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BACKGROUND: To analyze the genotype distribution and frequency of hearing loss genes in newborn population and evaluate the clinical value of genetic screening policy in China. METHODS: Genetic screening for hearing loss was offered to 84,029 neonates between March 2019 and December 2021, of whom 77,647 newborns accepted the screening program with one-year follow-up. The genotyping of 15 hot spot variants in GJB2, GJB3, SLC26A4, and MT-RNR1 was performed on microarray platform. RESULTS: A total of 3.05% (2369/77,647) newborns carried at least one genetic hearing loss-associated variant, indicated for early preventive management. The carrier frequency of GJB2 gene was the highest, at 1.48% (1147/77,647), followed by SLC26A4 gene at 1.07% (831/77,647), and GJB3 gene at 0.23% (181/77,647). GJB2 c.235delC variant and SLC26A4 IVS7-2A>G variant were the most common allelic variants with allele frequency of 0.6304% (979/155,294) and 0.3992% (620/155,294), respectively. 10 children are identified as homozygous or compound heterozygous for pathogenic variants (4 in GJB2, 6 in SLC26A4), and 7 of these infants had passed the hearing screening. Following up of the genetically screened newborns revealed that genetic screening detected more hearing-impaired infants than hearing screening alone. Genetic screening helped identify the infants who had passed the initial hearing screening, and reduced time for diagnosis and intervention of hearing aid. In addition, we identified 234 newborns (0.30%, 234/77,647) susceptible to preventable aminoglycoside antibiotic ototoxicity undetectable by hearing screening. CONCLUSION: We performed the largest-scale neonatal carrier screening for hearing loss genes in Southeast China. Our results indicated that genetic screening is an important complementation to conventional hearing screening. Our practice and experience may facilitate the application and development of neonatal genetic screening policy in mainland China.
Subject(s)
Deafness , Hearing Loss , Infant , Child , Infant, Newborn , Humans , Follow-Up Studies , Connexins/genetics , Connexin 26/genetics , Mutation , Genetic Testing/methods , Hearing Loss/diagnosis , Hearing Loss/genetics , Deafness/geneticsABSTRACT
This paper is concerned with the problem of robust filter design for a class of discrete-time networked nonlinear systems. The Takagi-Sugeno fuzzy model is employed to represent the underlying nonlinear dynamics. A multi-channel communication scheme that involves a channel switching phenomenon described by a Markov chain is proposed for data transmission. Two typical communication imperfections, network-induced time-varying delays and packet dropouts are considered in each channel. The objective of this paper is to design an admissible filter such that the filter error system is stochastically stable and ensures a prescribed disturbance attenuation level bound. Based on the Lyapunov-Krasovskii functional method and matrix inequality techniques, sufficient conditions on the existence of the desired filter are obtained. A numerical example is provided to illustrate the effectiveness of the proposed design approach.
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BACKGROUND:Gastric cancer stem cels involved in the neoadjuvant chemotherapy and conventional treatment are closely associated with relapse of gastric cancer. However, this conclusion has not yet been confirmed. OBJECTIVE:To investigate the effects of gastric cancer stem cels in tumor invasion and metastasis and its effect on angiogenesis ability. METHODS:We prepared nude mouse models of gastric cancer to isolate and culture gastric cancer stem cels. Harvested gastric cancer stem cels were detected in cel scratch test, ring test, inhibition rate test, cel migration test and tumorigenicity test. RESULTS AND CONCLUSION:After 7 days of culture, the cels exhibited adherent growth but a lack of regularity that most cels were in a tadpole shape. In the cel scratch test, the scratch width was significantly different at 0 and 24 hours (P < 0.05). Under an inverted microscope, the cels were found to form a ring in the ring test. The 50% inhibiting concentration of gastric cancer stem cels induced by oxaliplatin was significantly lower than that induced by 5-fluorouracil (P < 0.05). The number of cels passing through the basilar membrane was significantly increased after cel migration (P < 0.05). After implantation of gastric cancer stem cels, the gastric tissue quality was significantly higher than that in normal nude mice of gastric cancer (P < 0.05). These findings indicate that gastric cancer stem cels responsible for tumor invasion and migration have stronger angiogenesis ability.
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Objective:To develop a perioral force measurement system for the infants with cleft lip and palate.Methods:The peri-oral force measurement system of infant with cleft lip and palate is composed of hardware and software.The sensor is metal cantilever. The measurement ranges are 0 -20 and 0 -1 00 g/cm2 ,and the precision is 0.1 g/cm2 .The system was used in 4 cases of infants with unilateral cleft lip and palate before and after cheiloplasty.The results were analyzed by SPSS 1 9.0 software.Results:Before cheilo-plasty the perioral force of labial frenum area was (1 .79 ±0.94)g/cm2 ,that of angulus oris area of normal side and cleft side was (5. 41 ±1 .01 )g/cm2 and (3.1 2 ±1 .55)g/cm2 (P <0.05);after cheiloplasty:the perioral force of labial frenum area was (1 2.73 ±3. 51 )g/cm2 ,that of angulus oris area of normal side and cleft side was (7.64 ±1 .64)g/cm2 and (7.27 ±1 .89)g/cm2 .Conclusion:The perioral force measurement system can be used to measure the perioral force of the infants with cleft lip and palate.
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Objective To discuss the application of transanal placement of ileus tube in treatment of colonic obstruction in left colorectal cancer.Methods Thirty-two patients with left malignant colorectal obstruction were divided into ordinary colonoscope group (16 cases) and superslim endoscope group (16 cases) by random digits table.The catheter success rate,catheter operating time and exposure to X-ray time was compared between two groups.Results Fifteen cases were successful and 1 case was failed in ordinary colonoscope group.Thirteen cases were successful and 3 cases were failed in superslim endoscope group.There was no significant difference in the catheter success rate between two groups (x2 =1.143,P =0.285).The catheter operating time was (42 + 15),(20 +6) min in ordinary colonoscope group and superslim endoscope group,and there was significant difference between two groups (t =3.895,P =0.005).The exposure to X-ray time was (20 + 12),(5 + 2) min,and there was significant difference between two groups (t =-3.596,P =0.007).Conclusion Transanal placement of ileus tube is more successful and convenient by superslim endoscope combined with anesthesia than by ordinary colonoscope.
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ObjectiveTo explore the expression of MRP1 and CD34 in colorectal carcinoma tissue and the relationship with clinicopathological factors.MethodsImmunohistochemical streptavidin-perosidase method was used to examine the expression of MRP1 and CD34 in 53 cases with colorectal carcinoma and normal colorectal tissue.The correlation between the levels of MRP1and CD34 expression and clinicopathological factors were analyzed.ResultsThe positive expression rates of MRP1 in the carcinoma group and normal colorectal tissue group were 49.1％ and 15.1％ respectively,and there was a significant difference of the positive expression between the two groups( x2 =14.029,P ＜ 0.01 ).The expression of MRP1 had no correlation with the degree of differentiation,the depth of invasion,the metastasis of lymph node and all the other clinicopathological factors ( P ＞ 0.05 ).CD34 value in the carcinoma group and normal colorectal tissue group were ( 35.63 ± 12.23 ) MVD/HP and ( 6.12 ± 0.97) MVD/HP,respectively,and there was a significant difference between the two groups (t =17.565,P ＜ 0.01 ).CD34 was not correlated with age,sex,tumor size,localization of the primary tumor ( P ＞ 0.05 ),but correlated with Dukes staging,lymph node metastasis,differentiation of the tumor,depth of invasion( all P ＜ 0.05).ConclusionThe overexpression of MRP1 and CD34 protein may involve in colorectal carcinogenesis;MRP1 may involve in the primary multidrug resistance in colorectal carcinoma.; CD34 may involve in the colorectal carcinoma invasion and metastasis.Investigating the expression of MRP1 and CD34 in colorectal carcinoma simultaneously can provide new referential indexes for the treatment and prognosis of colorectal carcinoma.
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Objective: To evaluate the corrosion resistance of Ni-Cr alloy with different coatings in neutral and acid saliva by electrochemistry method. Methods: Measured the self-corrosion potential (Ecorr) and polarization resistance(Rp) curves of Ni-Cr alloy models with different coatings in neutral and acid artificial salivas. Results: The Ecorr of the Ni-Cr alloys all showed positive values, the electrochemistry corrosion and galvanic corrosion were not detected. Conclusion: Ni-Cr alloy with titanium nitride coating, gold electroplating coating, gold-paste layer and gold-porcelain blended layer have both anti-corrosion and esthetical function without changing its own property.
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Objective: To find out the infinity optical thickness of SY-1 silicone elastomers when color difference(△E) is equal to 1.5 . Methods: Silicone elastomer samples with thickness from 0.5 mm to 10 mm of SY-1 silicone elastomer were measured by CIE-1976-L *a *b * relative to CIE source against a white and a black background by using Minolta colorimeter . Color difference was calculated as △E=[(△L *) 2+( △a *) 2+(△b *) 2] 1/2 . The infinity optical thickness of SY-1 silicone elastomer when △E=1.5 was calculated by regression formulation. Result: When △E was equal to 1.5, the infinity optical thickness of SY-1 silicone elastomer was 7.60 mm. Conclusion: In order to get ideal effect the supports should be treated with colorant when the thickness of silicone elastomer covering the surface of supports in maxillofacial prostheses is thinner than 7.60 mm.
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Objactive:To study the color changes of SY-1 silicone elastomer before and after polymerization.Methods:L*a*b*color parameters of 10 samples of SY-1 silicone elastomer were measured with Minolta chroma-ticity instrument(CS-321) before and after polymerization.The color difference(△E) between precure and post-cure was calculated as△E =[(△L)2+(△a)2+(△b)2]1/2.Results:After polymerization L*and a*valueswere increased(P
