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.

Feasibility study on developing clinical pediatrics curriculum for medical students engaged in long schooling system in the pre-clinical stage / 中华医学教育探索杂志

Objective:To analyze the feasibility of developing clinical pediatrics curriculum for pediatric students at the pre-clinical stage, and to provide a basis for the subsequent curriculum construction.Methods:A total of 90 pediatric medical students were enrolled, including pre-clinical group (G1, third semester of the second year, n=47) and the clinical clerkship group (G2, seventh semester of the fourth year, n=43). A questionnaire survey was conducted to compare the two groups from three aspects: clinical interest, learning methods and learning ability. And 24 and 20 students were randomly selected from the two groups to participate a clinical course respectively. Both of the formative evaluation and in-class test were carried out to compare the learning performance and learning effect between G1 and G2. SPSS 22.0 was used for data analysis. The counting data were described by case number and rate, and the frequency between groups was compared by chi-square test. When the chi-square test condition is not met, Fisher's exact test was performed. Normal distribution test was carried out for measurement data. Two independent sample t test was conducted for the comparison between groups of normal distribution data and Mann-Whitney U test for the comparison between groups of skewed distribution respectively. Results:There was no significant difference in clinical interest and pre-clinical interest between the two groups (Fisher's exact probability method, P=0.252, 1.000). There were partial differences in learning methods: G1 spent more time learning after class ( Z=-2.36, P=0.018), learned more in spare time ( Z=2.53, P=0.011), learned more on the homework ( P=0.020), and had a higher preview rate ( Z=-5.07, P < 0.001). There were also partial differences in learning ability: G2 had better literature retrieval ability ( χ2=10.57, P=0.001); G2 had higher scores on class and extended class performance ( t=-3.18, P=0.004; t=-10.14, P<0.001). In terms of learning effect, G2 scored higher scores on only one multiple choice question ( t=-2.46, P=0.022). Conclusion:The pediatrics students at the pre-clinical stage have certain interest and ability to receive clinical pediatrics courses. Sufficient pre-class preparation and appropriate curriculum design are helpful to the early cultivation of student's clinical thinking.

Genotype and phenotype analysis in a case of cutis laxa type 3 / 中华内分泌代谢杂志

Objective:To report the clinical and genetic characteristics of autosomal dominant cutis laxa type 3 caused by ALDH18A1 mutation, and therefore to further understand this rare disease.Methods:High-precision full-exon sequencing was performed for the patient from the Department of Endocrinology and Genetic Metabolism, Children′s Hospital of Chongqing Medical University and genotype-phenotype correlation was summarized. Relevant literature was also reviewed.Results:A 9-month-old boy was admitted with complaint of " development retardation for 9 months, cough for 3 days" , accompanied by skin laxity, special features, skeletal malformation, tracheal bronchus, inguinal hernia, gastroesophageal reflux, and abnormal creases on palms. The heterozygous variation of ALDH18A1 c. 274C>G(p.Leu92Val) on chromosome 10 was revealed using high-precision full-exon sequencing. Together with imaging and metabolomics results, the diagnosis of cutis laxa type 3 was determined. The clinical presentations of this disease are variable, encompassing skin, bone, joint, and neuromuscular system.Conclusion:For suspected pediatric case, it is very important to evaluate the clinical manifestations and metabolic index at regular intervals, and to identify the molecular basis of the disease with gene sequencing early on.

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.

Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families.</p><p><b>RESULTS</b>Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes.</p><p><b>CONCLUSIONS</b>c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.</p>

The reform of pediatric teaching course with multidisciplinary integration / 中华医学教育探索杂志

In order to optimize the curriculum structure, improve the quality of the traditional med-ical curriculum which separates the theory teaching and clinical teaching in medical education; give full play to the advantages of the multiple disciplines application to guide students to establish a holistic view of medicine; cultivate students'! independent thinking and team cooperation ability, we explore the reform model of the pediatric teaching courses from the following five aspects:curriculum design, class hour arran-gement, teaching team building, teaching carrier production and application of problem-based learning (PBL) teaching method. Preliminarily establish the teaching mode in multi disciplines integration which is characterized by taking a certain symptom or sign as leading clue.

Propensity score-matching method for evaluating the effect of anatomic liver resection and non-anatomic liver resection on prognosis of hepatocellular carcinoma patients / 第二军医大学学报

Objective To compare the prognoses of hepatocellular carcinoma (HCC) patientswho underwent anatomic liver resection (AR) or non-anatomic liver resection (NAR) using propensity score-matching methods. Methods We retrospectively analyzed the clinical data of 124 HCC patients who were treated in the First Affiliated Hospital of Nanchang University between Jan. 2010 and Dec. 2015. The patients included 64 undergoing AR (AR group), and 60 undergoing NAR (NAR group). Propensity score-matching methods were used to assess the overall survival (OS) of the patients in AR and NAR groups whle controlling the potential confounders, and the risk factors of prognosis of HCC patients were analyzed by Cox proportional hazardmodel. Results In the propensity score-matching cohort, the OS of the patients in AR group (n=29) was significantly longer than that in the NAR group (n=45) after propensity score-matching (52 [44. 83-59. 17] months vs 38 [31. 45-44. 55] months, P = 0. 005). The Cox proportional hazards model revealed that AR was associatedwith a superior OS (HR=0. 54, 95%CI 0. 30-0. 96, P =0. 04). Conclusion Propensity score-matching method has shown that AR can better improve the OS in HCC patients after liver resection compared withNAR.

Effect of age on prognosis of hepatocellular carcinoma patients with diabetes mellitus: A propensity-score matching analysis / 第二军医大学学报

Objective To explore the effect of age on prognosis of patients with hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) complicated with diabetes mellitus (DM) after radical resection. Methods The clinical data of 250 patients with HBV-related HCC complicated with DM who received radical resection were collected from the First Affiliated Hospital of Nanchang University and the Eastern Hepatobiliary Surgery Hospital and were retrospectively analyzed. The patients aged 30-80 years old and were divided into the elder group (≥60 years n=58) and the non-elder group (<60 years, n=192). Propensity score matching (PSM) method was used for covariate balance and the overall survival (OS) rates were compared between the two groups. Cox regression was used to analyze the risk factors influencing the prognosis of HCC. Results In the PSM cohort (n=53 in elder group, n=85 in non-elder group), the 1-, 3-, 5-year OS rates were not significantly different between the two groups (P =0. 15). The results of Cox multivariate regression analysis revealed that age was not significantly associated with OS of patients with HBV-related HCC complicated with DM. Conclusion Elder age seems not to decrease the OS of patients with HBV-related HCC complicated with DM after radical resection; elder patients can obtain similar survival as the non-elder ones.

Relationship between metastasis or recurrence of hepatocellular carcinoma and hepatitis B virus DNA or double mutation at 1762/1764 in the basic core promoter / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To study the relationship between metastasis or recurrence of hepatocellular carcinoma (HCC) and hepatitis B virus (HBV) DNA load or the presence of double mutation at 1762/1764 in the basic core promoter (BCP).</p><p><b>METHODS</b>One-hundred-and-fifty-seven patients with HCC were included in the study. Events of tumor metastasis or recurrence were recorded during 120 weeks of clinical follow-up after treatment by surgery or transarterial chemoembolization (TACE). The 1-year follow-up included monthly alpha fetoprotein (AFP) measurement and abdominal ultrasonography (US), as well as helical computed tomographic (CT) scan performed every 3 months. Follow-up beyond 1-year (surveillance) included AFP measurement and abdominal US every 2 months and helical CT scan every 6 months. Suspected metastasis or recurrence was investigated by hepatic angiography and confirmed according to the combined imaging findings. Serum HBV DNA level was measured by real-time PCR. HBV genotypes were determined by PCR-restriction fragment length polymorphism analysis.</p><p><b>RESULTS</b>Of the 157 HCC cases 110 experienced tumor metastasis or recurrence; the cumulative probability of post-treatment HCC metastasis or recurrence was 4 (2.55%) at week 12, 14 (8.92%) at week 24, 28 (17.83%) at week 48, 64 (40.76%) at week 72, 92 (58.60%) at week 96, and 110 (70.06%) at week 120. Multivariate analysis indicated that both the BCP 1762/1764 double mutations and HBV DNA levels were risk factors for HCC recurrence or metastasis. In particular, the incidence of HCC recurrence or metastasis increased with baseline serum HBV DNA levels in a dose-response manner, ranging from 8/19 (42.1%) for less than 3 log10 copies/ml HBV DNA to 35/61 (57.3%) for 3-5 log10 copies/ml and 67/77 (87.0%) for more than 5 log10 copies/ml. After adjusting for potential confounders, serum HBV DNA level remained independently associated with HCC metastasis or recurrence. HCC recurrence or metastasis occurred in 22/43 (51.2%) of patients without BCP 1762/1764 mutations and 88/114 (77.2%) of patients with BCP 1762/1764 mutations. The adjusted odds ratio for patients infected with BCP 1762/1764 double mutation HBV, compared with those infected with non-BCP 1762/1764 mutation HBV, was 5.264 (95% CI: 1.436-12.574, P less than 0.05).</p><p><b>CONCLUSION</b>Infection with HBV carrying the BCP 1762/1764 double mutation and presence of high HBV DNA load are independent risk factors for developing HCC metastasis or recurrence after surgery or TACE.</p>

Diagnostic value of MRI for giant cell tumor of tendon sheath / 上海第二医科大学学报

Objective To analyze the value of MRI in the diagnosis of giant cell tumor of tendon sheath(GCTTS). MethodsThe MR images of 21 GCTTS cases including 3 cases of recurrences were retrospectively evaluated.All were confirmed giant cell tumor of tendon sheath by surgery and pathology.All the patiens were examined by MRI,and 19 received contrast enhanced MRI.The characteristics of MRI presentations were explored.Results Of the 21 cases,17 were in diffuse form and 4 in localized form.On T1WI,the signal intensities of the giant cell tumor of tendon sheath almost equalled to those of skeletal muscle in 18 cases and were slightly lower than those of skeletal muscle in 3 cases.On T2WI,the signal intensities tended to range between those of skeletal muscle and fat in 7 cases,almost equalled to those of skeletal muscle in 12 cases,and were slightly lower than those of skeletal muscle in 2 cases.Of the 19 cases with gadolinium-enhanced images,17 showed inhomogeneous enhancement and 2 homogeneous enhancement,and all were observed with a fat suppression sequence on T1WI. Conclusion MRI is able to depict the characteristic internal signal of giant cell tumor of tendon sheath,which is a valuable for diagnosis,treatment and follow-up.

Condition of anemia and Iron storage in premenopausal nonpregnant women and first to second trimester pregnant women in Kai County Chongqing China / 重庆医科大学学报

0.05).The prevalence rates of ID in first trimester group and second trimester group were 14.29% and 33.81%,respectively,showing significantly higher rate in the latter group(?2=6.33,P

Cytogenetic and molecular genetic analysis of Down's Syndrome-287 cases / 重庆医科大学学报

Objective:To better understand the karyotype distribution ofthe patients with Down's syndrome(DS)who have been finally diagnosed in our hospital.To compare the strengths of G-banding karyotype analysis and FISH(Fluorescence In Situ Hybridization, FISH)in diagnosing the DS patients with the Chromosome mosaicism and Calculating the percentage of abnormal karyotypes.Methods:Blood of the patients who were likely to suffer from DS was selected for G-banding karyotype analysis to describe the karyotype distribution.5 of the finally diagnosed patients with the chromosome mosaicism were randomly selected for FISH to compare the percentage of abnormal karyotypes of the two methods.Results:287 DS patients were diagnosed,91.29%of whom had the simple karyotype.Among the patients with the translocation karyotype, 11 D/G translocation karyotype were detected,accounting for 73.33%,while 4 G/G translocation karyotype were diagnosed, constituting 26.67%.One patient with both of the translocation karyotype and the mosaicism karyotype was detected in our research,which was uncommon in recent report.The results of FISH and G-banding karyotype analysis were consistent.There was no significant difference of the abnormal karyotype rates for DS patients with the chromosome mosaicism by G-banding karyotype analysis and FISH.Conclusion:The simple karyotype is the main karyotype of the DS patients in our research.Among the translocation karyotype,the D/G kind is common.DS patients can be diagnosed efficiently by G-banding karyotype analysis,but we still suggest to use FISH to get the proportion of the abnormal cell for the patients who have less triploid cell and slighter clinical manifestation.