Research status of artificial intelligence and bone age assessment based on deep learning / 中华实用儿科临床杂志

Bone age can objectively reflect the human body growth and accurately assess the physical development level.Bone age assessment plays an important role in the growth and development, disease diagnosis and the monitoring of therapeutic efficacy in children and adolescents.In recent years, the artificial intelligence technology has been developed continuously.Applying artificial intelligence technology is expected to realize the automatic assessment of bone age.At present, the artificial intelligence technology of bone age assessment is mainly based on the deep learning (DL) algorithm.Although there have been many research on DL and bone age assessment, most are still in the experimental stage.This study reviews the research and progress of artificial intelligence technology based on DL applied to bone age assessment, aiming to provide reference and research ideas for relevant staff.

Genotype and phenotype analysis of Coffin-Siris syndrome type 6 caused by novel variant of ARID2: one case report and literature review / 中华内分泌代谢杂志

Objective:To improve understanding of autosomal dominant Coffin-Siris syndrome(CSS) caused by ARID2 variant via analyzing the clinical manifestations and genetic characteristics of this rare disease. Methods:Whole-exome sequencing was performed in a patient with CSS and her parents in Children′s Hospital of Chongqing Medical University, and genotype and phenotype were further analyzed.Results:The 2-month-old girl was admitted to hospital due to repeated vomiting for more than a month and one-time vaginal bleeding. She presented with severe malnutrition, special facial features, premature development of bilateral breasts, hymen protrusion, and vaginal bleeding. Gene sequencing revealed a de novo heterozygous frameshift mutation(c.1919delC, p. P640Lfs*7) in ARID2 gene, and no variant identified with her parents. It has been reported that the clinical manifestations of CSS caused by ARID2 variant are heterogeneous varing, mainly characterized by growth retardation, mental retardation, and feeding difficulties, accompanied by skeletal deformities, behavioral abnormalities, and visual impairment. Endocrine abnormalities are seldomly reported.Conclusion:For patients presenting growth retardation, special facial features, feeding difficulties, and unexplained vaginal bleeding, rare genetic syndrome should be considered and genetic testing be carried out. This is a novel variant(c.1919delC, p.P640Lfs*7) in ARID2.

The value of quantitative PCR detection in early skin tissue fluid of syphilis / 国际检验医学杂志

Objective To study the value of fluorescence quantitative polymerase chain reaction (FQ-PCR) detection in early skin tissue fluid of syphilis.Methods A total of 40 patients of suspected syphilis who received therapy from September 2014 to September 2016 in our hospital were selected in this study.Five mL venous blood samples were collected in all the patients,and detected by toluidine red unheated serum test (TRUST) and treponema pallidum antibody enzyme-linked immunosorbent assay (ELISA),and skin tissue fluid were collected and performed FQ-PCR detection,all patients were treated with benzylpenicillin for 3 and 6 months,then detected again,the conversion rates were record.Results There was no significant difference in the detection rate of ELISA and FQ-PCR[97.50%(39/40) vs.95.00%(38/40),P>0.05].The total detection rate of ELISA and FQ-PCR were significantly higher than that of TRUST[97.50%(39/40) vs.67.50%(27/40),95.00%(38/40) vs.67.50%(27/40),P0.05).In the FQ-PCR detection results,the average value of TP-DNA was significantly decreased after treatment,there were significant differences in the phase Ⅰ,phase Ⅱ compared with before treatment(P<0.05).Conclusion FQ-PCR could be used to measure treponema pallidum (TP-DNA) effectively in early stage,it′s conducive to the diagnosis of syphilis,the clinical application value is high.

Studies of Cystatin C joint eGFR-MDRD for diagnosis of early DN / 中国免疫学杂志

Objective:Comparative analysis detection indexes such as [ inhibition C ( CysC ) , BUN, Scr, eGFR-MDRD and eGFR-cys] of application value in the diagnosis of early DN.Methods: Randomly collected the Type 2 diabetes ( Type 2 diabetes mellitus,T2DM)214 cases patients to our hospital check-up and 100 healthy people from January 2012 to October 2014,and according to the urinary albumin excretion rate could divided into pure T2DM group and diabetes group(DN group),collected the patient′s serum creatinine( Scr) ,urea nitrogen( BUN) ,serum[ inhibition( Cys C) detection indexes such as C,and USES the simplified MDRD formula according to the Scr estimate the eGFR(eGFR-MDRD),while using CysC CHINAcys equation calculated eGFR,eGFR-Cys],make statistical analysis for these measurements.Results: DN group compared with control group ,the BUN,Scr,CysC,eGFR-MDRD and eGFR-cys had significant changes,including BUN,Scr and CysC was significantly higher than control group;EGFR-MDRD and eGFR-cys significantly lower compared with control group,5 testing indexes,P<0.05.Five commonly used detection index curve of ROS area was greater than 0.5,and P<0.05.A single detection index of CysC indicators could reach 80.38,the highest followed by BUN and eGFR-MDRD;And joint detection of eGFR MDRD+Cys C much higher sensitivity and an index of eGFR-MDRD+eGFR-Cys and other individual detection index.Conclusion:eGFR-MDRD CysC indicator in the diagnosis of early DN screening is an effective,feasible, and the method of high accuracy.