Objective: To design HBV DNA proficiency testing and system comparison samples with different concentration gradients, analyze their detection results in PCR detection systems, evaluate the nucleic acid detection capabilities of laboratories and differences between detection systems, and put forward suggestions for continuous quality improvement to participating laboratories. Methods: Three groups of randomly numbered proficiency testing samples (with HBV DNA reference concentrations of <2, 7.5, and 30 IU/mL respectively) were taken as the detection objects. Using nucleic acid test data from 11 provincial blood station laboratories as the source, the samples were grouped by detection system and laboratory successively, and statistical analysis was conducted. Results: Statistical analysis of the detection data of the three groups of samples based on detection systems and laboratories showed that from low to high concentration, the coincidence rate between the detection results of different detection systems and laboratories and the expected results showed an increasing trend: 38.89%, 85.90%, and 100.00%; the same system exhibited certain differences in performance among different laboratories. Conclusion: Through this proficiency testing and system comparison, it is found that there are certain differences in the detection capabilities of different laboratories and different nucleic acid test systems. Blood station laboratories should standardize processes, strengthen quality management and data analysis on the basis of being familiar with the detection performance of their detection systems, and at the same time strengthen the control of laboratory interference factors to continuously improve the nucleic acid detection capabilities of blood station laboratories.

Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.

Objective:To evaluate the reliability and clinical application of a self-established classification system for the lower 1/3 humeral fractures in adults.Methods:A retrospective study was performed to analyze the 88 patients with lower 1/3 humeral fracture who had been admitted to Department of Orthopedics, The Second Hospital of Fuzhou between January 2013 and December 2020. There were 61 males and 27 females with an age of (34.6±12.7) years. The lower 1/3 humeral fractures were classified according to the location of the fracture line, displacement, and bone mass into 3 types: type Ⅰ: transverse and short oblique ones; type Ⅱ: oblique and spiral ones; type Ⅲ: oblique and spiral ones with butterfly-shaped bone mass. After a junior orthopedic surgeon, an intermediate orthopedic surgeon, a senior orthopedic surgeon, and a radiologist had learned this novel classification system, they were asked to classify the lower 1/3 humeral fractures in this cohort independently to assess the reliability of the classification system. Our treatments were based on this novel classification. Open reduction and internal fixation with a unilateral plate through a lateral approach was performed for type Ⅰ fractures, internal fixation with a unilateral plate plus compression screws through a lateral approach for type Ⅱ fractures, and double plate internal fixation through the ulnar and anterolateral approaches for type Ⅲ fractures. The functions of the radial, ulnar, and musculocutaneous nerves and fracture healing time were observed postoperatively. The shoulder and elbow functions were evaluated using Neer shoulder function score and Mayo elbow function score.Results:Of the 88 patients in this cohort, 20 were type Ⅰ, 25 type Ⅱ, and 43 type Ⅲ. The mean Kappa value for inter-observer reliability was 0.878 at the first stage and 0.914 at the second stage, and the mean Kappa value for intra-observer reliability was 0.950. All patients were followed up for (14.1±3.7) months. Iatrogenic injury to the radial nerve was observed in 2 patients, but no injury to the ulnar nerve, the musculocutaneous nerve or important blood vessels or failure of internal fixation was reported. All patients achieved bony union after (12.7±2.0) weeks. The maximum elbow flexion was 137.8°±4.8°, and the maximum elbow extension 2.4°±1.6°. The Mayo elbow function score was (92.0±3.1) points and the Neer shoulder function score (92.2±3.2) points.Conclusions:Our classification system for the lower 1/3 humeral fractures in adults is reliable. As the treatments corresponding to the novel classification system can achieve satisfactory clinical outcomes, the classification system has a clinical value.

Objective:To evaluate the clinical efficacy of modified anterior subacromial approach plate internal fixation for three- or four-part valgus impacted proximal humeral fractures.Methods:A retrospective analysis of 35 patients treated between November 2018 and November 2021 at Fuzhou Second General Hospital was performed, including 15 males and 20 females aged 61.7±7.8 years (range: 40 to 73 years). Patients were classified under the Neer system; 17 had 3-part fractures and 18 had 4-part fractures. The modified approach accessed the fracture site via the natural interval of the deltoid anterior bundle, facilitating fracture reduction and fixation using a plate. Operative time, incision length, intraoperative fluoroscopy time, follow-up duration, Constant-Murley score, fracture healing time, visual analogue scale (VAS) for pain, and humeral neck-shaft angle were assessed. Intraoperative and postoperative complications were also recorded.Results:All patients underwent successful surgery, with an average incision length of 8.1±0.3 cm (range, 7.6-9.0 cm) and intraoperative fluoroscopy time of 6.6±0.3 seconds (3-part fractures: 6.3±0.2 s, 4-part fractures: 6.8±0.2 s, t=6.350, P<0.001). Follow-up averaged 22.1±5.8 months (range, 14-31 months). Fracture healing occurred in 11.8±1.4 weeks (range, 10-15 weeks). At the final assessment, the VAS score was 1.6±0.7 (range, 1-3), the Constant-Murley score was 89.6±2.9 (range, 84-95), and the humeral neck-shaft angle was 133.4°±3.1° (range, 128°-138°; 3-part fractures: 133.6°±3.5°, 4-part fractures: 133.3°±2.8°, t=0.288, P=0.075). No complications such as avascular necrosis of the humeral head, varus collapse of the fracture site, or axillary nerve injury were recorded. Conclusion:The modified anterior subacromial approach plate internal fixation is a minimally invasive, safe, and effective treatment for valgus impacted three- and four-part proximal humeral fractures, demonstrated by excellent surgical outcomes and absence of major complications.

Objective:To investigate the clinical efficacy of proximal femoral nail anti-rotation (PFNA) assisted by the "3-2-1" surface positioning method in the treatment of femoral subtrochanteric fractures.Methods:A total of 97 patients with subtrochanteric fractures admitted to the Second Hospital of Fuzhou from January 2015 to December 2020 were retrospectively analyzed. They were divided into two groups according to whether the "3-2-1" surface positioning method (3 longitudinal axes, 2 preset incisions, and 1 auxiliary incision) was used. There were 44 patients in the surface positioning group, including 25 males and 19 females, aged 61.59±18.43 years (range, 22-90 years). According to the Seinsheimer classification, there were 13 cases of type II, 11 cases of type III, 6 cases of type IV, and 14 cases of type V. The mechanism of injury was low energy injury in 26 cases and high energy injury in 18 cases. There were 53 patients in the traditional positioning group, including 30 males and 20 females, aged 56.38±17.24 years (range, 24-90 years). According to the Seinsheimer classification, there were 9 cases of type II, 22 cases of type III, 9 cases of type IV, and 13 cases of type V. According to the mechanism of injury, there were 30 cases of low energy injury and 23 cases of high energy injury. The length of incision, operation time, and blood loss were recorded. At 1, 3, 6, and 12 months after operation, the anteroposterior and lateral X-ray films of the hip were taken to evaluate the imaging indicators (neck-shaft angle, anteroposterior and lateral displacement, and angulation), fracture healing, and complications (infection, malunion, loosening and breakage of the internal fixation, and periprosthetic fracture). The Harris hip score and EuroQol five dimensions questionnaire (EQ-5D) were evaluated.Results:All patients successfully completed the operation and were followed up for 15.12±1.54 months (range, 12-18 months). The operation time, incision length, dominant blood loss and hidden blood loss in the surface positioning group were 1.78(1.50, 2.00) h, 8(8, 9) cm, 300(200, 400) ml and 843(629, 1 130) ml, respectively, which were less than 2.10(1.69, 2.38) h, 10(9, 12) cm, 400(300, 500) ml and 1 030(954, 1 266) ml in the traditional positioning group, and the difference was statistically significant ( P<0.05). The neck-shaft angle in the surface positioning group was 135.54°±2.83°, which was larger than 132.33°±3.37° in the traditional positioning group, and the difference was statistically significant ( t=5.02, P<0.001). The anterolateral and lateral displacement and lateral image angle in the surface positioning group were 4.70±1.60 cm, 4.52±1.71 cm and 9.36°±2.94°, respectively, which were lower than 6.14±2.57 cm, 5.98±2.70 cm and 11.46°±4.68° in the traditional positioning group, and the difference was statistically significant ( P<0.05). One year after operation, the Harris hip score and EQ-5D score of the surface positioning group were 92(84, 99) points and 0.90(0.73, 1.00) points, respectively, which were higher than 88(74, 96) points and 0.81(0.72, 0.94) points of the traditional positioning group ( P<0.05). Conclusion:The "3-2-1" surface positioning method assisted PFNA internal fixation in the treatment of femoral subtrochanteric fracture can improve the quality of reduction, reduce intraoperative blood loss, and improve hip function and quality of life.

Objective:To investigate the differences in personality characteristics and cognitive functions in depression patients with and without obsessive-compulsive.Methods:From October 2020 to October 2021, 31 patients diagnosed as major depressive disorder(MDD) with obsessive-compulsive symptoms(OCS), totally 29 patients diagnosed as MDD without OCS, and 30 healthy controls(HC group) were recruited.The personality characteristics of all subjects were assessed with Eysenck personality questionnaire(EPQ), personality diagnostic questionnaire-4(PDQ-4) and Minnesota multiphasic personality inventory(MMPI), while cognitive functions were assessed with measurement and treatment research to improve cognition in schizophrenia(MATRICS)consensus cognitive battery(MCCB). SPSS 25.0 software was used for data processing, and univariate analysis of variance and simple effect analysis were used to compare the differences in personality characteristics and cognitive functions among the three groups of subjects.Results:The comparison of EPQ scores showed that the psychoticism scores of the group with and without OCS((50.32±10.08), (49.83±11.69)) were significantly lower than that of the HC group(59.47±10.41)( P=0.004, 0.003), while the neuroticism scores((61.94±12.36), (63.10±10.56)) were significantly higher than that of the HC group(46.13±8.33)(both P<0.05). The comparison of PDQ-4 scores showed that the schizoid score of the group with OCS(5.00(2.00, 7.00)) was significantly higher than that of the group without OCS(3.00(1.00, 5.00))( P=0.024). The comparison of MMPI scores showed that except for the two dimensions of masculinity-femininity and hypomania, the scores of the other eight dimensions in the group with and without OCS were significantly higher than those in the HC group(all P<0.01). The comparison of MCCB scores showed that the attention/alertness and visual learning scores of the group with OCS were significantly lower than those of the HC group( P=0.042, 0.004), meanwhile there was no difference of the all dimension scores of MCCB between the MDD patients with and without OCS. Conclusion:There are differences in personality and cognitive function between MDD patients with and without OCS and healthy controls.There is no difference in score of schizotypal personality traits between MDD patients with OCS and MDD patients without OCS, however the related cognitive function of MDD patients without OCS is not significantly different from that of MDD patients with OCS.It is suggested that MDD patients with OCS may have more deviated personality characteristics than those without OCS.Further research is needed to investigated the differences in cognitive impairment.

Obsessive-compulsive disorder (OCD) mainly manifests as obsessions and compulsions with the characteristics of early age of onset, long illness duration, and low diagnosis and treatment rate.The development of OCD involves mutations in genes associated with the 5-hydroxytryptamine, glutamate, and dopamine systems, as well as changes in the brain structure and function.However, how the potentially pathogenic genes affect brain structure and function and lead to different clinical manifestations remains unknown.Imaging genetics has been used to study the etiological mechanisms of OCD by combining genetics and imaging to analyze the relationship between genetic variation, neurologic and clinical manifestations.As a complex polygenic disease, imaging genetics that combines polygenic association analysis with epigenetic inheritance may become a new trend and perspective to explore the mechanism of the environment-gene-brain-behavior model in OCD.Therefore, this paper reviewed the related imaging genetics studies of OCD, and provided a theoretical basis for the etiological mechanism and precise intervention for OCD.

Objective:To find clues potentially valuable for fighting against infection with human respiratory syncytial virus (HRSV), the differentially expressed genes in HEp-2 cells infected with HRSV were analyzed.Methods:Gene expression profiles of HEp-2 cells infected with HRSV were collected from the public gene expression omnibus (GEO) database. The differentially expressed genes following HRSV infection at each time point of 4, 8, 12, and 15 hours were found using R language. The differentially expressed genes were analyzed by gene ontology (GO), KEGG pathway and protein-protein interaction network (PPI). Genes with relatively high protein interaction in PPI were randomly selected for quantitative reverse transcription-polymerase chain reaction (qRT-PCR) verification at the transcription level from HEp-2 cells after HRSV infection at 4 hours.Results:A total of 101 differentially expressed genes were determined, including 92 upregulated genes and 9 downregulated genes. Function enrichment analysis revealed that HRSV infection could cause significant changes in multiple signaling pathways such as immune response in HEp-2 cells. The results of qRT-PCR were consistent with the trend of transcriptome data.Conclusions:The differentially expressed genes and the change of signaling pathways in HRSV-infected HEp-2 cells is of great significance to the studies on pathogenic mechanism and prevention of HRSV infection.

Objective:To compare the conventional percutaneous minimally invasive plate fixation sparing pronator quadratus versus the 3-point positioning percutaneous minimally invasive palmar locking plate fixation sparing pronator quadratus for distal radial fractures.Methods:Between January 2015 and December 2017, 50 patients with distal radius fracture were treated surgically at Department of Orthopaedics, The Second Hospital of Fuzhou by percutaneous minimally invasive plate fixation sparing pronator quadratus. They were 24 males and 26 females, aged from 21 to 71 years. Conventional percutaneous minimally invasive plate fixation was conducted for 25 patients and 3-point positioning minimally invasive plate fixation for the other 25 patients. The 2 groups were compared in terms of fluoroscopic adjustments of the plate under the pronator quadratus, fracture healing time, visual analogue scale (VAS) on days 1, 3 and 7 postoperation, and wrist flexion and extension, forearm rotation and upper limb function by Disabilities of the Arm, Shoulder and Hand(DASH) scores and Gartland-Werley scores at 3 months postoperation.Results:There was no significant difference in the general data between the 2 groups, showing comparability between groups ( P>0.05). The fluoroscopic adjustments of the plate under the pronator quadratus for the conventional group (3.4±0.5) were significantly more than for the 3-point positioning group (1.1±0.3) ( P<0.05). The VAS scores on days 1, 3 and 7 postoperation for the conventional group were significantly higher than for the 3-point positioning group ( P<0.05). At 3 months postoperation, the wrist pronation was respectively 76.6°±1.9° and 82.3°±2.0°, and the Gartland-Werley scores were respectively 3.4±0.5 and 1.9±0.2 for the conventional and 3-point positioning groups, showing significant differences between the 2 groups ( P< 0.05). Conclusions:In the treatment of distal radial fractures, compared with conventional percutaneous minimally invasive plate fixation, the 3-point positioning minimally invasive plate fixation sparing pronator quadratus may minimize the damage to the pronator quadratus, be more minimally invasive, and lead to less early postoperative pain and faster functional recovery.

Objective To investigate the clinical application value of longitudinal peak strain( LPS ) and peak strain dispersion ( PSD ) in evaluating left ventricular systolic function and synchrony in patients with essential hypertension . Methods Fifty‐five patients with essential hypertension were enrolled , including 30 patients with non‐left ventricular hypertrophy ( NLV H ) , 25 patients with left ventricular hypertrophy ( LV H ) , at the same time , 30 healthy volunteers were selected as the control group . Echocardiography was performed in all three groups ,and two‐dimensional dynamic images of the left ventricular apical four‐chamber ,three‐chamber ,and two‐chamber′s long‐axis view s were collected for three consecutive cardiac cycles . T he myocardial layer‐specific strain was used to measure the LPS of the left ventricular myocardium of subendocardium ,the middle layer ,the subepicardium ,and the myocardial strain and the PSD of the w hole myocardial layers . Correlation analysis and ROC curve analysis were performed . Results T he LPS in the control group ,NLV H group and LV H group were decreased in turn from inner to out myocardial layers . Compared with the control group , the LPS in the subendocardial , middle , subepicardial ,and w hole myocardial layer of NLV H group were decreased ( P ＜ 0 .05 ) , and the subepicardial myocardial LPS was slightly lower than that in the control group ,the difference was not statistically significant ( P ＞ 0 .05 ) . T he LPS in the subendocardial , middle , subepicardial ,and whole myocardial layer of LV H group were all reduced ( P＜0 .05) . Between the NLV H group and LV H group , the declines of the LPS in the subendocardial and middle layer in the LV H group were statistically significant ( P ＜0 .05) ,the LPS in the subepicardial layer and the w hole myocardial layer had no significant difference ( P ＞0 .05) . Compared with the control group ,the PSD of the NLVH group and the LVH group increased ( P ＜ 0 .05 ) . Compared with the NLV H group ,the PSD of the LV H group increased ( P ＜0 .05) . Inter‐ventricular septum thickness ( IVSd) and the LPS in the subendocardial ,middle ,subepicardial , and w hole myocardial layer were negatively correlated ( r ＝ －0 .537 ,－0 .518 ,－0 .266 ,－0 .471 ; all P ＜0 .05) , left ventricle posterior wall thickness ( LVPWd ) and the LPS in the subendocardial , middle , subepicardial ,and whole myocardial layer were negatively correlated ( r ＝ －0 .539 , －0 .524 , －0 .283 ,－0 .478 ;all P ＜0 .05) . T he area under the ROC curve ( AUC) of the LPS in the subendocardial ,middle , subepicardial ,and w hole myocardial layer and PSD for the diagnosis of hypertension were 0 .685 ,0 .652 , 0 .510 ,0 .623 ,0 .995 ,respectively . T he cut‐off values were －21 .70% ,－18 .90% ,－16 .95% ,－19 .45% , 46 .50 ms , and the sensitivities were 94 .4% , 83 .3% , 77 .8% , 94 .4% , 100% , respectively , and the specificities were 47 .8% ,52 .2% ,39 .1% ,39 .1% ,95 .7% ,respectively . Conclusions T he layer‐specific strain can quantitatively evaluate myocardial longitudinal strain in patients with essential hypertension , provide a non‐invasive test for early diagnosis of hypertensive heart disease ,and the evaluation of left ventricular myocardial stratification . PSD for evaluating primary synchronous changes in left ventricular myocardial contraction in patients with hypertension has certain advantages .