Comparison of the clinical value of ultrasonic elastography and common ultrasonic features in diagnosing papillary thyroid carcinoma / 中国基层医药

Objective@#To compare the clinical value of ultrasonic elastography (UE) and three common ultrasonic features in diagnosing papillary thyroid carcinoma (PTC).@*Methods@#From January 2012 to December 2017, the clinical data of 105 cases with PTC which were confirmed by postoperative pathologic examination and 20 cases with benign thyroid nodules (BTN) in the Integration of Chinese and Western Medicine Hospital Affiliated to Nanjing University of Traditional Chinese Medicine were analyzed retrospectively.The UE and common ultrasonic features comprising a taller-than-wide shape, irregular margins and microcalcifications were analyzed.The sensitivity, specificity and area under curve (AUC) of PCT dingnosis with two different ultrasonic parameters are calculated.@*Results@#Based on surgical pathology, the diagnostic sensitivity of irregular boundary is the highest amony the three paraneters of ordinary ultrasound.Although an irregular margin showed higher sensitivity than taller-than-wide shape and microcalcifications with 71.42% vs.59.04% vs.60.00%, but there was no statistically significant difference (χ2=4.3, P=0.116). There was also no statistically significant difference in specificity (χ2=0.134, P=0.935). The diagnostic efficiency of UE was higher than taller-than-wide shape (Z=3.046, P=0.002), irregular margin(Z=2.962, P=0.003) as well as microcalcifications(Z=3.942, P=0.000), the difference was statistically significant(P<0.05). The diagnostic efficiency of UE was higher than the combined three common ultrasonic features together (Z=3.125, P=0.001).@*Conclusion@#UE score shows a higher diagnostic efficiency, easy to perform, indicating the important application value in preoperative diagnosis of PTC, and is worthy of promoting in clinic.

Comparison of the clinical value of ultrasonic elastography and common ultrasonic features in diagnosing papillary thyroid carcinoma / 中国基层医药

Objective To compare the clinical value of ultrasonic elastography ( UE) and three common ultrasonic features in diagnosing papillary thyroid carcinoma ( PTC).Methods From January 2012 to December 2017,the clinical data of 105 cases with PTC which were confirmed by postoperative pathologic examination and 20 cases with benign thyroid nodules (BTN) in the Integration of Chinese and Western Medicine Hospital Affiliated to Nanjing University of Traditional Chinese Medicine were analyzed retrospectively.The UE and common ultrasonic features comprising a taller -than-wide shape,irregular margins and microcalcifications were analyzed.The sensitivity, specificity and area under curve ( AUC) of PCT dingnosis with two different ultrasonic parameters are calculated. Results Based on surgical pathology ,the diagnostic sensitivity of irregular boundary is the highest amony the three paraneters of ordinary ultrasound.Although an irregular margin showed higher sensitivity than taller -than -wide shape and microcalcifications with 71.42% vs.59.04% vs.60.00%,but there was no statistically significant difference (χ2 ＝4.3,P＝0.116).There was also no statistically significant difference in specificity (χ2 ＝0.134,P＝0.935). The diagnostic efficiency of UE was higher than taller -than-wide shape (Z＝3.046,P＝0.002),irregular margin (Z＝2.962,P＝0.003) as well as microcalcifications (Z＝3.942,P＝0.000),the difference was statistically signifi-cant(P＜0.05).The diagnostic efficiency of UE was higher than the combined three common ultrasonic features together (Z＝3.125,P＝0.001).Conclusion UE score shows a higher diagnostic efficiency ,easy to perform, indicating the important application value in preoperative diagnosis of PTC ,and is worthy of promoting in clinic.

Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic mutations in 25 Chinese pedigrees affected with congenital adrenal hyperplasia (CAH).@*METHODS@#Mutations of the CYP21A2 gene were detected with locus-specific PCR/restriction endonuclease analysis, multiplex ligation-dependent probe amplification assay, and direct sequencing of the entire CYP21A2 gene. Prenatal diagnosis was offered to fetuses at risk for CAH.@*RESULTS@#All 50 alleles of the CYP21A2 gene carried by the 25 pedigrees were successfully delineated. Large deletions and conversions have accounted for 16 (32%) of the alleles, which included 9 entire CYP21A2 gene deletions, 6 chimeric CYP21A1P/CYP21A2 genes, and 1 partial conversion of the CYP21A2 gene. For the remaining 34 alleles, there were 9 micro-conversions and 4 de novo mutations [including a previously unreported c.62G>A (p.Trp21X) mutation]. Prenatal diagnosis was provided for 28 fetuses with a high risk for CAH, among whom 8 were found to be affected.@*CONCLUSION@#The detection of CYP21A2 gene mutations can facilitate appropriate genetic counseling and prenatal diagnosis for the affected pedigrees.

The effect of oral care on the prevention of ventilator associated pneumonia in patients with severe traumatic brain injury by aspiration of subglottic secretion combined with 2%acetic acid chloride solution / 中国实用护理杂志

Objective To explore the effect of oral care on the prevention of ventilator associated pneumonia in patients with severe traumatic brain injury by aspiration of subglottic secretion combined with 2% acetic acid chloride solution. Methods A total of 100 cases of ICU patients with mechanical ventilation for longer than 48 hours were divided into group B and group C using a random number table method according to tracheotomy mechanical ventilation time sequence number from January 2014 to June 2015. Another 50 ICU patients in group A (as the case for retrospective analysis, from April to November , 2013) were treated by routine tracheal suction, normal saline cotton for oral care, group B were treated with aspiration of subglottic secretion, normal saline cotton for oral care, group C were treated with aspiration of subglottic secretion combined with 2% acetic acid chloride solution for oral cleaning. And then VAP occurrence rate, plaque index, plaque clearance were evaluated. Results The incidence rates of early onset VAP in three groups were 14% (7/50), 8% (4/50), 4% (2/50), and incidence rates of late onset VAP were 22% (11/50),12% (6/50), 8% (4/50) respectively, the differences were significant (χ2=3.65, 3.88,P<0.01). The plaque index and plaque clearance rates of the three groups on the third day were 2.14± 0.35, (40.12 ± 13.11)%, 2.10 ± 0.33, (39.17 ± 14.21)%, 1.03 ± 0.24, (60.12 ± 15.07 )%(F=12.21,χ2=3.82,P<0.01);while on the 7th day, they were 1.76 ± 0.47, (41.12 ± 13.34)%, 1.80 ± 0.32, (39.37 ± 12.21)%, 0.99 ± 0.15, (60.33 ± 14.25)%(F=13.14,χ2=4.20,P<0.01). Conclusions The incidence rate of VAP can be decreased by the combination of aspiration of subglottic secretion and oral cleaning with 2%acetic acid chloride solution.

Development and application of molecular diagnostic method of hemophilia A / 中华检验医学杂志

Objective To develop and validate a method for detecting factor 8 gene (F8) mutations in hemophilia A patients by Ion Torrent semiconductor sequencing .Methods Intron 22 and intron 1 inversions of F8 gene were identified by long distance PCR (LD-PCR), other mutations in the F8 gene were identified by Ion Torrent sequencing.Candidate variants were validated by Sanger sequencing .Sanger sequencing was applied to screen HA carriers from 11 female family members in the 8 pedigrees.One pregnant woman was offered prenatal diagnosis via analyzing the fetal DNA obtained through amniocentesis . Results Four missense mutations ( c.1331A >C, 1648C >T, c.6506G >A, c.6544C >T), two frameshift mutations ( c.2393 _2394insT, c.6320delG), one splicing mutation ( IVS5 +5G >A), one nonsense mutation (c.43C >T) and one Inv22 mutation were identified in all nine probands respectively . Among 11 female family members, 10 females were identified to be HA carriers, and one didn′t carry the maternal pathogenic mutation.Prenatal diagnosis result showed that the fetus inherited the wild -type maternal allele and was predicted to be unaffected by HA .Conclusion The targeted Ion Torrent sequencing is a reliable and efficient method to detect F8 mutations in patients with Hemophilia A disease .

Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To develop and validate a method for mutation screening and prenatal diagnosis of TSC1/TSC2 mutations among patients with tuberous sclerosis complex (TSC) by Ion Torrent semiconductor sequencing.</p><p><b>METHODS</b>Potential mutations of SC1/TSC2 gene was detected in 2 TSC families and 1 sporadic TSC patient using an Ion Torrent PGM sequencer. Candidate variants were validated by Sanger sequencing. The corresponding site of TSC2 in the fetus of family 2 was also detected with Sanger sequencing.</p><p><b>RESULTS</b>Ion Torrent semiconductor sequencing has identified a probably pathogenic TSC2 mutation (c.311-312insGCTG) in the patient from family 1, and a probably pathogenic TSC2 mutation (c.1790A>G) in the patient of family 2.</p><p><b>CONCLUSION</b>Targeted Ion Torrent PGM sequencing is an accurate and efficient method to detect TSC1/TSC2 mutations in TSC.</p>

Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Molecular analysis of the MUT, MMACHC, MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing. Candidate mutations were validated by Sanger sequencing. The couple was offered prenatal diagnosis via analyzing of the fetal DNA through amniocentesis.</p><p><b>RESULTS</b>The proband was found to be compound heterozygous for c.609G>A (p.Trp203X) and c.658-660del AAG (p.Lys220del) mutations, which were inherited respectively from each of his parents. Prenatal diagnosis showed that the fetus has inherited two wild-type parental alleles.</p><p><b>CONCLUSION</b>The targeted Ion Torrent PGM sequencing has detected pathogenic mutations in the Chinese pedigree affected with methylmalonic academia, which has provided molecular evidence for clinical diagnosis, genetic counseling and prenatal diagnosis for the family.</p>

Effect research of two kinds of airway humidification solution for patients with tracheotomy of airway humidification / 中国实用护理杂志

Objective To compare the influence of tracheotomy after two wet fluid on airway and provide the basis for clinical treatment and care. Methods A total of 30 patients with severe brain injury stay neurosurgery tracheotomy were divided into 0.45% sodium chloride group and ambroxol hydrochloride group with 15 cases each by random digits table method, two airway humidification liquid (0.45%sodium chloride,0.9% sodium chloride + ambroxol hydrochloride) were each instilled in the trachea inner sleeve. Blood gas analysis was performed and the levels of serum lung surface active substances related protein-A (SP-A protein), interleukin-6, interleukin-8, tumor necrosis factor-alpha(TNF-α) were measured by enzyme linked immunosorbent assay (ELISA) before 1 d and after 3,7,14 d of tracheotomy. Results There were significant differences in arterial blood oxygen partial pressure, arterial carbon dioxide partial pressure, oxygenation index after 14 d of tracheotomy between ambroxol hydrochloride group and 0.45% sodium chloride group:(110.72±26.75) mmHg(1 mmHg=0.133 kPa) vs.(89.39±21.98) mmHg, (30.44±6.75) mmHg vs. (35.12±7.28) mmHg, 333.23±80.56 vs. 270.93±77.21, t=29.49,-8.63,7.44, P<0.01.There were significant differences in the levels of serum SP-A protein, interleukin -6, interleukin -8, TNF-α after 14 d of tracheotomy between ambroxol hydrochloride group and 0.45% sodium chloride group:(191.34 ±1.21) ng/L vs. (61.92 ±12.0) ng/L, (2.62 ±0.23) ng/L vs. (5.42 ±0.16) ng/L, (124.56 ±2.10) ng/L vs. (185.91 ±1.48) ng/L, (31.32±1.38) ng/L vs.(69.13±1.16) ng/L, t=75.72,-13.51,-23.89,-20.97, P<0.01. Conclusions The airway humidification effect of ambroxol hydrochloride group is better than 0.45%sodium chloride group, it can improve the wetting effect, and better protect the lung tissue, reduce the incidence of lung infection, make it an ideal airway humidification liquid.

Computer-assisted stereotactic transplantation of human retinal pigment epithelium cells in Parkinson disease / 中华器官移植杂志

Objective To study the clinical efficacy of computer-assisted stereotactic brain transplantation of human retinal pigment epithelium (hRPE) cells into the patients with Parkinson disease (PD). Methods Under the guidance of computed X-ray tomography and magnetic resonance imaging image mergence, 4 × 106 hRPE cells were transplanted into the putamen and ventriculus laterlis of 17 cases of PD by stereotactic surgery. The transplantation sites were contralateral to the side of main symptoms and signs. The curative efficacy were observed at the 7th day, 1st month, and 3rd month after the transplantation. Results The contralateral symptoms were ameliorated continuously after the transplantation. Three months after the surgery, the total effective rate of cell transplantation was 88. 2 %, and 82. 4 % of the cases got significant improvement. The cases that got ipsilateral improvement soon after the surgery gave a total effective rate as high as 88. 2 % at the 3rd month during follow-up period, and 64. 7% among these cases improved significantly. Only a minority of cases had transient dizziness and hemiparesis, but the duration was short. Conclusion The therapy, computer-assisted stereotactic transplantation of hRPE ceils in the treatment of PD, is safe and efficient.

Detection of anti-Sm antibodies in SLE serum by immuno-PCR / 中国免疫学杂志

Objective:To apply immuno-PCR for detection of anti-Sm antibodies.Methods: Immuno-PCR was established for anti-Sm antibodies in SLE sera using SaHIgG-DNA probe. The experimental conditions were optomized and methological identifieation indicated obvious in crease(×107 ) in sensitivity compared with that of ELISA. The positive rate of anti-Sm antibodies was 54.9% in SLE sera, and significantly higher than that of ELISA. Intra-and inter-CV were 2.3%～4.8% and 3.7%～6.9% respectively. Immuno-PCR was positively correlated with ELISA( p ＜0.001). Therefore, immuno-PCR for anti-Sm antibodies is specific,sensitive,reproducible and practical clinically.

An evaluation of isoptin for kidney transplant recipients / 中华泌尿外科杂志

Objective To evaluate the use of isoptin in kidney transplants recipients. Methods The graft acute rejection rate,the cyclosporin A daily dose and its trough level and toxicity,the blood pressure and cardiovascular complications,the serum creatinine and blood sugar were studied in cadaveric kidney transplant recipients both with and without the additional use of isoptin. Results With the additional use of isoptin in 44 cadaveric kidney transplant recipients,the acute rejection rate has not increased.After using isoptin for 2 weeks,CsA blood level has been increased 25.5% whereas the CsA dose been cut down 32.6 %.So,drug expense dropped about 30.0% and CsA toxicity (hand tremble,insomnia) was slightly decreased. Conclusions Isoptin does not inecease the graft acute rejection rate yet makes the CsA dose and its toxicity less.