Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective:To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.Methods:A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing.Results:A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-Ⅰ-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+ (Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50(G>A)heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.Conclusion:Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.

OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for patients with intellectual disability (ID) or global developmental delay (GDD). METHODS: 134 individuals with ID or GDD who presented at Chenzhou First People's Hospital between May 2018 and December 2021 were selected as the study subjects. WES was carried out on peripheral blood samples of the patients and their parents, and candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq) and co-segregation analysis. The pathogenicity of the variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: A total of 46 pathogenic single nucleotide variants (SNVs) and small insertion/deletion (InDel) variants, 11 pathogenic genomic copy number variants (CNVs), and 1 uniparental diploidy (UPD) were detected, which yielded an overall detection rate of 43.28% (58/134). The 46 pathogenic SNV/InDel have involved 62 mutation sites in 40 genes, among which MECP2 was the most frequent (n = 4). The 11 pathogenic CNVs have included 10 deletions and 1 duplication, which have ranged from 0.76 to 15.02 Mb. A loss of heterozygosity (LOH) region of approximately 15.62 Mb was detected in 15q11.2q12 region in a patient, which was validated as paternal UPD based on the result of trio-WES. The patient was ultimately diagnosed as Angelman syndrome. CONCLUSION WES can detect not only SNV/InDel, but also CNV and LOH. By integrating family data, WES can accurately determine the origin of the variants and provide a useful tool for uncovering the genetic etiology of patients with ID or GDD.
Humans ; Exome Sequencing ; Intellectual Disability/genetics* ; DNA Copy Number Variations ; Mutation ; Loss of Heterozygosity

Hypertrophic scar is a pathological lesion during the repair of skin wound, involving fibroblast, extracellular matrix and cytokines. The prevention and treatment of hypertrophic scar has been a clinical problem, but its exact mechanism is still unclear. The renin angiotensin system (RAS) in the skin is proved to directly involve in wound healing and hypertrophic scar formation. After local RAS activating during wound repair, the expression of angiotensinogen Ⅱ (Ang Ⅱ) and angiotensin converting enzyme (ACE) have increased. They can lead to pathological scarring by stimulating the proliferation of fibroblasts in the skin, affecting collagen metabolism, promoting skin fibrosis and angiogenesis. This review will focus on the role of Ang Ⅱ and ACE in hypertrophic scar formation, which will help to further understand the mechanism of scar formation, and summarize the potential application of RAS antagonists in hypertrophic scar prevention and treatment, so as to provide a new direction for the prevention and treatment of hypertrophic scar.

Hypertrophic scar is a pathological lesion during the repair of skin wound, involving fibroblast, extracellular matrix and cytokines. The prevention and treatment of hypertrophic scar has been a clinical problem, but its exact mechanism is still unclear. The renin angiotensin system (RAS) in the skin is proved to directly involve in wound healing and hypertrophic scar formation. After local RAS activating during wound repair, the expression of angiotensinogen Ⅱ (Ang Ⅱ) and angiotensin converting enzyme (ACE) have increased. They can lead to pathological scarring by stimulating the proliferation of fibroblasts in the skin, affecting collagen metabolism, promoting skin fibrosis and angiogenesis. This review will focus on the role of Ang Ⅱ and ACE in hypertrophic scar formation, which will help to further understand the mechanism of scar formation, and summarize the potential application of RAS antagonists in hypertrophic scar prevention and treatment, so as to provide a new direction for the prevention and treatment of hypertrophic scar.

Objective To investigate the effect of the angle correction factors of ionization chamber array Matrixx on the dosimetric verification of volumetric modulated arc therapy plan.Methods The Matrixx (IBA)was put in the middle of the MultiCube Phantom. Computed tomography scan was performed and the results were sent to the Raystation treatment planning system(TPS). All data calculated from TPS and actually measured using MatriXX were gained under the following conditions:6 MV,100 MU,28 cm×28 cm radiation field. And the directions of beam were from 0°to 180°with an interval of 5°(except an interval of 1° from 85° to 95°). The angle correction factors(CF)(θ)cor of MatriXX were calculated by the calculated dose values from TPS and the measured values using MatriXX and then mirrored to the opposite side. CF (θ)cor values were compared with CF(θ)def values that were given by manufacturer. The comparison was made by paired t-test. Results CF(θ)cor and CF(θ)def were different, and the difference was significant between 85° and 95°,with a maximum of 7.5%(P<0.05). The CF(θ)cor correction method had a higher gamma pass rate than the CF(θ)def correction method,with a maximum of 17%(P<0.05). Conclusions The ionization chamber array MatriXX has an angular dependence and the angle correction should be performed.The angle correction factors have the individual characteristics and are different in every unit ionization chamber of the MatriXX. Therefore, it is necessary to do angle correction for every unit ionization chamber of the MatriXX and the possible errors caused by various factors should be considered in order to improve the accuracy rate and gamma pass rate of the plan verification.

Objective To evaluate the role of using non-invasive ventilation with bi-level positive airway pressure (BiPAP) in order to reduce the need of re-intubation in pediatric patients with respiratory failure after cardiac surgery. Method From January 2007 to December 2007, 25 patients aged from three months to 11 years with median 2.3 years operated on for cardiac surgery with respiratory insufficiency after extubation and re-intubation indicated were enrolled in this study. They were put on non-invasive nasal (mask) BiPAP ventilation before re-intubation. The arterial blood gas, A-aDO2 and PaO2/FiO2 were measured. In addition, clinical data including heart rate, respiratory rate, and the product of heart rate and systolic pressure were recorded before and after BiPAP. The software SPSSD 13.0 was used to process by ANOVA test for statistical analysis. Meanwhile, the outcome of these patients was analyzed. Results Twenty-five patients with 30 episodes of respiratory insufficiency were treated with BiPAP ventilation with median duration of 1.96 days ranged from 0.03 to 12 days. Of these respiratory failure episodes, 25 ones (83.3%) could be controlled by BiPAP and the needs of re-intubation were avoided. Five episodes of respiratory failure in 4 patients could not be quelled and the endo-tracheal tubes were inserted in these patients. All patients were saved with a median of mechanical ventilation duration of 3.4 days and ICU stay of 10.6 days. No major complications were observed. The heart rate, respiratory rate and the rate-pressure product were decreased significantly one hour after BiPAP (P < 0.05 all). Meanwhile, patients showed rapid improvement of oxygenation. The pH, SpO>2 and PaO2/FiO2 were increased significantly and A-aDO2 was decreased significantly (P < 0.05 all). The PaCO2, was decreased significantly four hours after BiPAP (P < 0.05). Conclusions Non-invasive nasal mask BiPAP can be used safely and effectively in children after cardiac surgery to improve oxygenation/ventilation, decreasing the work of breathing. It may be particularly useful in patients with high risk of re-intubation.