OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

Objective: To investigate the clinical effects of sinus elevation surgery and implant restorationdue to insufficient bone massafter tooth extraction in patients with odontogenic maxillary sinusitis (OMS) and to provide a reference for use in clinical practice. Methods: This study was reviewed and approved by the Ethics Committee, and informed consent was obtained from the patients. Forty-five teeth were extracted from patients with OMS in the maxillary posterior area (the study group). Sinus elevation and implantation were performed due to insufficient bone height in the implant area 6-8 months after tooth extraction in the study group. Forty-eight teeth were extracted from patients without "OMS" in the maxillary posterior area (the control group), and sinus elevation and implantation were performed due to insufficient bone height in the implant area 6-8 months after tooth extraction inthe control group. In the study group, 13 cases of discontinuous maxillary sinus floor bone and residual alveolar bone height of the maxillary sinus floor less than 4 mm were addressed with lateral wall sinus elevation, and the other 32 cases were addressed with crest-approach sinus elevation. In the control group, 8 cases of residual alveolar bone height less than 4 mm in the maxillary sinus floor were addressed with lateral wall sinus,and the other 40 cases were addressed with crest approach sinus elevation. Restorations were placed 6 to 8 months after surgery. The patients were followed up 21 days, 3 months, and 8 months after implantation and every 6 months after the placement of the restorations. The sinus bone gain (SBG), apical bone height (ABL) and marginal bone loss (MBL) were statistically analyzed 24 months after the restoration. Results: The average preoperative mucosal thickness in the 45 patients in the study group was (1.556 ± 0.693) mm, which was significantly larger than that in the control group (1.229 ± 0.425) mm (P<0.001). There were no perforations in either group. Twenty-four months after restoration, there was no significant difference in the SBG, ABH or MBL between the two groups (P>0.05). Conclusion After the extraction of teeth from patients with OMS, the inflammation of the maxillary sinus decreased, and the bone height and density in the edentulous area were restored to a certain degree. The effects of sinus floor lifting surgery and implant restoration do not differ between patients with and without OMS.

[Objective] To investigate the clinical features and treatment of renal cell carcinoma unclassified with medullary phenotype (RCCU-MP), so as to improve the clinical understanding of this disease. [Methods] The clinical data of 2 patients with pathological diagnosis of renal medullary carcinoma (RMC) in Zhujiang Hospital during 2019 and 2023 were retrospectively analyzed, and relevant literature was reviewed. [Results] Both patients had symptoms of backache, and imaging examination indicated renal space-occupying lesions.Case 1 was diagnosed as RMC by renal biopsy, and case 2 was pathologically diagnosed as RMC after surgery.Both cases lacked evidence of sickle cell trait or sickle cell disease, and were finally diagnosed as RCCU-MP.Case 1 did not receive antineoplastic therapy and died 5 months after diagnosis.Case 2 underwent laparoscopic nephrectomy, and then received gemcitabine + paclitaxel chemotherapy + immunotherapy.The patient's tumor progressed gradually after first-line treatment was abandoned due to concurrent hematologic infection, and he eventually died 7 months after surgery. [Conclusion] The clinical features of RCCU-MP are partially similar to those of RMC.The diagnosis of RCCU-MP requires pathological examinations and should exclude sickle cell trait or sickle cell disease.Due to the aggressive nature of the tumor, the prognosis of patients is poor.

Objective:To understand the incidence and genetic characteristics of thalassemia in newborns in Baisha Li Autonomous County, Hainan Province, and to provide data support for government decision-making departments to formulate appropriate policies for prevention and control of thalassemia.Methods:With the help of Newborn Disease Screening Network of Hainan Province, samples of dry blood spots on the heels of newborns born in Baisha Li Autonomous County from January to June 2020 were collected based on the principle of informed consent. Fluorescent PCR melting curve method was used to detect the common types of thalassemia genes in Chinese population, and some samples were verified by the PCR + flow-through hybridization method. Samples of suspected new or rare mutations were sent to gene companies for sequencing analysis.Results:A total of 391 samples of neonatal dry blood spots were collected, and 252 samples with thalassemia genes were detected, the detection rate was 64.45% (252/391). Among them, 213 samples with α-thalassemia genes were detected, and the detection rate was 54.48% (213/391); 13 samples with β-thalassemia genes were detected, and the detection rate was 3.32% (13/391); 26 samples with α- and β-thalassemia genes were detected, and the detection rate was 6.65% (26/391). Among the above mentioned thalassemia genotypes, 1 case of rare type α-thalassemia -α 4.2/HKαα and 1 case of rare type β-thalassemia β CD39/β N were detected. According to ethnicity, 176 samples with thalassemia genes were detected in 238 Li samples, with a detection rate of 73.95% (176/238); 67 samples with thalassemia genes were detected in 137 Han samples, with a detection rate of 48.91% (67/137); 9 samples with thalassemia genes were detected in 16 other ethnic samples, with a detection rate of 56.25% (9/16). Conclusions:The detection rate of neonatal thalassemia genes is relatively high in Baisha Li Autonomous County, Hainan Province, and α-thalassemia is the most common. It is recommended that relevant government departments of Hainan Province should carry out genetic testing of neonatal thalassemia in Baisha Li Autonomous County as soon as possible to ensure the quality of life of the newborns.

Objective:To explore the correlation between TCM Syndromes of small pulmonary nodules (SPN) and the features of CT imaging and tumor markers in the chest.Methods:With retrospective study, the clinical data of 420 patients with small pulmonary nodules who were included from June 2016 to May 2018 from the East China Hospital Affiliated to Fudan University and Shanghai TCM Integrated Hospital were analized. The correlation between TCM syndromes and clinical high-risk indicators was analyzed by frequency analysis and Pearson correlation analysis.Results:The TCM syndromes were mainly lung qi and spleen qi deficiency syndrome (28.8%), followed by qi and yin deficiency syndrome (27.6%), lung yin deficiency syndrome (22.9%), qi deficiency and blood stasis syndrome (12.4%) and liver depression and spleen deficiency syndrome (8.3%). Compared with the patients with qi deficiency and blood stasis, the patients with liver depression and spleen deficiency had carcino embryonic antigen (CEA) level decreased significantly ( P<0.01); compared with the patients with qi and yin deficiency, CYFRA21-1 level in the patients with lung yin deficiency increased significantly ( P<0.001) and CYFRA21-1 level decreased in the patients with qi deficiency and blood stasis ( P=0.014); compared with the patients with lung yin deficiency, the level of neuron-specific- enolase (NSE) in the patients with lung qi and spleen qi deficiency. The level of NSE decreased ( P=0.044), and the level of NSE increased significantly in patients with liver depression and spleen deficiency ( P=0.005); there was no significant difference in the level of SCC between different syndromes ( F=0.825, P=0.551). The syndrome of deficiency of lung yin was moderately correlated with chronic bronchitis, smooth margin and burr ( r=0.613, -0.628, 0.755). The syndrome of qi and yin deficiency was lowly correlation to the solidity ( r=-0.421). The syndrome of lung qi and spleen qi deficiency was moderately correlation with the solidity ( r=0.540), and were low correlation with the chronic bronchitis history, ground glass, round, quasi round, and smooth edge ( r value was 0.303, -0.495, 0.376, -0.337, 0.319 respectively); liver depression and spleen deficiency syndrome were correlated with smoking history, chronic bronchitis history, left lower lobe of lung, isolated focus, multiple focus, quasi circle, NSE ( r value was -0.099, -0.150, 0.120, 0.113, -0.113, -0.107, 0.133 respectively); qi deficiency and blood stasis syndrome was moderately correlated with lobular shape ( r=0.682), and slightly correlated with irregular edge ( r=0.470). Conclusions:There is a certain correlation between TCM syndrome differentiation and clinical indexes in patients with pulmonary nodules. The level of tumor markers was different in different syndrome types. Among them, the lung yin deficiency syndrome and qi deficiency and blood stasis syndrome are at high risk of developing malignant tumors, but the lung qi and spleen qi deficiency syndrome, qi and yin deficiency syndrome and liver depression and spleen deficiency syndrome are at low risk of developing malignant tumors.

In recent years, many researchers have devoted themselves to the application of photodynamic therapy (PDT) in root canal disinfection, as conventional root canal disinfection methods have failed to achieve the optimal effect. Some clinicians have also applied PDT to root canal disinfection. PDT is expected to have a better effect than traditional root canal disinfection. This paper reviews the research progress on the mechanism, effect, influencing factors and limitations of PDT in root canal disinfection. Current research suggests that differences in the type and status of the bacteria, photosensitizers, light sources, operating environment and methods all affect the efficacy of root canal disinfection of PDT. Most of the research into PDT for root canal disinfection finds that it is effective, nontoxic, advantageous to dental pulp regeneration and comfortable for the patient, as well as lacking an excitant; however, its bactericidal effect is inferior to that of sodium hypochlorite. At present, it cannot replace traditional chemical washing but is a promising auxiliary method. The design of the photosensitizer, the energy dose of the light source and the optimal irradiation time need to be determined by further experiments, and more clinical verification is needed before its application in root canal therapy.

Objective:This study uses two markers of resting-state functional MRI (r-fMRI) to investigate changes in spontaneous neural activity and their correlation with postpartum depression (PPD) severity.Methods:A total of 15 individuals with PPD, who met the diagnostic criteria for DSM-5 unipolar depression, 24-Item Hamilton Depression Scale (HAMD 24) scores greater than 20, Edinburgh Postnatal Depression Scale (EPDS) score≥12, and 16 postpartum healthy mothers (control group) matched with age and education were examined using r-fMRI. Two-sample t-test was used to compare the amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) values between groups. Pearson correlation analysis was used to determine the correlation between the ALFF and ReHo of the abnormal brain region and the HAMD 24 and EPDS scores. Results:Compared with the healthy control (HC), PPD showed increased ALFF in the right cerebellum anterior lobe culmen and the left dorsolateral prefrontal cortex (DLPFC), and decreased ALFF in the right parietal lobe (individual voxel P<0.005, cluster size >10 voxels, Alphasim correction). PPD had increased ReHo values in the left superior?frontal?gyrus,?orbital?part, inferior?frontal?gyrus,?orbital?part, middle?frontal?gyrus, precuneus, inferior?parietal lobule than HC. Decreased ReHo values were found in the right inferior?occipital?gyrus, inferior?frontal?gyrus, frontal lobule and left cerebellum inferior semi-lunar lobule (individual voxel P<0.005, cluster size>10 voxels, Alphasim correction). The ALFF value of the left DLPFC was positively correlated with the HAMD 24 score in PPD ( r=0.585, P=0.022). Age, body mass index and education years of each subject was included as covariates, partial correlation coefficient was still statistically significant ( r = 0.561, P = 0.046). Conclusion:This r-fMRI study suggested that changes in the spontaneous neural activity of these regions were related to emotional responses. PPD cases with high ALFF values in the left DLPFC had severe depression.

Objective:This study uses two markers of resting-state functional MRI (r-fMRI) to investigate changes in spontaneous neural activity and their correlation with postpartum depression (PPD) severity.Methods:A total of 15 individuals with PPD, who met the diagnostic criteria for DSM-5 unipolar depression, 24-Item Hamilton Depression Scale (HAMD 24) scores greater than 20, Edinburgh Postnatal Depression Scale (EPDS) score≥12, and 16 postpartum healthy mothers (control group) matched with age and education were examined using r-fMRI. Two-sample t-test was used to compare the amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo) values between groups. Pearson correlation analysis was used to determine the correlation between the ALFF and ReHo of the abnormal brain region and the HAMD 24 and EPDS scores. Results:Compared with the healthy control (HC), PPD showed increased ALFF in the right cerebellum anterior lobe culmen and the left dorsolateral prefrontal cortex (DLPFC), and decreased ALFF in the right parietal lobe (individual voxel P<0.005, cluster size >10 voxels, Alphasim correction). PPD had increased ReHo values in the left superior?frontal?gyrus,?orbital?part, inferior?frontal?gyrus,?orbital?part, middle?frontal?gyrus, precuneus, inferior?parietal lobule than HC. Decreased ReHo values were found in the right inferior?occipital?gyrus, inferior?frontal?gyrus, frontal lobule and left cerebellum inferior semi-lunar lobule (individual voxel P<0.005, cluster size>10 voxels, Alphasim correction). The ALFF value of the left DLPFC was positively correlated with the HAMD 24 score in PPD ( r=0.585, P=0.022). Age, body mass index and education years of each subject was included as covariates, partial correlation coefficient was still statistically significant ( r = 0.561, P = 0.046). Conclusion:This r-fMRI study suggested that changes in the spontaneous neural activity of these regions were related to emotional responses. PPD cases with high ALFF values in the left DLPFC had severe depression.

To compare the effect of three different surface zirconium oxide treatments on binding strength and fracture patterns between zirconia and veneering ceramics.
 Methods: A total of 40 zirconia specimens and 10 nickel-chromium alloy were divided into 5 groups (n=10 in each group): a treatment group by zirconium oxide sand-blaste (Group A), a zirconia bonded porcelain group (Group B), a hot-etching solution group (Group C), a non-treatment zirconia (Group D) and a non-treatment nickel-chromium alloy group (Group E). After all treatments, a veneering porcelain (4 mm×4 mm×2 mm) was formed onto the center of all substrate specimens by plastic coating method. Shear bond strength (SBS) test with a universal testing machine was used in each group. Scanning electron microscopy was used to observe the surface morphology of the damaged specimen interface, which was randomly selected from each group.
 Results: The SBS test showed that there was no significant difference in SBS results between the Group A, the Group B and the Group D (both P>0.05), and both of them were significant less than that in the group E (both P<0.05). The SBS results in the Group C were significantly higher than that in the Group D, the Group A, and the Group B (all P<0.05), but there were no significant difference compared with that in the Group E (P<0.05). 
 Conclusion: Sand-blaste and liner application on zirconia ceramic contribute no effect to binding strength between zirconia and veneering ceramics, but hot-etching solution can increase the binding strength between zirconia and veneering ceramics.
Ceramics ; Dental Bonding ; Dental Stress Analysis ; Dental Veneers ; Materials Testing ; Microscopy, Electron, Scanning ; Shear Strength ; Stress, Mechanical ; Surface Properties ; Zirconium

Objective To study the clinical, laboratorial, histopathological, imaging features of two cases of hypothyroid myopathy. Method Clinical manifestations, thyroid function, electromyography, muscle MRI, muscle biopsy and follow-up results were collected, and analyzed with the literature. Result These two patients were middle-age to old age and the onset of disease was insidious. Their common clinical manifestations included subacute progressive weakness in the proximal muscles,myalgia after sports and reduction in tendon reflex.The blood test showed an increase in serum concentration of CK and TSH, and a decrease in FT3 and FT4. The electromyography showed suspicious myogenic damage.Muscle histopathological findings were largely nonspecific,such as type I fiber predominance and type 2 atrophy. The MRI revealed extensive muscular dystrophy and fatty filtration in the posterior group of thighs. Treatment of replacement therapy with L-T4 relieved the myopathic symptoms quickly. Conclusion When a patient presents with a subacute progressive weakness in the proximal muscles, the hypothyroidism should be consideration. Muscle histopathological findings may be nonspecific. The muscle MRI have a value of differential diagnosis and lesion assessment.