Objective To evaluate the effects of inhaled conditioning with a mixture of lavender oil and citrus oil on sleep and depressive symptoms in puerperium women. Methods A randomized controlled trial design was used in this study. Convenience sampling method was used to select 144 pregnant women who gave birth in different hospitals in Shenzhen and were willing to spend the puerperium in the maternity center. According to the random number table method, the subjects were divided into the control group (n=68) and the intervention group (n=76). The intervention was mixed inhalation of lavender oil and citrus oil. Pittsburgh Sleep Quality Index (PSQI), Edinburgh Postnatal Depression Scale (EPDS) and numerical rating Scale (NRS) were used to evaluate the subjects before and after the intervention. Results After the intervention, the PSQI total score, EPDS total score and pain score of the intervention group were significantly lower than those before the intervention (P<0.05). In particular, the intervention group showed the most significant improvements in sleep quality, time to fall asleep, sleep disturbance, and hypnotic medication use (P<0.05), while the control group showed improvements only in time to fall asleep and sleep disturbance. In addition, pain scores decreased in both groups, but the decrease was greater in the intervention group. Conclusions Inhalation of lavender oil and citrus oil can effectively improve the sleep quality, depression and pain of puerperium women, and provide a safe and effective non-drug therapy for puerperium women.

Objective:To explore the clinical value of the three-dimensional fat suppression fast spoiled gradient echo (3D-FS-FSPGR) MRI sequence in the preoperative evaluation of congenital radial polydactyly.Methods:The data of children with congenital radial polydactyly who underwent surgical treatment in the Department of Orthopedics at Shanxi Children’s Hospital from May 2021 to April 2022 were retrospectively analyzed. Preoperative X-ray examinations and MRI 3D-FS-FSPGR sequence scans were performed on the children. Radiologists first described the morphological characteristics of the articular cartilage, and then orthopedic surgeons performed the Wassel classification based on the X-ray and MRI imaging result, focusing on the bifurcation level, morphology, and articular surface of the phalangeal and metacarpal cartilage. The corresponding surgical method was selected according to the Wassel classification, and intraoperative incision exploration was used as the gold standard. Six months after surgery, the surgical outcome was evaluated using the modified Tada scoring system [with a total score of 0-7, and classified as excellent: >5 points, good: 3-5 points, and poor: <3 points; the excellent and good rate = (excellent + good) cases/total number of cases × 100%]. The appearance, function and recurrence of the operated finger were evaluated 1 year after surgery. Descriptive statistics were performed using SPSS 26.0 software, and the Kappa coefficient was used to evaluate the consistency of the Wassel classification result between radiographs, MRI 3D-FS-FSPGR sequences and intraoperative exploration respectively.Results:A total of 45 children (55 fingers) with congenital radial polydactyly were enrolled, including 25 males and 20 females, aged 5 to 60 months, with the median age of 9 months. Unilateral findings were seen in 35 cases and bilateral findings in 10 cases. MRI 3D-FS-FSPGR imaging sequences clearly demonstrated the level of cartilage bifurcation and bone tissue growth and development, which were consistent with intraoperative exploration findings. The accuracy of the MRI 3D-FS-FSPGR Wassel classification was 100% (55/55), and the accuracy of the X-ray Wassel classification was 81.8% (45/55). Disagreements were found in the classifications of five fingers: three with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅲ, and two with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅴ. The Kappa coefficients were all >0.85. All patients were followed up for 1 year. The modified Tada score showed excellent in 41 fingers, good in 6 fingers, and poor in 8 fingers, for an excellent and good rate of 85.5% (47/55). At final follow-up, the reconstructed thumbs showed significant improvement in appearance, with normal bone axis restoration, no deviation of the digits, and normal nail appearance. There was no significant scarring or contracture. Functions of thumb flexion, extension, grasping, and opposition were good. There was no postoperative deformity or recurrence.Conclusion:MRI 3D-FS-FSPGR sequences can accurately classify congenital radial polydactyly preoperatively, optimize the surgical incision and osteotomy alignment, and achieve excellent surgical outcomes.

Objective:To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype.Methods:A child with motor developmental delay as the initial symptom admitted to Xi ′an Children′s Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (Ethics No. 20240045).Results:① The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. ② WES identified a homozygous variant in the MIDI gene, c. 1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.③ Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. Conclusion:The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c. 1483C>T(p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.

Microvascular aging is a complex physiological process associated with advancing age.The aging and dysfunction of microvascular endothelial cells serve as critical markers of this phenomenon, characterized by increased expression of inflammatory factors, heightened oxidative stress, and structural damage to the microvasculature.This process is closely linked to age-related diseases such as diabetes in the elderly and cardiovascular disorders, significantly impacting the quality of life and overall health of older adults.Biomarkers, including the reactive hyperemia index, circulating endothelial progenitor cells, and extracellular microvesicles, play a vital role in assessing microvascular health and predicting cardiovascular events.Interventions targeting microvascular aging, which encompass lifestyle modifications, pharmacotherapy, and strategies aimed at preserving microvascular structure and endothelial cell function, hold promise for delaying or reversing the process of microvascular aging.

Objective:To evaluate the effectiveness and safety of zoledronic acid in patients with Paget′s disease of bone based on clinical data from a single medical center.Methods:This retrospective study included 24 patients diagnosed with Paget′s disease of bone and treated with zoledronic acid at Peking Union Medical College Hospital between January 2009 and June 2020. Demographic data, clinical symptoms, treatment efficacy, and safety outcomes were collected. The primary efficacy measure was serum alkaline phosphatase(ALP) levels. Treatment was considered effective if ALP levels returned to normal or decreased by more than 75% from baseline in the difference between the ALP level and its normal median value.Results:Among the 24 patients with Paget′s bone disease, the most commonly affected site was the skull(in 17 cases). All patients received a single 5 mg intravenous infusion of zoledronic acid. Serum ALP levels significantly decreased after treatment. Among the 15 patients who completed at least 3 months of follow-up, all achieved treatment success. The median time for serum ALP levels to reach the target was 13.1(9.4, 26.1) weeks. In 12 patients, ALP levels normalized within a medium of 16.9(11.5, 37.3) weeks, and remained stable over a medium follow-up of 4.56(2.42, 5.71) years. The most common side effects were hypocalcemia(21 cases, 87.5%) and flu-like symptoms(17 cases, 70.8%). Seven patients had severe hypocalcemia(serum calcium<1.75 mmol/L), and they had higher baseline levels of ALP, calcium, and phosphorus compared to those with mild hypocalcemia.Conclusions:Zoledronic acid 5 mg intravenous infusion effectively controlled disease activity in patients with Paget′s disease of bone. Generally, Most patients achieved treatment goals within 3-4 months, with sustained remission for a median of 4 years. Hypocalcemia was the most frequent side effect, underscoring the importance of timely calcium and vitamin D supplementation.

Objective:To investigate the ameliorative effects of N-acetyl-D-mannosamine(ManNAc) on glucose and lipid metabolic disorders in obese mice.Methods:In vivo experiments were conducted using 21 four-week-old C57BL/6JGpt mice, randomly divided into three groups( n=7 per group): a normal control group, a high-fat diet(HFD) control grooup, and a ManNAc treatment group(400 mg·kg -1·d -1). The intervention lasted for 20 weeks. Body weight, food intake, and fasting blood glucose levels were monitored weekly. Glucose tolerance tests(GTT), insulin sensitivity tests(ITT), and respiratory metabolism monitoring were performed in the 17th, 18th, and 19th weeks, respectively. At the end of the experiment, whole-body fat distribution was assessed, and serum lipid profiles were measured. Liver and adipose tissue weights were recorded, and histological analyses including HE staining of liver, adipose and pancreatic tissues were performed. Liver transcriptome sequencing and quantitative real-time PCR(qPCR) were conducted to evaluate hepatic gene expression. In vitro, a hepatic steatosis model was established by inducing HepG2 cell with 0.4 mmol/L oleic acid, followed by treatment with 500 μg/mL ManNAc. Lipid accumulation was assessed using BODIPY staining, and the expression of lipid metabolism-related genes was quantified by qPCR. Results:ManNAc administration attenuated HFD-induced weight gain, reduced total body fat volume, and decreased liver and adipose tissue weights as well as intracellular lipid accumulation. Pancreatic islet numbers increased, while fasting blood glucose levels, glucose tolerance, and insulin sensitivity significantly improved. Serum levels of triglycerides, total cholesterol, and low-density lipoprotein levels were decreased, accompanied by enhanced energy expenditure. Additionally, hepatic expression of Cd36, Fabp3, and Scd1 was downregulated. In vitro, ManNAc significantly reduced lipid accumulation in HepG2 cells and downregulated the expression of Cd36, Fabp3, and Scd1 genes.Conclusion:ManNAc may improve glucose and lipid metabolism by modulating the PPARs-mediated fatty acid metabolic pathway, reducing lipogenesis, promoting fatty acid oxidation and energy expenditure, and enhancing insulin sensitivity, ultimately ameliorating disorders in obese mice.

Primary hyperparathyroidism(PHPT) is relatively rare in individuals before adulthood. Among juvenile patients, hereditary PHPT accounts for a significant proportion. Specifically, infant and toddler patients often carry gene mutations related to the calcium-sensing receptor signaling pathway, whereas children and adolescent patients predominantly exhibit mutations in genes associated with cell proliferation. Notably, PHPT in infants, children, and adolescents differs significantly from that in adult patients in terms of genetic background, clinical manifestations, treatment strategies, and prognosis. This article aims to systematically summarize the genetic characteristics and clinical features of juvenile-onset PHPT to enhance the physicians' understanding of this disease.

OBJECTIVE: To explore the genotype-phenotype relationship in a child with Opitz G/BBB syndrome (OS) with mild clinical phenotype. METHODS: A child with motor developmental delay as the initial symptom admitted to Xi'an Children's Hospital on June 10, 2021 was selected for this study. Clinical data were collected, and peripheral blood samples were obtained from the child and his mother. Whole exome sequencing (WES) was performed to identify genetic variant in the child. Candidate variant were verified by Sanger sequencing to assess inheritance patterns and pathogenicity. Real-time fluorescence quantitative PCR (RT-qPCR) and Western blot (WB) analyses were conducted to evaluate the effects of the variant on mRNA and protein expression, respectively, using recombinant expression plasmids generated in vitro. This study was approved by the Medical Ethics Committee of Xi'an Children's Hospital (Ethics No. 20240045). RESULTS: The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. Echocardiography revealed an atrial septal defect. WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.Recombinant expression plasmids were successfully constructed. RT-qPCR analysis showed that the variant significantly reduced MIDI gene mRNA expression, while WB results indicated that the variant led to the production of a truncated protein. CONCLUSION The mild clinical phenotype of OS in this child may be attributed to the mRNA degradation escape mechanism induced by the nonsense variant c.1483C>T (p.R495X) in the MIDI gene. These findings provide valuable diagnostic insights for this pedigree and contribute to the understanding of the genotype-phenotype correlation in OS.
Humans ; Male ; Infant ; Transcription Factors/metabolism* ; Microtubule Proteins/genetics* ; Craniosynostoses/genetics* ; Hypospadias/genetics* ; Codon, Nonsense/genetics* ; RNA, Messenger/metabolism* ; Female ; RNA Stability/genetics* ; Phenotype ; Nuclear Proteins/genetics* ; Ubiquitin-Protein Ligases ; Esophagus/abnormalities* ; Hypertelorism

Objective:To construct a risk prediction model for non-suicidal self-injury (NSSI) in adolescents with mood disorders, providing a basis for identifying and intervening in high-risk patients.Methods:A convenience sampling method was used to retrospectively analyze 724 adolescent patients with mood disorders admitted to the open ward of Qingdao Mental Health Center from January 2019 to July 2023. Patients admitted from January 2019 to December 2022 (641 cases) were randomly divided into a modeling group and an internal validation group in a 7∶3 ratio, while patients admitted from January to July 2023 (83 cases) were used as an external validation group. A binary multivariate logistic regression analysis was used to construct a nomogram prediction model for NSSI risk in adolescents with mood disorders. The predictive performance of the model was evaluated using the area under the curve (AUC), sensitivity, and specificity.Results:There were 179 males and 545 females, aged 15 (14, 17) years old. Among the 724 patients, 449 were in the modeling group, 192 in the internal validation group, and 83 in the external validation group. The incidence of NSSI in the modeling group was 32.96% (148/449). Reduced food intake ( OR=10.980, 95% CI 4.462-27.017), passive contact ( OR=4.681, 95% CI 1.986-11.031), Hamilton Depression Rating Scale-17 score >17 ( OR=12.235, 95% CI 4.657-32.141), Hamilton Anxiety Rating Scale score>15 ( OR=27.888, 95% CI 8.700-124.630), Insomnia Severity Index score >15 ( OR=6.357, 95% CI 2.257-17.899), and higher levels of past self-injury ( OR=1.663, 95% CI 1.428-1.935) were independent risk factors for NSSI in adolescents with mood disorders (all P<0.05). The AUC of the nomogram model based on these six factors was 0.973, with a sensitivity of 0.94 and a specificity of 0.89. Conclusions:The risk prediction model for NSSI in adolescents with mood disorders has good discrimination, accuracy, and practicality, and can help identify high-risk NSSI populations among adolescents with mood disorders.

Objective:To explore the clinical value of the three-dimensional fat suppression fast spoiled gradient echo (3D-FS-FSPGR) MRI sequence in the preoperative evaluation of congenital radial polydactyly.Methods:The data of children with congenital radial polydactyly who underwent surgical treatment in the Department of Orthopedics at Shanxi Children’s Hospital from May 2021 to April 2022 were retrospectively analyzed. Preoperative X-ray examinations and MRI 3D-FS-FSPGR sequence scans were performed on the children. Radiologists first described the morphological characteristics of the articular cartilage, and then orthopedic surgeons performed the Wassel classification based on the X-ray and MRI imaging result, focusing on the bifurcation level, morphology, and articular surface of the phalangeal and metacarpal cartilage. The corresponding surgical method was selected according to the Wassel classification, and intraoperative incision exploration was used as the gold standard. Six months after surgery, the surgical outcome was evaluated using the modified Tada scoring system [with a total score of 0-7, and classified as excellent: >5 points, good: 3-5 points, and poor: <3 points; the excellent and good rate = (excellent + good) cases/total number of cases × 100%]. The appearance, function and recurrence of the operated finger were evaluated 1 year after surgery. Descriptive statistics were performed using SPSS 26.0 software, and the Kappa coefficient was used to evaluate the consistency of the Wassel classification result between radiographs, MRI 3D-FS-FSPGR sequences and intraoperative exploration respectively.Results:A total of 45 children (55 fingers) with congenital radial polydactyly were enrolled, including 25 males and 20 females, aged 5 to 60 months, with the median age of 9 months. Unilateral findings were seen in 35 cases and bilateral findings in 10 cases. MRI 3D-FS-FSPGR imaging sequences clearly demonstrated the level of cartilage bifurcation and bone tissue growth and development, which were consistent with intraoperative exploration findings. The accuracy of the MRI 3D-FS-FSPGR Wassel classification was 100% (55/55), and the accuracy of the X-ray Wassel classification was 81.8% (45/55). Disagreements were found in the classifications of five fingers: three with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅲ, and two with X-ray classifications of Wassel type Ⅳ but actually classified as type Ⅴ. The Kappa coefficients were all >0.85. All patients were followed up for 1 year. The modified Tada score showed excellent in 41 fingers, good in 6 fingers, and poor in 8 fingers, for an excellent and good rate of 85.5% (47/55). At final follow-up, the reconstructed thumbs showed significant improvement in appearance, with normal bone axis restoration, no deviation of the digits, and normal nail appearance. There was no significant scarring or contracture. Functions of thumb flexion, extension, grasping, and opposition were good. There was no postoperative deformity or recurrence.Conclusion:MRI 3D-FS-FSPGR sequences can accurately classify congenital radial polydactyly preoperatively, optimize the surgical incision and osteotomy alignment, and achieve excellent surgical outcomes.