Objective To investigate the incidence of radioactivity uptake in thymus combined with serum thyroglobulin (Tg) increase in differentiated thyroid cancer (DTC) patients after high-dose 131I treatments,in order to discuss the mechanism of thymus iodine uptaking and Tg increasing.Methods Retrospective analysis of the laboratory examinations and 131Iwhole body scan (131I-WBS) images in 316 DTC patients were performed.The radioactivity uptake in thymus and the Tg level were observed.Results Among 316 patients (total 735 case-times),4 patients of 5 cases-times 131I-WBS showed radioactivity uptake in thymus,accounting for 0.68％ (5/735).All the radioactivity uptake in thymus were found by posttreatment 131I whole body scan (Rx-WBS) and after the second radioactive iodine treatment.For 1 of 4 patients,Rx-WBS still showed thymic uptake 131I after the third radioactive iodine treatment.The serum Tg increased in 3 patients (4 caestimes Rx-WBS) of radioactivity uptake in thymus with the Tg level before Rx-WBS was 13.80 μg/L,＞300.00 μg/L,16.40 μg/L,20.60μg/L,respectively.Conclusion In order to avoid the inappropriate administration of radioiodine therapy,thymic uptake should be identified carefully in DTC patients whose radioactivity uptake is only found at the upper mediastinal and combined with serum Tg increase.

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OBJECTIVE: To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1. METHODS: Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed. RESULTS: The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9. CONCLUSION The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; genetics ; Craniofacial Abnormalities ; genetics ; DNA Copy Number Variations ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Intellectual Disability ; genetics ; Ring Chromosomes

OBJECTIVE: To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). METHODS: High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child. RESULTS: No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent. CONCLUSION The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.
Blepharophimosis ; genetics ; Child ; Congenital Hypothyroidism ; genetics ; DNA Copy Number Variations ; Facies ; Female ; Heart Defects, Congenital ; genetics ; Histone Acetyltransferases ; genetics ; Humans ; Intellectual Disability ; genetics ; Joint Instability ; genetics ; Mutation ; Phenotype ; Pregnancy

OBJECTIVE: To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation. METHODS: The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent. CONCLUSION The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
Child ; Chromosome Banding ; Cytogenetic Analysis ; Genetic Testing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male

Objective:To predict the short-term postoperative recurrence status of patients with refractory temporal lobe epilepsy (TLE) by analyzing preoperative 18F-FDG PET images and patients′ clinical characteristics based on deep residual neural network (ResNet). Methods:Retrospective analysis was conducted on preoperative 18F-FDG PET images and clinical data of 220 patients with refractory TLE (132 males and 88 females, age 23.0(20.0, 30.2) years)) in the First Affiliated Hospital of Jinan University between January 2014 and June 2020. ResNet was used to perform high-throughput feature extraction on preprocessed PET images and clinical features, and to perform a postoperative recurrence prediction task for differentiating patients with TLE. The predictive performance of ResNet model was evaluated by ROC curve analysis, and the AUC was compared with that of classical Cox proportional risk model using Delong test. Results:Based on PET images combined with clinical feature training, AUCs of the ResNet in predicting 12-, 24-, and 36-month postoperative recurrence were 0.895±0.073, 0.861±0.058 and 0.754±0.111, respectively, which were 0.717±0.093, 0.697±0.081 and 0.645±0.087 for Cox proportional hazards model respectively ( z values: -3.00, -2.98, -1.09, P values: 0.011, 0.018, 0.310). The ResNet showed best predictive effect for recurrence events within 12 months after surgery. Conclusion:The ResNet model is expected to be used in clinical practice for postoperative follow-up of patients with TLE, helping for risk stratification and individualized management of postoperative patients.