This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

The prevalence of Class III malocclusion varies among different countries and regions. The populations from Southeast Asian countries (Chinese and Malaysian) showed the highest prevalence rate of 15.8%, which can seriously affect oral function, facial appearance, and mental health. As anterior crossbite tends to worsen with growth, early orthodontic treatment can harness growth potential to normalize maxillofacial development or reduce skeletal malformation severity, thereby reducing the difficulty and shortening the treatment cycle of later-stage treatment. This is beneficial for the physical and mental growth of children. Therefore, early orthodontic treatment for Class III malocclusion is particularly important. Determining the optimal timing for early orthodontic treatment requires a comprehensive assessment of clinical manifestations, dental age, and skeletal age, and can lead to better results with less effort. Currently, standardized treatment guidelines for early orthodontic treatment of Class III malocclusion are lacking. This review provides a comprehensive summary of the etiology, clinical manifestations, classification, and early orthodontic techniques for Class III malocclusion, along with systematic discussions on selecting early treatment plans. The purpose of this expert consensus is to standardize clinical practices and improve the treatment outcomes of Class III malocclusion through early orthodontic treatment.
Humans ; Malocclusion, Angle Class III/classification* ; Orthodontics, Corrective/methods* ; Consensus ; Child

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

Objective: To investigate the mediating role of children s sleep quality in the association between mother-child relationship and the executive function of preschool children, providing a reference for promoting the development of the executive function of preschool children. Methods: A stratified cluster sampling method was used to select 842 preschoolers from 12 kindergartens in Wuhu City, Anhui Province in December 2021 as the subjects of the first follow up study with follow up every six months thereafter. Finally, 746 children were included in the study after 3 follow up. Spearman correlation analysis was used to explore the associations among mother-child relationship, sleep quality and executive function in preschool children. Bootstrap program and PROCESS software were applied to test the mediating effect of sleep quality in the association between mother-child relationship and the executive function of preschool children. Results: Conflictual mother-child relationship was positively correlated with the total score of executive function, as well as scores of inhibitory, shifting, emotional control, working memory, and organizational planning ( r=0.40, 0.37, 0.36, 0.41, 0.38 , 0.34, all P <0.05). Dependent mother-child relationship was positively correlated with the total score of executive function, as well as scores of inhibitory, shifting, emotional control, working memory , and organizational planning ( r=0.23, 0.20, 0.21, 0.22 , 0.22, 0.19, all P <0.05). Sleep quality was positively correlated with the total executive function score ( r=0.27, P <0.01). After adjusting for confounding factors, sleep quality played a partial mediating role in the associations between dependent and conflictual mother-child relationships and executive function, the mediating effects were 19.40% and 11.22% respectively. Conclusions Sleep quality plays a mediating role in the association between mother-child relationship and the executive function of preschool children. Improving sleep quality in the early stage can promote the executive function of preschool children.

Objective To analyze the effects of irbesartan(IBN)regulating the stromal cell-derived factor-1(SDF-1)/CXC chemokine receptor 4(CXCR4)pathway on proliferation,migration,and radiosensitivity of lung cancer cells.Methods Human lung cancer A549 cells were randomly divided into the A549 group(without treatment),radiation group(4 Gy X-ray radiation),IBN group(1 μmol/L IBN treatment for 24 hours),IBN+radiation group(1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation),pcDNA3.1 group(transfected with pcDNA3.1+1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation),and SDF-1 group(transfected with pcDNA3.1 SDF-1+1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation).The cell viability,colony formation,apoptosis,and migration of each group were observed.The leakage rate of lactate dehydrogenase(LDH)and Ang Ⅱ levels in cells were detected.Immunofluorescence method was applied to analyze the number of γH2AX focal points of cells in each group.Western blot was applied to detect the expression of proliferation and apoptosis related proteins and SDF-1/CXCR4 pathway related proteins.Results Both radiation and IBN treatment inhibited the proliferation and migration of A549 cells,promoted cell apoptosis,upregulated the number of γH2AX focal points and LDH leakage rate,upregulated the expression of Caspase-3,Bax,and Caspase-7,and downregulated the level of Ang Ⅱand expression of SDF-1,CXCR4,Bcl-2 and PCNA(P<0.05).The combined treatment of radiation and IBN further enhanced the changes of the above indicators(P<0.05).And SDF-1 treat-ment effectively reversed the effects of radiation and IBN treatment on the changes of the above indicators(P<0.05).Conclusion IBN can limit proliferation and migration of lung cancer cells,and increase radiosensitivity by inhibiting the SDF-1/CXCR4 pathway.

Objective To analyze the effects of irbesartan(IBN)regulating the stromal cell-derived factor-1(SDF-1)/CXC chemokine receptor 4(CXCR4)pathway on proliferation,migration,and radiosensitivity of lung cancer cells.Methods Human lung cancer A549 cells were randomly divided into the A549 group(without treatment),radiation group(4 Gy X-ray radiation),IBN group(1 μmol/L IBN treatment for 24 hours),IBN+radiation group(1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation),pcDNA3.1 group(transfected with pcDNA3.1+1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation),and SDF-1 group(transfected with pcDNA3.1 SDF-1+1 μmol/L IBN treatment for 24 hours+4 Gy X-ray radiation).The cell viability,colony formation,apoptosis,and migration of each group were observed.The leakage rate of lactate dehydrogenase(LDH)and Ang Ⅱ levels in cells were detected.Immunofluorescence method was applied to analyze the number of γH2AX focal points of cells in each group.Western blot was applied to detect the expression of proliferation and apoptosis related proteins and SDF-1/CXCR4 pathway related proteins.Results Both radiation and IBN treatment inhibited the proliferation and migration of A549 cells,promoted cell apoptosis,upregulated the number of γH2AX focal points and LDH leakage rate,upregulated the expression of Caspase-3,Bax,and Caspase-7,and downregulated the level of Ang Ⅱand expression of SDF-1,CXCR4,Bcl-2 and PCNA(P<0.05).The combined treatment of radiation and IBN further enhanced the changes of the above indicators(P<0.05).And SDF-1 treat-ment effectively reversed the effects of radiation and IBN treatment on the changes of the above indicators(P<0.05).Conclusion IBN can limit proliferation and migration of lung cancer cells,and increase radiosensitivity by inhibiting the SDF-1/CXCR4 pathway.

Objective:To compare the clinical features of severe Mycoplasma pneumoniae pneumonia (SMPP) in pediatric intensive care units (PICU) before and after the COVID-19 pandemic.Methods:A retrospective study was conducted in the PICU of Shanghai Children's Hospital. Clinical and laboratory data were collected from medical records of SMPP patients admitted to the PICU before (January to December 2019) and after (March 2023 to February 2024) the COVID-19 pandemic. Patients admitted in 2019 were categorized as the pre-COVID-19 group, while those admitted in 2023-2024 were classified as the post-COVID-19 group.Results:A total of 287 children with SMPP were included, comprising 155 males and 132 females. The pre-pandemic group consisted of 180 cases, while the post-pandemic group had 107 cases. Macrolide-resistant Mycoplasma pneumoniae (MRMP) was detected in 270 cases (94.1%), with no significant difference in MRMP prevalence between the two groups [101 cases (94.4%) vs. 169 cases (93.9%), Z= 0.031, P = 0.861]. The median age of the post-pandemic group was higher than that of the pre-pandemic group [72 (42, 108) months vs. 42 (24, 68) months, Z= 6.438, P < 0.001].Comparisons of complications between the post-pandemic and pre-pandemic groups were as follows: pleural effusion [20 cases (18.7%) vs. 81 cases (45.0%), χ2=20.365, P< 0.001], shock [4 cases (3.7%) vs. 79 cases (43.9%), χ2=52.628, P< 0.001], gastrointestinal dysfunction [2 cases (1.9%) vs. 24 cases (13.3%), χ 2=9.359, P=0.002], liver dysfunction [9 cases (8.4%) vs. 46 cases (25.6%), χ2=12.733, P< 0.001], and renal injury [0 cases vs. 10 cases (5.6%), P=0.015].There was no significant difference in the incidence of respiratory failure [102 cases (95.3%) vs. 172 cases (95.6%), χ2=0.008, P=0.928]. However, the number of cases requiring high-flow oxygen therapy and mechanical ventilation was significantly lower in the post-pandemic group compared to the pre-pandemic group [14 cases (13.3%) vs. 48 cases (26.7%), 21 cases (20.3%) vs. 122 cases (67.8%), all P<0.05].The time from symptom onset to the initiation of tetracycline/quinolone therapy was shorter in the post-pandemic group compared to the pre-pandemic group [7 (3, 10) days vs. 9 (6.3, 11) days, χ2=-3.565, P< 0.001]. The proportion of patients who had already received tetracycline/quinolone therapy before admission to the PICU was significantly higher in the post-pandemic group compared to the pre-pandemic group [25 cases (23.4%) vs. 2 cases (1.1%), χ 2=10.009, P=0.002].Both the total hospital stay and PICU stay were shorter in the post-pandemic group compared to the pre-pandemic group [10.0 (8.0, 14.0) days vs. 15.5 (12.0, 22.0) days, 5 (3.0, 8.0) days vs. 7.0 (5.0, 10.0) days, all P=0.000]. All 7 deaths occurred in the pre-pandemic group, including 5 cases with co-infections and 2 cases with underlying diseases. Conclusions:In the post-COVID-19 era, SMPP cases in the PICU were predominantly observed in children over 5 years old, with a lower incidence of shock, gastrointestinal disorders, liver injury, and kidney injury compared to the pre-pandemic period. Patients with macrolide-resistant Mycoplasma pneumoniae who received timely treatment with tetracycline/quinolones exhibited favorable outcomes.

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

Recently, small nucleolar RNAs (snoRNAs) have transcended the genomic "noise" to emerge as pivotal molecular markers due to their essential roles in tumor progression. Substantial evidence indicates a strong association between snoRNAs and critical clinical features such as tumor pathology and drug resistance. Historically, snoRNA research has concentrated on two classical mechanisms: 2'-O-ribose methylation and pseudouridylation. This review specifically summarizes the novel regulatory mechanisms and functional patterns of snoRNAs in tumors, encompassing transcriptional, post-transcriptional, and post-translational regulation. We further discuss the synergistic effect between snoRNA host genes (SNHGs) and snoRNAs in tumor progression. More importantly, snoRNAs extensively contribute to the development of tumor cell resistance as oncogenes or tumor suppressor genes. Accordingly, we provide a comprehensive review of the clinical diagnosis and treatment associated with snoRNAs and explore their significant potential as novel drug targets.