OBJECTIVE: To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion. METHODS: A fetus undergone induced abortion due to intrauterine growth restriction and death during second trimester at the the Seventh Affiliated Hospital of Sun Yat-Sen University in 2024 was selected as the study subject. Clinical data of the pregnancy were collected. DNA was extracted from tissues from the aborted fetus and peripheral blood samples from its parents. Chromosomal microarray analysis and whole exome sequencing were carried out. Candidate variants were verified by Sanger sequencing. Following abortion, routine autopsy and pathological analysis were conducted. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: KY-2025-334-01). RESULTS: The aborted fetus was a male and harbored compound heterozygous nonsense variants of the TH gene (c.457C>T/p.Arg153* and c.694C>T/p.Gln232*), for which both parents were heterozygous carriers. Autopsy and pathological analysis revealed that the fetus had pathological features including loose arrangement of myocardial fibers and congestion in the liver. CONCLUSION Biallelic null variants of the TH gene may cause heart failure by affecting the development of cardiovascular system, which in turn may lead to intrauterine death. This study has provided new clues for the molecular diagnosis of stillbirth and recurrent pregnancy loss.
Humans ; Female ; Pregnancy ; Male ; Heterozygote ; Codon, Nonsense/genetics* ; Fetal Growth Retardation/pathology* ; Adult ; Stillbirth/genetics*

Objective:To explore the oral health behavior cognition and care experience of the primary caregivers for children with ectodermal dysplasia.Methods:From February to April 2023, purposive sampling was used to select 10 primary caregivers of children with ectodermal dysplasia who visited the Department of Dental Implantation of the Affiliated Stomatological Hospital of Nanjing Medical University as the research subject. Semi-structured interviews were used to collect data, and Colaizzi 7-step analysis method was used to sort out and analyze the data.Results:The oral health behavior cognition of the primary caregivers for children with ectodermal dysplasia were summarized into three themes, including incomplete oral health behavior cognition, insufficient emphasis on continuity of health education, and high expectations for disease treatment effectiveness. The care experience was summarized into three themes, namely insufficient family and social support, excessive psychological pressure, and feeling confused and unable to cope with the education and guidance of the child.Conclusions:There are many misconceptions among the primary caregivers of children with ectodermal dysplasia regarding oral health behaviors, including insufficient cognition, high psychological pressure, and numerous care issues. We should strengthen the knowledge training of caregivers through various means, increase their cognitive level, attach importance to their psychological guidance, enhance their emotional response ability, reduce the burden of care and improve their care experience.

Objective:To explore the correlations between 11C-2β-carbomethoxy-3β-(4-fluorophenyl)tropane (CFT) microPET/CT imaging and the degree of damage to dopamine neurons in the substantia nigra of midbrain and the severity of Parkinson′s disease (PD). Methods:Sixty male Sprague-Dawley (SD) rats were divided into PD model group ( n=48) and control group ( n=12) by random number table method. The PD model was established by injecting 6-hydroxydopamine (6-OHDA) into the right striatum. The rotational behavior test and 11C-CFT microPET/CT imaging were performed at 1, 2, 3 and 4 weeks after the establishment of PD model. The radioactivity uptake values of bilateral striatum were analyzed and the radioactivity uptake ratio of injured side to healthy side was calculated. The number of tyrosine hydroxylase (TH) immunoreactive positive neurons in the pars compacta of substantia nigra was counted by immunofluorescence staining, and the ratio of total number of TH positive neurons in injured side to healthy side was calculated. Data were analyzed by one-way analysis of variance, the least significant difference t test and Pearson correlation analysis. Results:At 1, 2, 3 and 4 weeks after the establishment of PD model, the rotation speed of PD model to the healthy side was (4.55±1.37), (8.64±1.64), (9.96±1.83) and (11.67±2.77) r/min, respectively, while there was no rotation behavior in the control group. Meanwhile, the ratios of 11C-CFT uptake and the number of TH positive neurons in the PD model group were 0.658±0.038, 0.580±0.094, 0.513±0.042, 0.394±0.065 and 0.698±0.066, 0.604±0.062, 0.546±0.064, 0.315±0.082, respectively, which were significantly lower than those in the control group (0.997±0.048 and 0.996±0.054; F values: 167.50, 169.20, both P<0.05). Correlation analysis showed that 11C-CFT uptake ratio was correlated with rotation behavior (rotation speed) and TH positive neuron ratio ( r values: -0.877, 0.897, both P<0.001). Conclusion:In the PD animal model, the ratios of 11C-CFT uptake has a good correlation with the degree of damage to dopamine neurons in the substantia nigra of the midbrain (TH positive neuron ratio) and the severity of PD.

Purpose To investigate the 18F-FDG PET/CT manifestation ofextranodal NK/T-cell lymphoma (ENKTCL) for providing important reference for the early diagnosis,accurate staging and guiding treatment of the disease.Materials and Methods The imagings and clinical data of twenty-six patients with nasal ENKTCL were analyzed retrospectively.The diagnosis was confirmed by pathological biopsy and immunohistochemistry.The distribution and metabolic signs of the lesions were summarized,and the influence of PET/CT on nasal ENKTCL staging was analyzed.Results Totally 102 positive lesions were detected in 26 patients.The SUVmax of all lesions was 12.2±5.4 (3.2-28.5).The primary lesions were mainly located in the nasal cavity (16/26,61.5％).Facial soft tissue and paranasal sinus tissue involvement were most common adjacent invasions.The distribution of the remaining affected tissues and organs in the whole body showed no obvious regularity.Lymph node involvement was most common in cervical lymph nodes.The lesion detection rates of PET/CT and conventional imaging (plain scan/enhanced CT,plain scar/ enhanced MRI,ultrasound,etc.) in lymph node and extranodal organ involvement were 96.7％ and 65.5％,respectively,and the accuracy of staging were 92.3％ and 73.1％,respectively.Clinical stages were changed in 15 patients (57.7％)because of PET/CT examination,among which,the staging was improved in twelve cases for finding more lesions,the staging of the suspicious lesions were reduced and the nature was defined in three cases because of their lack of metabolism on the PET/CT,and the treatment plan was affected in nine cases for staging adjustment.Conclusion 18F-FDG PET/CT can accurately show the distribution of nasal ENKTCL lesions.Compared with the conventional imaging methods,more lymph nodes and extranodal organ involvement can be detected by 18F-FDG PET/CT,which makes the staging more accurate and guides the clinical treatment more effectively.

Objective The 18F-ML-10 PET/CT apoptosis imaging was taken in the early Parkinson's disease (PD) rat models.The feasibility of diagnosis of PD with 18F-ML-10 PET/CT apoptosis imaging is explored.Methods Twenty adult healthy male Sprague-Dawley rats were randomly divided into control group and PD model group (n=l 0).Intrastriat administration of 6-hydroxy dopamine (6-OHDA) was performed to induce progressive and retrograde degenerative changes in the substantial nigra of neurons (PD models).One week after apomorphine inducement,the rotational behaviors of the rats were evaluated.~C-CFT PET/CT imaging and 18F-ML-10 PET/CT were performed to observe the dopamine transport protein expression in the corpus striatum and apoptosis of dopaminergic neurons in the substantia nigra.Immunofluorescence staining of anti-tyrosine hydroxylase (TH) antibody was performed to evaluate the survival of dopaminergic cells in the compact part of substantia nigra.TUNEL was performed to evaluate the apoptosis of dopaminergic cells in the compact part of substantia nigra.Nissl staining was performed to detect the cellular morphology.Results One week after PD modeling,the rats in the experimental group obviously rotated to the contralateral,and the average rotation speed was (4.52 ±1.03) r/min.The ratio of 11C-CFT between the right and left striatum of rats in the experimental group was 0.556±0.017,which was significantly lower than that of the control group (0.998±0.013,P＜0.05).The radioactivity ratio of'8F-ML-10 between the right and left substantia nigra of rats was 1.722±0.083,which was significantly higher than that of the control group (1.024±0.056,P＜0.05).Immunofluorescence showed that the ratio of TH-positive neurons between the right and left compact part of substantia nigra in rats of the experimental group was 0.528 ±0.012,which was significantly lower than that of the control group (1.036±0.030,P＜0.05).TUNEL showed that the number of dopaminergic neuronal apoptosis in the experimental group was 43.200±2.507,which was significantly larger than that of the control group (1.400±0.427,P＜0.05).Conclusion PD is associated with apoptosis of dopaminergic neurons;18F-ML-10 PET/CT imaging can be used to diagnose PD in the early-stage.

In recent years , there are increasing articles concerning Epstein-Barr virus associated lymphoproliferative disorder (EBV+LPD), and the name of EBV +LPD is used widely.However,the meaning of EBV+LPD used is not the same , which triggered confusion of the understanding and obstacles of the communication.In order to solve this problem.Literature was reviewed with combination of our cases to clarify the concept of EBV +LPD and to expound our understanding about it .In general, it is currently accepted that EBV +LPD refers to a spectrum of lymphoid tissue diseases with EBV infection , including hyperplasia , borderline lesions , and neoplastic diseases .According to this concept , EBV+LPD should not include infectious mononucleosis ( IM ) and severe acute EBV infection ( EBV +hemophagocytic lymphohistiocytosis, fatal IM, fulminant IM, fulminant T-cell LPD), and should not include the explicitly named EBV+lymphomas ( such as extranodal NK/T cell lymphoma , aggressive NK cell leukemia , Burkitt lymphoma, and Hodgkin lymphoma , etc.) either.EBV +LPD should currently include: ( 1 ) EBV +B cell-LPD:lymphomatoid granulomatosis , EBV +immunodeficiency related LPD , chronic active EBV infection-B cell type, senile EBV +LPD, etc.(2) EBV +T/NK cell-LPD:CAEBV-T/NK cell type, hydroa vacciniforme, hypersensitivity of mosquito bite, etc.In addition, EBV+LPD is classified, based on the disease process , pathological and molecular data , as 3 grades:grade1, hyperplasia ( polymorphic lesions with polyclonal cells ); grade 2, borderline ( polymorphic lesions with clonality ); grade 3, neoplasm (monomorphic lesions with clonality).There are overlaps between EBV +LPD and typical hyperplasia, as well as EBV+LPD and typical lymphomas .However , the most important tasks are clinical vigilance , early identification of potential severe complications , and treating the patients in a timely manner to avoid serious complications , as well as the active treatment to save lives when the complications happened .