T were also detected in the controls.Conclusion Nephrotic syndrome may be associated with NPHS2 identified in children.

Acupuncture Therapy ; Adult ; Humans ; Male ; Torticollis ; therapy

Objective To compare the survival rate of two kinds of neurovenofasciocutaneous flaps and investigate the venous reverse flow of flaps.MethodsTen New Zealand White rabbits were randomly allocated into 2 groups of 10 flaps(group A: the lesser saphenous sural pedicled fasciocutanous flaps,blood supply provided with perforator arteries;group B: the lesser saphenous sural pedicled fasciocutanous flaps,blood supply provided with axial type artery).The survival rate of flaps in two groups was observed.Pedicles of flaps were harvested and examined histologically.ResultsThe survival rate of flaps in group A was significantly lower than that in group B[(15.2?16.7)% vs(94.1?6.4)%,P

OBJECTIVESince glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary hemolytic erythrocyte enzyme deficiency, most cases have single nucleotide mutations in the coding region, and current test methods for gene mutation have some missed detections, this study aimed to investigate the feasibility of RT-PCR sequencing in the detection of gene mutation in G6PD deficiency.

METHODSAccording to the G6PD/6GPD ratio, 195 children with anemia of unknown cause or who underwent physical examination between August 2013 and July 2014 were classified into G6PD-deficiency group with 130 children (G6PD/6GPD ratio <1.00) and control group with 65 children (G6PD/6GPD ratio≥1.00). The primer design and PCR amplification conditions were optimized, and RT-PCR sequencing was used to analyze the complete coding sequence and verify the genomic DNA sequence in the two groups.

RESULTSIn the G6PD-deficiency group, the detection rate of gene mutation was 100% and 13 missense mutations were detected, including one new mutation. In the control group, no missense mutation was detected in 28 boys; 13 heterozygous missense mutations, 1 homozygous same-sense mutation (C1191T) which had not been reported in China and abroad, and 14 single nucleotide polymorphisms of C1311T were detected in 37 girls. The control group showed a high rate of missed detection of G6PD deficiency (carriers) in the specimens from girls (35%, 13/37).

CONCLUSIONSRT-PCR sequencing has a high detection rate of G6PD gene mutation and a certain value in clinical diagnosis of G6PD deficiency.

Adolescent ; Child ; Child, Preschool ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; genetics ; Humans ; Infant ; Male ; Mutation ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

By using the Medical Case Inquiry System and registries of infant's birth,the number of women with gestational diabetes mellitus(GDM)and the total number of women delivering in the First and Second Affiliated Hospital of Chongqing Medical University,Chongqing Xinqiao Hospital,and Chongqing Health Center For Women and Children from 2005 to 2009 were obtained.The data of 540 pregnant women with GDM were further analyzed.From 2005 to 2009,the incidence of GDM increased from 2.29% to 3.81 %(P<0.05).The diagnosis of GDM was made earlier by 28.0 weeks in 2009 compared with 31.3 weeks in 2005(P<0.05).Body mass index during GDM diagnosis manifested a growing trend(25.6-28.1 kg/m2),but no significance(P>0.05).From 2005 to 2009,the other related factors,including the average maternal age,the constituent ratio of women with advanced maternal age,pregnancy history,delivery history,and family history of diabetes showed insignificant changes(P>0.05).

Objective To study the clinical characteristics of children with demyelinating disease.Methods Age of onset,presymptoms,clinical manifestations and auxiliary examinations of 51 children diagnosed as demyelinating disease were analyzed retrospectively.Results The onset age was from 3 months to 14 years,and the number of school age children was 38.Before illness,32 cases were relevant to infection,3 cases to vaccine inoculation.Most of children had acute courses.In the initial stage,32 cases with peripheral nervous demyelinating disease presented to paralysis of limbs;18 cases with central nervous demyelinating disease presented to visual disorder,somatasthenia,fever,convulsion and headache.The EMGs of children with peripheral nervous demyelinating disease showed nervous lesion.Among 18 children with central nervous demyelinating disease,17 cases showed abnomal signal on MRI or CT.Conclusions Children with demyelinating disease displays diversified clinical manifestations.By investigating case history combined with auxiliary exaninations,it is not difficult to make a correct diagnosis and its prognosis is good commonly.

Aim To iuvestigate the effect and the mechanism of salmonmilt DNA (SMD) on age-related involutions in mouse thymus. MethodsFemale BALB/c of 10 months were divided randomly into three groupsaccording to their weights: high dosage group 333.33 mg/(kg @ d), lowdosage group 166. 67 mg/(kg @ d) and control group 0 mg/(kg @ d) .After five weeks, with Image-Pro Plus (version. 4.0) software, the thymusindexes and the thymoctytes in the thymus section were measured, as wellas the thymus cortex thickness. All the data were analyzed by SAS statisticsoftware. Mieroarray technique was applied to screen the gene fragments,which were differently expressed between the high dosage group and thecontrol group, together with RT-PCR to further confirm some of them.Results No significant differences of the variables including bodyweight, thymus weight and thymus indexes among the three groups werefound (F ＜ 3.0 and P ＞ 0.05, respectively). The thymocytes quanti-ties of thymus cortex and medulla in the high dosage group were significantlyhigher than those of the control group [cortex D(H, C) = 9.46, P ＜ 0.01;medulla t( H.C) = 2.53, P ＜ 0.05]. The thymus cortex thicknesses of bothSMD supplement groups were significantly higher than that of the control group[cortex D(L,C)=3.65, P＞ 0.05; medulla t(L, C)=0.8, P＞ 0.05] .112differently expressed gene fragments were isolated. Furthermore, we foundthe fragments with the logged number of U23789, X80232 and Aw209102were highly expressed in the high dosage group when RT-PCR techniquewas used. Conclusion SMD may reverse the age-related involutions inmouse thymus via up-regulation the expression of proliferation related genesand development and differentiation related genes simultaneously.

Objective To discuss the diagnostic value of contrast-enhanced ultrasonography in differentiating benign and malignant tumor of pelvic cavity.Methods From October 2014 to January 2016,abdominal ultrasonography or trans-vaginal ultrasonography were performed among outpatients and inpatients in the First Affiliated Hospital of Kunming Medical University.We found 62 cases with pelvic cavity tumors with 64 lumps,which were detected at cystic mass,cystic-solid mass,and solid mass in conventional ultrasonography.We made the diagnosis of all the lumps by performing contrast-enhanced ultrasonography,observing the infusion process and analyzing perfusion pattern,the intensity of perfusion and time intensity curve.By contrasting the diagnosis and the pathologic and long-term follow-up results,we classified the tumors into two groups,benign and malignant.Then we analyzed the time intensity curve and imaging parameters of the two groups.Restlts Among the total 64 lumps,43 was found in the group of benign tumor and 21 in the group of malignant tumor.Sixty-two were proved by pathologic results and 2 were proved by long-term follow-up results.Benign tumors showed that the infusion flowed from the peripheral to the center and enhanced equably and the vessels were regularly shaped.Malignant tumor showed that the infusion infiltrated from the center to the peripheral and enhanced quickly and unequally,and vessels were distorted.In the time intensity curve,group of benign tumors presented a gently slow raise and fall type,and group of malignant tumors showed a quickly raise and fall type.Rise time (RT) of malignant group (7.70 ± 2.56s) was shorter than benign group (11.40 ± 6.77s) (P＜0.05).Peak intensity (PI) of malignant group (16.30 ± 7.41dB) was higher than benign group (12.12 ± 6.70dB) (P＜0.05).Area Under the Curve (AUC) of malignant group (981.65 ± 548.04 dB s) was bigger than benign group (715.22 ± 651.04dB s) (P＜ 0.05).No difference was found between two groups in Time to Peak (TP) and Mean Transit Time (MTF) (P＞ 0.05).The sensitivity,specificity,positive and negative predictive value of contrast-enhanced ultrasonography were 95.2％,93.0％,86.9％,and 97.5％ respectively.Conclusion Contrast-enhanced ultrasonography ean show an eligible blood perfusion and vascularity of lumps.Analyzing perfusion pattern,time intensity curve,and other parameters can improve capacity of diagnosing and differentiating benign tumor and malignant tumor of pelvic cavity.

To retrospectively analyze the clinical data of a child with congenital broncho-bile duct fistula(CBBF) in Guiyang Children′s Hospital in June 2019.A female, aged 7 years and 6 months old, patient presented cough with a large amount of yellow green mucus.The main clinical manifestation was recurrent pulmonary infection after birth.After the fistula was found by electronic bronchoscope, doctors cooperated with imaging department, anesthe-siology department and pediatric surgery department.After treatment, the child recovered and discharged.There are few reports on CBBF.This study suggested that, in view of the refractory pneumonia with recurrent pulmonary infection and yellow green sputum after birth, and that the effect of anti-infection treatment was poor, clinicians should pay attention to the CBBF, take bronchoscopy as soon as possible, and make early diagnosis by combining with imaging technology, thus formulating a reasonable diagnosis and treatment plan under multidisciplinary cooperation, so as to improve the diagnosis and treatment of this rare disease clinical diagnosis and treatment level, and reduce missed diagnosis and misdiagnosis as well.

Objective To study the interobserver variabilities and the differential diagnosis value of Breast Imaging Reporting and Data System-Ultrasound (BI-RADS-US) lexicon for small ( ≤ 2 cm) breast nodules. Methods Between January 2009 and December 2011, 289 patients with small (≤2 cm) breast nodules (n=317) were included. According to sizes, the lesions were divided into two groups, i.e., 0-1 cm (n=160) group and 1-2 cm (n=157)group. Each lesion was described independently by 3 radiologists using BI-RADS-US lexicon. Interobserver variabilities were assessed by Kappa test. Chi-square test was used to compare the frequency difference of the descriptors between malignant and benign lesions. Sensitivity, speciifcity, accuracy, positive predictive value and negtive predictive value were calculated. Results (1)Moderate agreements were obtained for lesion shape, orientation, margin, echo pattern, surrounding tissue and calciifcations (κ=0.44, 0.57, 0.48, 0.43, 0.51 and 0.57) in 0-1 cm group. Substantial agreements were obtained for lesion shape, orientation, margin and echo pattern (κ=0.65, 0.61, 0.64 and 0.63) in 1-2 cm group. (2)Irregular shape, non-parallel orientation, non-circumscribed margin, echogenic halo and microcalciifcations were more frequently found in malignant nodules than in benign nodules in 0-1 cm group [52.3% (34/65) vs 20.0% (19/95), 38.5%(25/65) vs 13.7%(13/95), 75.4%(49/65) vs 32.6%(31/95), 18.6%(12/65) vs 0 (0/95) and 10.8%(7/65) vs 2.1%(2/95);χ2=18.19, 13.08, 28.22, 16.39 and 3.95;P=0.000, 0.000, 0.000, 0.000 and 0.047]. Similarly, irregular shape, non-parallel orientation, non-circumscribed margin, echogenic halo, shadowing, changes of Cooper′s ligament and microcalciifcations were signiifcantly more frequent found in malignant nodules than in benign nodules in 1-2 cm group [74.2%(49/66) vs 12.1%(11/91), 36.3%(24/66) vs 5.5%(5/91), 93.9%(62/66) vs 22.0%(20/91), 37.9%(25/66) vs 3.3%(3/91), 30.3%(20/66) vs 7.7%(7/91), 15.2%(10/66) vs 0 (0/91) and 16.7%(11/66) vs 4.4%(4/91);χ2=62.59, 24.21, 79.40, 31.22, 13.73, 12.30 and 6.67;P=0.000, 0.000, 0.000, 0.000, 0.000, 0.000 and 0.010]. (3)In both groups, a good sensitivity was demonstrated (75.4%&93.9%) when using the non-circumscribed margin as a criterion for malignancy, and high speciifcity was achieved in two groups (80.0%-100%and 87.9%-100%) when other descriptors including irregular shape, non-parallel orientation, echogenic halo, shadowing, changes of Cooper′s ligament and microcalciifcations were used as differentiation criteria. Conclusions Good interobserver agreement can be achieved using the BI-RADS-US lexicon in the diagnosis of small breast nodules. Non-circumscribed margin are proved as the most valuable sign for screening malignant breast lesions ≤ 2 cm. High speciifcity was found for irregular shape, nonparallel orientation, echogenic halo, shadowing, Cooper′s ligament changes and microcalciifcations, which can help biopsy and preoperative diagnosis.