1.The pilot study of combined detection of thyroid stimulating hormone and free thyroxine in screening for ;congenital hypothyroidism in neonates
Yingzi YAO ; Ling JIANG ; Cuimei ZHANG ; Xiang HUANG ; Rui LIANG ; Lianhong HIANG ; Zhidan WAN ; Xueqin YAN
Journal of Clinical Pediatrics 2014;(7):649-652
Objective To explore the clinical signiifcance of combined detection of thyroid stimulating hormone (TSH) and free thyroxin (FT4) in dried blood spots in screening for congenital hypothyroidism (CH) in neonates. Methods The TSH and FT4 levels in dried blood spot were measured by time-resolved lfuorescence immunity in live born neonates from June to December 2013. If the screening was positive, the blood was drawn and the serum TSH and FT4 were measured and compared with the results from dried blood spots. Results In a total of 31 199 neonates screened, 12 cases were diagnosed with CH and the prevalence rate of CH was 1/2 600;4 cases were hyperthyropinemia and no pituitary CH was detected. There was no signiifcant difference between TSH or FT4 levels in dried blood spot and those in serum in neonates diagnosed with CH (P>0.05). Conclusions Combined detection of TSH and FT4 in dried blood spot can be used for neonatal screening of CH. It can be applied for early distinguishing CH from hyperthyropinemia, and also helpful for early diagnosis and treatment of central CH.
2.Developing Syllabus for Rare Breast Diseases Using the Integrated Multimodality of Case-/Problem-/Resource-Based Learning
Ru YAO ; Jiahui ZHANG ; Jie LIAN ; Yang QU ; Xinyue ZHANG ; Xin HUANG ; Lu GAO ; Jun ZHAO ; Li HUANG ; Yingzi JIANG ; Linzhi LUO ; Songjie SHEN ; Feng MAO ; Qiang SUN ; Bo PAN ; Yidong ZHOU
JOURNAL OF RARE DISEASES 2024;3(3):391-399
This study aims at establishing a teaching catalog and content for breast rare diseases and developing the syllabus for the breast rare disease using integrated multimodality of case-/problem-/resource-based learning (CBL+PBL+RBL). By conducting bibliometrics co-occurrence analysis, we collected 6291 articles on breast rare disease published from January, 1975 to June, 2024. Additionally, we retrieved the Textbook on Rare Diseases, the Catalog of Chinese Rare Disease, and Second Batch of Rare Disease Catalog and then decided the teaching content. From 16, 387 keywords, 1000 (6.1%) keywords were identified through co-occurrence analysis, including 50(0.3%) candidate diseases. These were classified into three categories: rare primary breast diseases, rare genetic mutation-related diseases associated with breast cancer, and rare systemic multi-system diseases involving the breast. From the candidate list, 20(0.1%) rare primary breast diseases were further selected for their notable clinical teaching significance, and significant multi-systemic diseases affecting the breast, whether related to gene mutations or not. Teaching plans were drafted using a diversified parallel teaching approaches, taking into account the characteristics of different diseases and the focus of different teaching methods. This study initiated the development of the teaching content for breast rare diseases and developed the teaching syllabus using the CBL+PBL+RBL integrated multi teaching model and targeting each rare breast disease for the critical point for teaching.
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