OBJECTIVE: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia. METHODS: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001). RESULTS: For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion. CONCLUSION Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans ; Phenotype ; Codon, Initiator/genetics* ; Female ; Male ; Retrospective Studies ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobin A/genetics* ; Adult ; Mutation

Objective:To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c. 93-21G>A. Methods:A retrospective study was carried out on five individuals identified by the People′s Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the genotypes of five subjects were determined by using PCR combined with reverse dot blotting (RDB), nested PCR, Gap-PCR and Sanger sequencing. This study was approved by Medical Ethics Cornmittee of the People′s Hospital of Yangjiang (Ethics No. 20240001).Results:Among the five individuals, hematological data of one was unavailable, and the remaining four had presented with microcytosis and hypochromia. The results of hemoglobin electrophoresis indicated that all of them had a HbA 2 level of ≥4.7%. Genetic analysis showed that one case had harbored compound heterozygous mutations of ααα anti3.7 triplet and HBB: c. 93-21G>A, one had compound heterozygous mutations of -α 3.7 and HBB: c. 93-21G>A, whilst the remaining three were heterozygous for the HBB: c. 93-21G>A mutation. Conclusion:The hematological phenotype of β-thalassemia carriers ( HBB: c. 93-21G>A) is similar to that of other β + thalassemia heterozygotes with mild β-thalassemia characteristics.

Objective:To compare the technique between concave distraction and convex resection in the treatment of congenital cervicothoracic scoliosis and evaluate its curative effect.Methods:Data of congenital cervicothoracic scoliosis patients from January 2010 to January 2020 were collected, among which 5 were males and 3 were females. The patients' age was 12.5±4.5 years old (range 6-20 years old). One case had C 7 wedged vertebra, 4 cases had T 1 hemivertebra and unbalanced vertebra, 2 cases had T 2 hemivertebra and 1 case had fused facet joint and wedged lamina in T 1. All patients had different degrees of vertebra fusion. Convex resection technique (one stage anterior and posterior combined hemivertebrae resection and annular osteotomy) was used to treat 4 cases before 2015; Concave distraction technique (A combination of anterior and posterior release, intervertebral space and facet space distraction, cage placed and fusion) was used to treat 4 cases after 2015 and 2 of them had 2 segments distraction. Perioperative neurological, vascular and wound related complications were recorded. The main parameters were structure Cobb angle, cephalic and caudal compensatory Cobb angle, mandibular incline, neck tilt, shoulder balance and head shift were measured pre-operation, post-operation and at the last follow-up. Results:All patients' surgeries were completed successfully. In convex resection group, the duration of surgery was 201±100 min (range 113-300 min) per vertebra, the estimated blood loss was 294±153 ml (range 100-450 ml) per vertebra, the hospital stay was 14±3 d (range 11-18 d) and follow up time was 51±11 months (range 36-60 months). In concave distraction group, the duration of surgery was 117±14 min (range 101-129 min) per vertebra, the estimated blood loss was 119±36 ml (range 85-167 ml) per vertebra, hospital stay was 17±3 d (range 14-20 d) and follow up time was 28±21 months (range 12-60 months). Convex resection group had longer operation time and more blood loss per vertebra than concave distraction group. In convex resection group, structural Cobb angle was 45.1°±21.0° pre-operation and 22.7°±15.3° post-operation, which was corrected significantly ( Z=6.53, P=0.038). The correction rate was 54.8%±30.9%. Cephalic compensatory Cobb angle was 22.1°±8.2° pre-operation and 8.2°±5.8° post-operation, which was corrected significantly ( F=6.01, P=0.049). The correction rate was 66.8%±15.1%. Mandible incline was 7.8°±3.1° pre-operation and 3.5°±1.5° post-operation, which was corrected significantly ( F=8.02, P=0.018). The correction rate was 51.0%±29.7%. In concave distraction group, structural Cobb angle was 32.2°±27.2° pre-operation and 16.3°±16.7° post-operation, which was corrected significantly ( F=7.43, P=0.024) . The correction rate was 59.0%±24.7%. Caudal compensatory Cobb angle was 18.9°(17.2°, 32.1°) pre-operation and 9.5°±10.3° post-operation, which was corrected significantly ( Z=6.00, P=0.049). The correction rate was 64.0%±24.1%. Clavicle angle was 3.9°±2.3° pre-operation and 0.3°±0.4° post-operation, which was corrected significantly ( F=1.75, P=0.040). The correction rate was 97.0% (48.5%, 99.8%). There was no significant difference in the correction rate of all radiographic parameters between the two groups. At the last follow-up, the patients' appearance of head, neck and shoulder were improved compared with those before surgery. In convex resection group, 2 patients showed nerve root stimulation symptoms postoperatively on convex side. One patient developed C 5 nerve root palsy which weakened deltoid muscle and the other patients presented with reduced triceps muscle strength. In concave distraction group, one patient developed C 5 nerve root palsy on convex side. All these symptoms recovered by conservative treatment 3 months after operation. Conclusion:It is safe and effective to treat congenital cervicothoracic scoliosis with convex resection technique and concave distraction technique. The concave distraction technique has the advantages of more safety, less operating time, less blood loss and easier to perform and has a wider application prospect.

Objective To study changes in kinematics and joint coordination of the waist and hips during sit-to-stand and stand-to-sit tasks in patients with lumbar disc herniation (LDH). Methods The Vicon 3D motion capture system was used to collect the kinematics data from 20 healthy controls and 20 LDH subjects, and differences in movement patterns of the lumbar spine and hip joints during sitting and standing tasks were compared between two groups through statistical parametric mapping (SPM). Results During sit-to-stand task, the lumbar spine flexion and extension range and hip joint abduction angle of LDH subjects were significantly limited, and the hip flexion angle increased. SPM analysis showed that for both groups at initial stage of sit-to-stand (10%-13%), there was a statistically significant difference in flexion angle of the lumbar spine, and lumbar flexion angle of LDH subjects was significantly reduced, while hip flexion angle at 2%-14% phase was significantly increased. During stand-to-sit phase (65%-69%), LDH subjects showed increased hip abduction angle. Conclusions LDH subjects have limited lumbar flexion and hip abduction functions during sitting and standing, and they need to be compensated with increased hip flexion activities to complete functional tasks. In clinical evaluation, changes in motor function of the spine and hips should be focused on.

Objective:To explore the safety, feasibility, and short-term outcome ofdistraction on the concave side in the treatment of patients with congenital cervical scoliosis.Methods:Between August 2015 and December 2019, 11 patients with congenital cervical scoliosis underwent distraction technique on concave side, among which 5 were males and 6 were females. Age was 9.9±3.1 years old (range 6-16 years old). The primary cervical spine deformity was hemi-vertebra with different degrees of vertebra fusion. 7 cases were in C 3, 3 cases were in C 4 and 1 case was in C 5. Anterior-posterior combined approach was used. Firstly, discectomy and soft tissue release on concave side were made through anterior approach, then distraction on concave side and fusion with internal fixation were made through posterior approach and at last fixation and fusion in anterior approach were made. In this study we measured structure Cobb angle, compensatory Cobb angle, mandibular incline, shoulder balance and the angle difference of trapezius muscle preoperation and post operation. Perioperative neurological,vascular and wound related complicationswere recorded. Results:All patients' surgeries were completed successfully. Eight patients received single site distraction and 3 patients received distraction in two sites. The duration of surgery was 466±141 min (range 150-659 min), the estimated blood losswas 387±191 ml (range 100-660 ml) and follow up time was 12.2±9.5 months (range 3-24 months). Structural Cobb angle was 28.9°±13.1° pre-operation and 7.4°(3.0°, 27.7°) post-operation at 3 months, which was corrected significantly ( Z=-2.934, P=0.003). The correction rate was 58.1±26.1% (range 18.8%-97.6%). Structural Cobb angle was 13.2°±12.3°at 1 year post operation and had no significant difference compared with 3 months post operation ( t=1.960, P=0.107). Compensatory Cobb angle was 18.3°±6.1° pre-operation and 9.4°±7.3° post-operation at 3 months, which was corrected significantly ( t= 5.071, P<0.001) and the correction rate was 51.3%±28.3% (range 2.4%-94.7%). Compensatory Cobb angle was 8.9°±7.7° at 1 year follow up and was corrected significantly ( t=5.253, P=0.003) compared to 3 months after surgery and the correction rate was 61.4%±26.9%. Two patients developed C 5 nerve root dysfunction and 1 patient developed numbness on the index and middle fingers after surgery. All of them occurred on the concave side and recovered by conservative treatment. Conclusion:The application of distraction on the concave side in the treatment of congenitalcervical scoliosis is with good feasibility and clinical safety. Short-term follow-up showed excellent resultswith a promising future.

Objective     To explore the treatment method of congenital heart disease (CHD) with pulmonary artery hypertension (PAH) in infants with Down syndrome (DS). Methods     The clinical data of 60 CHD patients with PAH from March 2015 to August 2016 in our hospital were retrospectively analyzed. There were 30 infants with DS classified as a DS group (trial group, 17 males and 13 females with a mean age of 1.15±0.25 years) and the other 30 patients without DS were classified as a control group (20 males and 10 females with a mean age of 1.24±0.30 years). All the patients underwent surgical treatment and fasudil combined with sildenafil were used to prevent pulmonary hypertension crisis postoperatively. Results     There was no significant difference in cardiopulmonary bypass time, aortic cross-clamping time, modified ultrafiltration time and the incidence of postoperative respiratory complications between the two groups. The pulmonary systolic blood pressure significantly decreased at 24 h after operation in the two groups (both P<0.05). The arterial oxygen pressure and oxygenation index of the trial group were lower than those of the control group at 6 h after operation (both P<0.05). The mechanical ventilation time and intensive care time of the trial group were significantly longer than those of the control group (P=0.007 and P=0.000, respectively). There were no reoperations or early death. Conclusion     The effects of surgical repair of CHD with PAH in infants with DS are satisfactory by grasping the indication, protecting lung function and controlling PAH in the early postoperative period, although there is a high incidence of pulmonary complications.

Objective:To establish a method to determine the contents of pantoprazole sodium bioadhesive tablets. Methods:An HPLC method was adopted. The determination was performed on a HYPERSIL ODS-2 (150 mm × 4. 6 mm, 5μm) column with mobile phase consisting of 0. 01 mol·L-1 dipotassium phosphate solution –methanol (60 ∶40) at the flow rate of 1. 0 ml·min-1 . The de-tection wavelength was set at 289 nm, the column temperature was maintained at 30 ℃ and the sample size was 20 μl. Results:The linear range of pantoprazole sodium was 1. 28-20. 60μg·ml-1,(r=0. 999 8) . The average recovery was 99. 52%(RSD=1. 43%, n=9). Conclusion:The method is simple, accurate and reliable, and can be used for determining the content of pantoprazole sodium bioadhesive tablets.

Objective To investigate the clinical features,diagnosis and treatment of von Hippel-Lindau (VHL) disease in order to improve the understanding of this disease.Methods The clinical features,imaging features,pathological data and treatments of 7 patients in 3 families admitted to our hospital from December 2005 to August 2017 were retrospectively analyzed.Results Ten oprations were performed under the guidance of neural navigation system for the 7 patients.There were 4 enjoying total resection at once;one achieved primary surgical resection of the primary lesions,and residual lesions grew up and the patient accepted surgical treatment at the 7th and 9th years;one patient achieved primary surgical resection of the primary lesion,the residual lesions grew up and surgical treatment was performed 8 months later;another one underwent surgical resection of the primary lesion,and the residual lesion was treated with gamma knife therapy 3 months after surgery.The pathological results of the 10 operations of the 7 patients were proved to be hemangioblastoma.No operative deaths were noted.The symptoms of these patients when they were discharged from the hospital were significantly better than those when they were on admission.The 10 patients were followed up so far,no symptoms of neurological impairment were noted,and they could work and live a normal life.Conclusions Surgical treatment is still the preferred method of VHL,and radiotherapy is effective for small lesions.

Objective To understand the prevalence of hypertension and selenium intake of the residents in rural areas of Jilin province,and to discuss the relationship between selenium intake and the prevalence of hypertension, and to provide reference for prevention and therapy of hypertension.Methods A total of 1 380 inhabitants in rural areas of Jilin province were selected by way of cluster sampling to conduct dietary investigation,physical and blood examination.The selenium intake was categorized into three groups according to tritiles after adjusted by energy, and the relative risk for incidence of hypertension in each group was estimate by using the Logistic regression model with the first group as the reference.Results The prevalence of hypertension in the study area was 37.4%.The average for selenium intake was 35.908μg·d-1 and was lower than the standard level of selenium recommended by RNI.After adjustment for other risk factors,the relative risk for incidence of hypertension for different selenium intakes in the men was 1.00,0.471(95%CI 0.290-0.765),and 0.596(95%CI 0.373-0.951),the P values were 0.002 and 0.030. There was no significant relationship between selenium intake and the incidence of hypertension in the women,and there was also no significant relationship between Han people and Korean people in China.Conclusion The selenium intake is the influencing factor affecting the incidence of hypertension of the male rural residents in Jilin province,which reminds that the increasing selenium intake is helpful for the prevention of male hypertension.

Based on the follow-up investigation made on the employment of university graduates in pharmacy,we analyzed the situation of their jobs,salary and their attitude towards pharmacy and suggested some mothods to promote the graduates employment and give the students the career guidance.Up to now,492 students have graduated,the first employment rate was 78%,and last employment rate was 100%.