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Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.
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Objective:To discuss the effect of bipolar radio frequency (RF) in combination with small incision on lower facial (cheek, chin and neck) shaping and rejuvenation.Methods:From August 2019 to June 2020, 26 patients (aged 35-60 years, with mean 45 years) required for facial rejuvenation and received the fine liposuction in the lower cheek, mandibular margin and submental neck area in Beijing Huangsi Plastic Surgery Hospital. With the help of bipolar RF device - EMBRACE RF (diamond carving), the facetite face and hand radiofrequency were adopted for the subcutaneous tissue to tighten the skin. A concealed small incision was made from the front of the ear to the posterior ear. The superficial layer of the superficial muscular aponeuritic system (SMAS) was stripped, folded, tightened and suspended. The excessive skin was removed while reducing multilayer tension. The incision was cosmetically sutured.Results:All 26 patients had their wounds primary healing, with no complications such as skin necrosis and sensory disorder. All the 24 patients were followed up for 6-12 months. Their scars were concealed and tiny, the skin was tight, the lifting effect was obvious, and the pouch of mouth corners disappeared or alleviated. The contour of the mandibular margin was defined and the mental cervical angle was clear. The shape of the neck was slender and the fat chin was significantly improved. The effect of facial rejuvenation was distinct. Two patients felt it worked but did not achieve the expected results. They were satisfactory after giving the second surgery 6 months later. The satisfactory rate of the first surgery was 92.3% in 24 patients.Conclusions:Bipolar RF in combination with small incision lifting surgery is effective in lower facial (cheek, chin and neck) shaping and rejuvenation. The trauma is little and the wound is recovered fast. The scar is concealed and tiny. It is worthy of clinical application.
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Objective@#To explore the genetic basis for a patient with autism.@*Methods@#High-throughput sequencing was carried out to detect copy number variations in the patient.@*Results@#DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.@*Conclusion@#Partial deletion of the NRXN1 gene may underlie the disease in this patient.
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OBJECTIVE@#To explore the genetic basis for a patient with autism.@*METHODS@#High-throughput sequencing was carried out to detect copy number variations in the patient.@*RESULTS@#DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.@*CONCLUSION@#Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Subject(s)
Humans , Male , Autistic Disorder , Genetics , Cell Adhesion Molecules, Neuronal , Genetics , DNA Copy Number Variations , Gene Deletion , Nerve Tissue Proteins , GeneticsABSTRACT
Objective To establish the measuring methods and relevant influencing factors of liver zone speed index (ZSI) by sound velocity tissue quantification (SVQ) technology in healthy subjects.Methods Liver ZSI were obtained in 49 healthy volunteers using SVQ technique with Zonare Z.one Ultra system.In the first 15 subjects,ZSI were acquired at four positions (superficial and deep parts of right lobe,superficial and deep parts of left lobe).Then the achievement rate in different position of liver was calculated to select the suitable measuring position.The reproducibility was analyzed with intra-group correlation coefficient(ICC).The last 34 healthy subjects received ZSI measurements in the appropriate position only.The reference value of ZSI was calculated using x-± 1.96 s.Results It was stable to measure values of ZSI with SVQ technique.The achievement rate was higher in right lobe with being 1 cm below the liver capsule for the optimal measuring point.There was no significant difference of ZSI value between male and female groups.There was no significant correlation between age and values of ZSI while a significant negative correlation was found between body mass index (BMI) and values of ZSI (r =-0.63,P =0.000).The reference value of body mass index between 18.5-23.9 kg/m2 was 5.67-36.29 m/s.Conclusions ZSI values of liver measured with SVQ technique shows a good stability and may be a new promising method for assessment of liver elasticity quantitatively.
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Objective To observe the efficacy and safety of compound Kaliziran tincture combined with glucocorticoid on local vitiligo. Methods All patients were randomly recruited into a treatment group and a control group with 30 cases in each group. The treatment group was treated with compound Kaliziran tincture, 3 to 4 times daily, and halometasone / triclosan (sicorten plus), twice daily. While the control group was treated with compound kaliziran tincture exclusively, 3 to 4 times daily. The therapeutic courses for both groups were 5 months. Results The cure rate and the total effective value of the treatment group were 46.66% and 100% respecitvely.Condusion Combined treatment of compound Kaliziran tincture with glucocorticoid has significant efficacy on vitiligo limitations.