promoting the governor vessel and tranquilizing the mind (acupuncture technique) on cerebral white matter injury of premature infants.

METHODSA total of 56 cases of cerebral whiter matter injury of premature infants, the fetal age less than 35 weeks were selected and randomized into an observation group (27 cases) and a control group (29 cases). The routine basic rehabilitation therapy was used in the two groups. Additionally, in the observation group, the acupuncture technique was added, once a day and the treatment for 15 days was as 1 course. Totally, 3 courses of treatment were required. Before and after treatment, the cranial magnetic resonance imaging (MRI) and the diffusion tensor imaging (DTI) were adopted to observe the location and severity of cerebral white matter injury. The Gesell developmental scale was used to assess the nerve motor development.

RESULTSAfter treatment, the difference was not significant statistically in the severity of cerebral white matter injury in the infants between the two groups (>0.05). The FA value of cerebral white matter in the interesting zone was increased as compared with that before treatment in the infants of the two groups (both<0.05). The result in the observation group was higher than that in the control groups (<0.05). After treatment, DQ value of each function zone in Gesell scale was all increased as compared with that before treatment in the two groups (all<0.05). After treatment, the DQ values of gross motor, fine motor and social adaptability in the observation group were higher than those in the control group (all<0.05). After treatment, the difference was not significant in DQ value of individual-social and speech behaviors between the two groups (both>0.05).

CONCLUSIONAcupuncture technique for promoting the governor vessel and tranquilizing the mind promotes the repair of the function in the premature infants with cerebral white matter injury and further benefits the promotion of the intelligence.

ObjectiveTo compare the effects of different feeding methods on plasma Ghrelin(a peptide hormone)level, growth and development of premature infants.Methods A total of 147 cases of very low birth weight newborn were randomly divided into nasogastric tube feeding group(group A, 38 cases), nasogastric tube feeding combined with non-nutritional sucking group(group B, 39 cases), nasogastric tube feeding combined with infantile touching group(group C,34 cases), nasogastric tube feeding combined with non-nutritional sucking and infantile touching group(group D,36 cases). Anthropometric indicators and plasma Ghrelin levels of premature infants before and after the feeding were compared among four groups.Results At 2 weeks post admission, the body weight of premature infants in four groups were(1503±206)g(group A),(1487±211)g(group B), (1494±228)g(group C), and(1615±242)g(group D). The differences between group D and other groups were statistically significant(t=2.004, 2.262, 2.061;P<0.05). At 4 weeks post admission, the plasma Ghrelin levels of premature infants in four groups were(38.3±7.4)μg/L(group A),(39.3±6.9)μg/L(group B),(35.7±6.6)μg/L(group C), and(34.5±9.1)μg/L(group D). The increases of plasma Ghrelin levels between group A and group C or D were statistically significant(t=2.65,5.20;P<0.05). Similar results were also observed between group B and group C or D(t=3.01, 5.79;P<0.05).Conclusions Nasogastric tube feeding combined with non-nutritional sucking and infantile touching is efficient in improving quality of life of very low birth weight newborns and saving medical cost.

Objective To investigate the clinical application effects of atrial electrocardiogram guided the three directional valve PICC tip localization method. Methods After application of instant location technology of arterial electronic monitoring in the experimental group, the patients received X ray examination on chest, and double check the top catheter location of PICC;the control group utilized routine location method to ensure the top catheter position, which inserted the fitted length of tube ( from the puncture position to right chest lock joint then to the third intercostal space) then sent to do X ray examination to ensure the top catheter position. The incidences of location accuracy, operation time and cost were compared between two groups. Results The accuracy of locations were 98. 7% in the experimental group and 91. 0% in the control group (χ2 =8. 01,P<0. 05);the operation time was (16. 29 ± 0. 35) min in the experimental group compared with (13. 58 ± 0. 52) min in the control group (t=7. 12,P<0. 05);the cost was (2 364. 00 ± 0. 52) and (2 375. 00 ± 0. 35) in the experimental and control group (t=0. 98,P>0. 05). Conclusions The position control of atrial electrocardiogram technology was applied to place PICC, which can judge catheter top position promptly and accurately, improve the accuracy rate of PICC catheter positioning effectively, and increase work efficiency.