Objective To explore the carrier rate of thalassemia in Laibin city,Guangxi Province,and provide a theoretical basis for the prevention and control of thalassemia.Methods From January 2020 to December 2021,88 152 patients were screened for thalassemia in the outpatient department of the Women's and Children's Hospital of 4 counties,1 city and 1 district in Laibin by blood cell detection and hemoglobin electrophoresis.The common and rare genes in initially screened positive individuals were detected by gap polymerase chain reaction(Gap-PCR)and reverse dot blot(RBD),and the results were conducted by statistical analysis.Results ① There were 22 553 positive cases in the preliminary screening and 8 327 positive cases received the diagnosis of thalassemia gene.A total of 4 944 thalassemia carriers of thalassemia genes were detected,deducing that the total thalassemia carrier rate in the population of childbearing age in this region was 15.19%,including 3 200 cases of α-thalassemia carriers(64.73%),1 424 cases of β-thalassemia carriers(28.80%),and 320 cases of were carriers α-thalassemia combined with β-thalassemia(6.47%).② There were 3 168 cases of common thalassemia(99.00%)and 32 cases of rare thalassemia(1.00%)among α-thalassemia gene carriers.A total of 13 mutant genes and 34 genotypes were detected,and genotype SEA/αα was the comes first.③ Among the β-thalassemia gene carriers,there were 1 411 cases of(99.09%)common thalassemia and 13 cases(0.91%)of rare thalassemia.A total of 19 mutant genes and 25 genotypes were detected,with CD41-42(-CTTT)being the most common.④ A total of 53 different genotypes were detected in the carriers of α-thalassemia combined with β-thalassemia,and the top genotype was--SEA/αα βCD41-42M/βN.⑤ The carrier rates of Yao and Han nationality were comparable,and the differences were not significant(χ2=0.300,P=0.584).The differences in carrying rates between Zhuang and Yao(χ2=23.66,P＜0.001),and between Zhuang and Han(χ2=116.98,P＜0.001)were significant.⑥ The carrier rate in Xiangzhou County was the highest(20.04%),while the carrier rate in Heshan City was the lowest(12.38%).⑦ The carrier rate of females was higher than that of males,and the difference was significant(χ2=182.03,P＜0.001).Conclusion The variants genotypes of thalassemia in Laibin were complex.This study was the first to investigate the carrier rate and gene mutation spectrum of thalassemia in Laibin Area,which provides valuable baseline data for genetic counseling and prenatal diagnosis.

Objective:To study the clinical and genetic characteristics of familial paroxysmal exercise-induced dyskinesia with Parkinson-like manifestations in the elderly.Methods:Clinical data of 9 family members were analyzed, including 2 patients(both received treatment)consenting to appropriate therapy and prediction protocols.DNA was extracted from peripheral blood samples, and then second-generation sequencing mutation screening.Results:The tremor of two probands in the family was completely brought under control by oxcarbazepine treatment.In 5 family members, a heterozygous mutation of base G>C in exon 2 c. G366C: P.QCon122H at position 29824741 of the PRRT2 gene was found, resulting in the mutation of the amino acid at 122 from glutamine to histidine, which was predicted by SIFT and M-CAP to be harmful.Sanger sequencing of pedigree samples showed that the sisters, brothers and nephews of the proband were heterozygous and their nieces were of the wild type.Conclusions:Q122 of PRRT2 protein can cause the Parkinson-like limb tremor phenotype, and antiepileptic drugs are also effective for paroxysmal exercise-induced dyskinesia in the elderly.

Objective: To study the anatomical features of the distal humerus in Chinese healthy adults. Methods: A total of 121 cases of normal elbow joint CT images were selected from the picture archiving and communication system (PACS), and reconstructed and measured on the AW4.5 workstation. Coronal plane and horizontal plane were determined by flexion-extension (FE) axis and humeral shaft, while the sagittal plane was perpendicular to the FE axis. The angle between the axis of humerus medullary cavity and the FE axis of elbow (H-FE angle) was measured on the coronal plane. The capitellar height (CH), lateral trochlear height (LTH), trochlear height (TH) and medial trochlear height (MTH) were measured on four different sagittal planes. The capitellar width (CW), capitellar depth (CD), anterior lateral trochlear width (ALTW), posterior lateral trochlear width (PLTW), trochlear width (TW), anterior medial trochlear width (AMTW), posterior medial trochlear width (PMTW), trochlear depth (TD), anterior lateral trochlear depth (ALTD), posterior lateral trochlear depth (PLTD), anterior medial trochlear depth (AMTD), posterior medial trochlear depth (PMTD), and distal humeral width (W) were measured on the horizontal plane. The gender differences in measured parameters, correlations between data, and differences in H-FE angle from 90° were analyzed. Results: In male, CH was 21.5± 1.3 mm, CW 17.5±1.1 mm, CD 10.8±0.9 mm, TW 25.1±2.2 mm, TH 17.3±1.5 mm, TD 17.5±1.4 mm, ALTW 7.7±1.2 mm, PLTW 12.5±1.6 mm, AMTW 12.4±1.6 mm, PMTW 9.8±2.0 mm, ALTD 10.0±0.8 mm, PLTD 16.3±1.4 mm, AMTD 12.9±1.4 mm, PMTD 13.2±1.4 mm, LTH 20.6±1.3 mm, MTH 25.0±2.4 mm, W 42.6±2.5 mm. The above parameters in female was 18.7±1.1 mm, 15.3±1.1 mm, 9.5±0.6 mm, 21.7±1.5 mm, 15.4±1.7 mm, 15.6±1.5 mm, 6.8±1.3 mm, 10.7±1.4 mm, 10.6±1.4 mm, 8.5±1.4 mm, 8.9±0.8 mm, 14.5±1.1 mm, 11.4±1.1 mm, 11.5±1.0 mm, 18.1±1.4 mm, 21.6±1.4 mm and 37.0±1.8 mm, respectively. All the above anatomical parameters in men were larger than those in women with statistically significant difference (P<0.05). However, the H-FE angle (male: 87.4°±3.5°, female 87.8°±3.3°), CW/CH (male: 0.8±0.1, female: 0.8±0.1), TW/CW (male: 1.4±0.2, female: 1.4±0.1), MTH/LTH (male: 1.2±0.1, female: 1.2±0.1), AMTW/TW (male: 0.5±0.1, female: 0.5±0.1), PMTW/TW (male: 0.4±0.1, female: 0.4±0.1), ALTW/TW (male: 0.3±0.0, female: 0.3±0.1), PLTW/TW (male: 0.5±0.1, female: 0.5±0.1) were not statistically different between male and female groups (P>0.05). All measurements except for the H-FE angle had a positive correlation with the articular width (0.335≤r≤0.928, P<0.05). The difference between the angle of the H-FE axis (87.6°±3.4°) and 90° was statistically significant (t=-7.287, P<0.05). Conclusion The size of the distal humerus in male is larger than that in female without difference in shape. Distal humerus width can be used as an indicator to measure the size of the distal humerus. The humeral shaft is more biased toward the radial side.

Drosophila neural development undergoes extensive chromatin remodeling and precise epigenetic regulation. However, the roles of chromatin remodeling in establishment and maintenance of cell identity during cell fate transition remain enigmatic. Here, we compared the changes in gene expression, as well as the dynamics of nucleosome positioning and key histone modifications between the four major neural cell types during Drosophila neural development. We find that the neural progenitors can be separated from the terminally differentiated cells based on their gene expression profiles, whereas nucleosome distribution in the flanking regions of transcription start sites fails to identify the relationships between the progenitors and the differentiated cells. H3K27me3 signal in promoters and enhancers can not only distinguish the progenitors from the differentiated cells but also identify the differentiation path of the neural stem cells (NSCs) to the intermediate progenitor cells to the glial cells. In contrast, H3K9ac signal fails to identify the differentiation path, although it activates distinct sets of genes with neuron-specific and glia-related functions during the differentiation of the NSCs into neurons and glia, respectively. Together, our study provides novel insights into the crucial roles of chromatin remodeling in determining cell type during Drosophila neural development.

Objective:To measure the morphologic data of Chinese temporomandibular joint (TMJ) with computed tomography (CT) reconstruction technology,and to clarify the safe area for the fixation of Chinese temporomandibular joint prosthesis.Methods:A total of 100 adult skulls were scanned by CT and reconstructed.The width,thickness and angle h1,h2,h3,h4,d1,d2,d3,d4,ab,bc,cd,ad,α and β of zygomatic arch,the width and height BD and h of articular fossa and the width,thickness and angle S,h5,h6,h7,l1,l2,l3,l4,l5,m1,m2,m3,m4,m5 and γ of mandible in the fixed area of the TMJ prosthesis were measured;all the measurement indexes were divided into left and right groups by direction,and SPSS 19.0 software was used for the comparion of the measurement between left and right groups.Results:There were no statistical differences in the measurement index values of h1,h2,h3,h4,d1,d2,d3,d4,ab,bc,cd,ad,α,β,BD,h,S,h5,h6,h7,l1,l2,l3,l4,l5,m1,m2,m3,m4,m5 and γ in zygomatic arch,articular fossa and mandible in the fixed area of the TMJ prosthesis between left and right groups (P＞0.05);the width of h2 was longer than that of h3 in zygomatic arch (P=0.048);the thickness of d3 was thicker than that of d4 (P＜0.01).Conclusion:The measurement data of TMJ fixed area is obtained with three-dimensional CT images.

Objective: This study aimed to measure the morphological parameters of the internal acoustic meatus(IAM) and its adjacent structures using temporal-bone thin-section CT(computed tomography). Methods: CT images were obtained from 50 Chinese adult patients (25 males and 25 females, 100 sides) which had no visible lesion in the petrous part of the temporal bone and inner ear, the morphological parameters of all inner ear parts were sectionally measured on the specified plane using SPSS 22.0 software for statistical analysis. Results: The integral morphological characteristics of the IAM were observed. These results revealed that anterior-posterior diameter of the internal acoustic poer(IAP)(CD) was (6.93±1.85)mm, the superior-inferior diameter of the IAP(EF) was (4.40±0.86)mm, the length of the IAM(AB) was (9.30±1.60)mm, the superior-inferior diameter of the IAM(the intersection of inner 1/3 section and middle 1/3 section) was (4.13±0.83)mm, the superior-inferior diameter of the IAM(the intersection of middle 1/3 section and outer 1/3 section) was (4.61±1.02)mm, the anterior-posterior diameter of the IAM(the intersection of inner 1/3 section and middle 1/3 section) was (6.62±1.92)mm, the anterior-posterior diameter of the IAM(the intersection of middle 1/3 section and outer 1/3 section) was (6.28±1.65)mm, the depth of transverse crest (superior wall) was (3.10±0.75)mm, the depth of transverse crest (interior wall)the was (1.46±0.59)mm, the distance from transverse crest vertex A to the superior wall of the IAM was (2.05±0.42)mm, the distance from transverse crest vertex A to the interior wall of the IAM was (2.93±0.41)mm, the thickness of the superior bone wall of the IAM (the intersection of inner 1/3 section and middle 1/3 section) was (4.45±1.34)mm, the thickness of the superior bone wall of the IAM (the intersection of middle 1/3 section and outer 1/3 section) was (4.32±1.12)mm, the thickness of the superior bone wall of the IAM (the intersection of outer 1/3 section and transverse crest vertex) was (4.37±1.28)mm, and the appearance ratio of the cells in the whole IAM superior wall was 32%.The whole IAM assumed the shape of short cylinder, inclining about 1 cm outward, with the upper-lower diameter and anterior-posterior diameter about 5 mm. Conclusion It is necessary for carrying out preoperative the temporal-bone thin-section CT to obtain the morphological parameters of the IAM, determine its basic morphology, and provide references to avoid damaging the other important structures during IAM surgeries.

Objective:To measure the safe range from the foramen rotundum to the siphon of internal carotid artery using three-dimensional reconstruction technique, and to provide guidance for operation through pterygopalatine fossa.Methods:The skulls of 121 volunteers were scanned to get the final results with thin-section computed tomographic images.The position of the siphon of internal carotid artery (point A)and foramen rotundum (pointB)were ascertained.Three-dimensional reconstruction technique was used to build a coordinate system paralleled to the frankfort horizontal plane and the nasal septum plane.The coordinate system took point A as the coordinate origin.Point C and point D were the projections of point A in two planes parallel with frankfort horizontal plane and nasal septum plane which included point B.The distances of AC,AB,and BC were measured. The angles of the line went through A and B to the three planes were also measured.Results:The distance of AC was measured as 13.22 (3.79)mm (range,8.33 - 105.67 mm;95%CI:8.55 - 21.39 mm).The angle to the sagittal plane was measured as 33.54 (9.23)° (range,5.38- 66.58°;95%CI:30.88 - 34.20°). The angle to the coronal plane was measured as 53.17 (10.48)°(range,5.60-75.02°;95%CI:51.29-55.06°).The angle to the horizontal plane was measured as 9.43 (12.91 ) mm (range,- 28.44 - 82.22;95% CI:7.11 - 11.76 ). Conclusion:The safety distance from foramen rotundum to the siphon of internal carotid artery in the operation through pterygopalatine fossa (PPF) under nasoendoscope is obtained by thin-section computed tomographic images.

OBJECTIVETo investigate the hematological and molecular characteristics of hemoglobin Q-Thailand in Guangxi, so as to provide reference data for hemoglobinopathy screening.

METHODSA total of 51088 samples were screened by capillary electrophoresis. Samples suspected with Hb Q-Thailand were processed with blood cell count and DNA sequencing. Gap-PCR and PCR-reverse dot blotting were used for the detection of common mutations of alpha and beta thalassemia.

RESULTSThe carrier rate of Hb Q-Thailand in Guangxi was 0.06%. The hematological phenotype index(HGB, MCV, MCH, Hb Q-Thailand, Hb A2, Hb QA2) of 28 Hb Q-Thailand heterozygous samples were (125.60±22.30) g/L, (78.22±4.81) fl, (25.79±2.14) pg, (27.37±2.72)%, (1.89±0.22)%, (0.69±0.16)%, respectively, and of 2 Hb Q-Thailand heterozygous combined with beta-thalassemia samples were (125.00±18.39) g/L, (69.65±5.02) fl, (22.00±0.0) pg, (14.80±0.71)%, (4.45±0.07)%, (0.95±0.71)%, respectively. A statistical difference was found in hematological phenotype index between the two groups except HGB (P<0.05).

CONCLUSIONIn Guangxi, the detected Hb Q-Thailands were mainly heterozygous. Part of Hb Q-Thailand heterozygotes had normal red blood cell parameters, but can still be detected by hemoglobin electrophoresis. When combined with other types of thalassemia, these heterozygotes may still exhibit reduced MCV and MCH or various degrees of anemia.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Base Sequence ; Child ; Child, Preschool ; China ; Electrophoresis, Capillary ; Female ; Genotype ; Hemoglobins, Abnormal ; analysis ; genetics ; metabolism ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Phenotype ; Thalassemia ; blood ; genetics ; Young Adult

OBJECTIVE: To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province. METHOD: Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. RESULT Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Heterozygote ; Homozygote ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics ; Sulfate Transporters

Objective To measure the morphological parameters of cervical endplate of Chinese by using computed tomography (CT)scans,and to provide an accurate morphometric basis for designing and developing the cervical disc prostheses.Methods 80 healthy subjects were scanned by CT.The parameters of each cervical vertebra from C3 to C7 were measured by CT scans including upper anteroposterior length (APLu),upper center mediolateral length (CMLu),lower anteroposterior length (APLl) and lower center mediolateral length (CMLl).These parameters were compared between genders and among different vertebral levels.Results The values of APLu, CMLu,APLl and CMLl were increased with the decreasing of cervical segment (P APLu = 0.023,P CMLu = 0.007, P APLl =0.035,P CMLl < 0.001).There was statistically significant difference in morphological parameters between genders (P < 0.05).Compared with the reported data of other different populations,the statistically significant difference in morphological parameters also existed in the study.Conclusion The study provides an accurate morphological basis for designing the suitable artificial cervical disc for Chinese population.