Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China / 中国当代儿科杂志

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Clinical and fundus imaging features of acute macular neuroretinopathy associated with COVID-19 / 中华眼底病杂志

Objective:To observe the clinical and fundus imaging features of acute macular neuroretinopathy (AMN) associated with COVID-19.Methods:A retrospective case study. A total of 32 eyes of 18 patients diagnosed of AMN associated with COVID-19 at Chengdu Aidi Eye Hospital from December 2022 to February 2023 were included. All patients had a history of fever 1 to 5 days prior to ocular onset and tested positive for SARS CoV-2 antigen. All patients were examined by best-corrected visual acuity (BCVA), color fundus photography, scanning laser ophthalmoscope (SLO), infrared fundus photography (IR), and optical coherence tomography (OCT); OCT angiography, visual field and multifocal electroretinogram (mf-ERG) were performed in 6 patients (11 eyes), 3 patients (6 eyes) and 1 patient (2 eyes), respectively. Follow-up time was 8-10 weeks. The clinical and fundus imaging features were observed and analyzed.Results:There were 6 males (12 eyes) and 12 females (20 eyes), aged from 15 to 36 years, with the mean age of (28.00±5.86) years. Fourteen patients were bilateral and 4 patients were unilateral. The time from the onset of eye symptoms to seeing a doctor was ranged from 1 day to 8 weeks. Among them, 6 patients (10 eyes) visited the doctor within 3 days of onset, while 12 patients (22 eyes) visited the doctor after 3 days of onset. The BCVA was 0.80±0.29. Fundus color photography and SLO examination showed that only 2 patients (4 eyes) showed sheet or petal-like dark red lesions in the macular area, and no obvious abnormal changes were observed in other patients. No obvious abnormalities were found in AF examination of all patients. IR examination showed no significant abnormality in 6 cases which came to hospital within 3 days after the onset, but irregular hyporeflective dark shadow lesions in the macular region of patients with more than 3-day course of disease was observed. OCT examinations of all eyes showed hyperreflective band or patchy lesion on the outer plexiform layer (OPL) and outer nuclear layer (ONL) and affect the ellipsoid zone (EZ) and interdigitation zone (IZ). In 11 eyes of 6 patients undergoing OCTA examination, the blood flow density of the choroidal capillary layer in the focal area decreased. In 6 eyes of 3 patients who underwent visual field examination, the physiologic scotoma was slightly enlarged. One patient (2 eyes) receiving mf-ERG showed a concave reduction in macular center amplitude. The hyperreflective band lesion on OPL and ONL disappear rapidly within 2 weeks, while the continuity of EZ recovered slowly, and the disruption of IZ kept existing for more than 10 weeks.Conclusions:Most AMN associated with COVID-19 are young women; IR showed irregular weak reflex in the lesion area. OCT showed strong OPL and ONL reflection. OCTA was characterized by decreased blood flow density in the choroidal capillary layer of the focal area.

Reproducible Abnormalities and Diagnostic Generalizability of White Matter in Alzheimer's Disease / 神经科学通报·英文版

Alzheimer's disease (AD) is associated with the impairment of white matter (WM) tracts. The current study aimed to verify the utility of WM as the neuroimaging marker of AD with multisite diffusion tensor imaging datasets [321 patients with AD, 265 patients with mild cognitive impairment (MCI), 279 normal controls (NC)], a unified pipeline, and independent site cross-validation. Automated fiber quantification was used to extract diffusion profiles along tracts. Random-effects meta-analyses showed a reproducible degeneration pattern in which fractional anisotropy significantly decreased in the AD and MCI groups compared with NC. Machine learning models using tract-based features showed good generalizability among independent site cross-validation. The diffusion metrics of the altered regions and the AD probability predicted by the models were highly correlated with cognitive ability in the AD and MCI groups. We highlighted the reproducibility and generalizability of the degeneration pattern of WM tracts in AD.

A preliminary study on the prevention of hemorrhage after laparoscopic pancreaticoduodenectomy by wrapping gastroduodenal artery stump in the left external liver lobe and the left caudate lobe / 中华外科杂志

Objective: To investigate the safety and efficacy of embedding the stump of gastroduodenal artery between the left lateral lobe of the liver and the left caudate lobe to prevent bleeding after laparoscopic pancreaticoduodenectomy. Methods: The clinical data of 41 patients who underwent laparoscopic pancreaticoduodenectomy at the second Hospital of Hebei Medical University from October 2021 to April 2022 were analyzed retrospectively.There were 27 males and 14 females, aged (63.0±9.2)years (range: 48 to 78 years), and the body mass index was (24.1±3.2)kg/m2 (range: 15.4 to 31.6 kg/m2). After routine laparoscopic pancreaticoduodenectomy, the stump of gastroduodenal artery was embedded between the left lateral lobe and the left caudate lobe of the liver, and the hepatic parenchyma of the left lateral lobe and the left caudate lobe were sutured with absorbable sutures.The occurrence and recovery of postoperative complications (pancreatic fistula, biliary fistula, postoperative abdominal bleeding, abdominal infection, liver abscess) were observed. Results: All the operations of 41 patients were completed successfully.The operation time was (277.5±52.0) minutes (range: 192 to 360 minutes). The entrapment time of gastroduodenal artery stump was (3.1±0.6) minutes (range: 2.3 to 4.2 minutes), and the intraoperative blood loss (M(IQR)) was 300 (200) ml (range: 50 to 800 ml).The results of ultrasound examination of hepatic artery on the first day after operation showed that the blood flows of hepatic artery were unobstructed.Postoperative pancreatic fistula occurred in 3 cases, including grade B pancreatic fistula in 2 cases (1 case with abdominal infection) and biochemical leakage in 1 case. Three patients with pancreatic fistula were discharged successfully after continuous abdominal drainage. There was no biliary fistula, abdominal bleeding, abdominal infection, liver abscess or postoperative liver dysfunction. Conclusion: The encasement of the gastroduodenal artery stump by the left outer and left caudate lobes of the liver may be an effective way to prevent bleeding from the rupture of the gastroduodenal artery stump after laparoscopic pancreatoduodenectomy, which is easy and safe to perform.

Progress in research of risk prediction of non-syndromic oral clefts using genetic information / 中华流行病学杂志

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.

Analysis of neuropsychological development characteristics and influencing factors in children with speech sound disorder / 中华预防医学杂志

Objective: Exploring the neuropsychological developmental characteristics and influencing factors of children with speech disorder. Methods: A case-control study was conducted. A total of 395 children diagnosed with speech disorders were selected as speech sound disorder (SSD) group from January 2019 to September 2021 in the speech-speech outpatient department of the Children's Hospital Affiliated to Capital Institute of Pediatrics, and 1 179 healthy children who underwent physical examination in the health department during the same period were selected as the control group. All the children were examined by the "Children's Neuropsychological Behavior Scale 2016 Edition" (Children's Mind Scale 2016 edition). Independent sample t test was used to compare the developmental levels of the two groups of children, including total developmental quotient, gross motor, fine motor, adaptive ability, language and social behavior ability. The influential factors of children's speech disorders were analyzed by univariate Chi-square analysis and multivariate logistic regression. Results: There were 395 SSD children, including 296 males and 99 females, 4≤ age ≤6, (4.71±0.76) years. There were 1 179 children in the control group, including 864 males and 315 females, 4≤ age ≤6, (4.64±0.78) years. The mean value of total developmental factors in SSD group was lower than that in control group [(86.45±11.57)/(91.24±8.0), t=-7.78, P<0.01], and the mean values of total developmental markers in both boys and girls in SSD group were lower than those in control group [(86.00±11.40)/(90.78±7.86), t=-6.70, P<0.01; (87.82±12.03)/(92.87±8.49), t=-3.88, P<0.01]. The mean values of gross motor, fine motor, adaptive ability, language ability and social behavior in SSD group were lower than those in control group [(89.76±12.47)/(92.01±10.69), t=-3.21, P<0.01; (80.62±13.64)/(84.49±11.55), t=-5.06, P<0.01; (87.92±15.25)/(92.98±12.06), t=-6.00, P<0.01; (86.48±16.30)/(94.55±12.08), t=-9.04, P<0.01; (87.02±15.18)/(92.63±12.57), t=-6.62, P<0.01]; The mean value of fine motor in boys was lower than that in girls in SSD group [(79.80±13.42)/(83.08±14.05), t=-2.08, P<0.05]. Independent mealtimes. 2 years old (OR=1.527, 95%CI: 1.180-1.977, P=0.001), delay in adding supplemental food (OR=1.510, 95%CI: 1.123-2.029, P=0.006), dialect in the home language environment (OR=1.351, 95%CI: 1.060-1.723, P=0.015) were risk factors for children with speech disorders. Conclusion: Children with speech disorders are more common in boys. The overall development level of SSD children is lower than that of normal children, and the fine motor of SSD boys is lower than that of girls. The incidence of children's speech disorders is related to the addition time of supplementary food, independent meal time and family language environment.

Application and mechanism of nanomedicine and nanomaterials in antibacterial infection therapy / 药学学报

Antibacterial therapy is a global health issue. The antibiotic resistance is becoming an increasingly serious threat, which caused by misuse and overuse of antibacterial agents combined with the emergence of new resistance mechanism. The resulting infection treatment risk and incidence of the spread of disease, severe cases and deaths are increased in different degrees. With the extensive application of biomaterials and nanotechnology to biomedicine, extensive research has been conducted on antibacterial infection. With the specific physicochemical properties like optical, electric and magnetic and high penetration, inorganic nanomaterials can produce natural antibacterial effect. Nanomedicine can be designed to allow controlled drug release and targeting effect, thus demonstrated better antibacterial efficiency. In this review, the mechanism of antibacterial resistance is described, and the antibacterial infection research on inorganic nanomaterials, as well as nano-drug delivery system including liposomes, nanoparticles, dendrimers and biomimetic nanocarriers are summarized. Nanomaterials and nanotechnology offer promising strategies for the development of new agents that can improve efficacy on antibacterial infections and overcome antibiotic resistance potentially.

Secular trends of age at menarche and age at menopause in women born since 1951 from a county of Shandong Province, China / 北京大学学报(医学版)

OBJECTIVE@#To describe the secular trends of age at menarche and age at natural menopause of women from a county of Shandong Province.@*METHODS@#Based on the data of the Premarital Medical Examination and the Cervical Cancer and Breast Cancer Screening of the county, the secular trends of age at menarche in women born in 1951 to 1998 and age at menopause in women born in 1951 to 1975 were studied. Joinpoint regression was used to identify potential inflection points regarding the trend of age at menarche. Average hazard ratios (AHR) of early menopause among women born in different generations were estimated by performing multivariate weighted Cox regression.@*RESULTS@#The average age at menarche was (16.43±1.89) years for women born in 1951 and (13.99±1.22) years for women born in 1998. The average age at menarche was lower for urban women than that for rural women, and the higher the education level, the lower the average age at menarche. Joinpoint regression analysis identified three inflection points: 1959, 1973 and 1993. The average age at menarche decreased annually by 0.03 (P < 0.001), 0.08 (P < 0.001), and 0.03 (P < 0.001) years respectively for women born during 1951-1959, 1960-1973, and 1974-1993, while it remained stable for those born during 1994-1998 (P=0.968). As for age at menopause, compared with women born during 1951-1960, those born during 1961-1965, 1966-1970 and 1971-1975 showed a gradual decrease in the risk of early menopause and a tendency to delay the age at menopause. The stratified analysis presented that the risk of early menopause gradually decreased and the age of menopause showed a significant delay among those with education level of junior high school and below, but this trend was not obvious among those with education level of senior high school and above, where the risk of early menopause decreased and then increased among those with education level of college and above, and the corresponding AHRs were 0.90 (0.66-1.22), 1.07 (0.79-1.44) and 1.14 (0.79-1.66).@*CONCLUSION@#The age at menarche for women born since 1951 gradually declined until 1994 and leveled off, with a decrease of nearly 2.5 years in these years. The age at menopause for women born between 1951 and 1975 was generally delayed over time, but the trend of first increase and then decrease was observed among those with relatively higher education levels. In the context of the increasing delay in age at marriage and childbearing and the decline of fertility, this study highlights the necessity of the assessment and monitoring of women' s basic reproductive health status, especially the risk of early menopause.

Perioperative management and operative treatment of malignant tumor of anal canal merging severe abdominal protuberance / 中华胃肠外科杂志

Objective: To report the perioperative management and robot-assisted minimally invasive surgery results of one case with malignant tumor of anal canal combined with severe abdominal distention. Methods: A 66-year-old male suffer from adenocarcinoma of anal canal (T3N0M0) with megacolon, megabladder and scoliosis. The extreme distention of the colon and bladder result in severe abdominal distention. The left diaphragm moved up markedly and the heart was moved to the right side of the thoracic cavity. Moreover, there was also anal stenosis with incomplete intestinal obstruction. Preoperative preparation: fluid diet, intravenous nutrition and repeated enema to void feces and gas in the large intestine 1 week before operation. Foley catheter was placed three days before surgery and irrigated with saline. After relief of abdominal distention, robotic-assisted abdominoperineal resection+ subtotal colectomy+colostomy was performed. Results: Water intake within 6 hours post-operatively; ambulance on Day 1; anal passage of gas on Day 2; semi-fluid diet on Day 3; safely discharged on Day 6. Conclusion: Robotic-assisted minimally invasive surgery is safe and feasible for patients with malignant tumor of anal canal combined with severe abdominal distention after appropriate and effective preoperative preparation to relieve abdominal distention.

Anti-CASPR2 antibody-associated autoimmune encephalitis： a case report / 四川精神卫生

This paper elaborated a case of an elderly patient with anti-contactin-associated protein-like 2 （CASPR2） antibody-associated autoimmune encephalitis. It illustrated the common manifestations and diagnostic process of anti-CASPR2 antibody-associated encephalitis， and the analysis of clinical symptoms and ancillary findings had contributed to gaining insight into the diagnosis of autoimmune encephalitis in elderly patients characterized by distinct psycho-behavioral abnormalities and cognitive decline， as well as suggesting the possibility that autoimmune encephalitis in elderly may exacerbate the development of cerebrovascular disease.

Rapid determination of acetaminophen in plasma by LC-MS/MS / 中华劳动卫生职业病杂志

Objective: To establish a method for the rapid determination of acetaminophen (APAP) in human plasma by LC-MS/MS. Methods: The plasma samples were extracted by methanol and acetonitrile (1: 1) and purified directly. C(18) column was used for sample separation. The mobile phase were methanol (5 mmol/L ammonium acetate) and water (5 mmol/L ammonium acetate). Samples were analyzed by LC MS/MS with the electrospray ionization multi reaction monitoring (MRM) mode. Results: The calibration curves of APAP was linear in the concentration range of 0~10 mg/L, the correlation coefficient (r) was greater than 0.999 0. The relative standard deviation within and between batches was less than 10%. The recovery rate were 96.81%~101.7%. The detection limit of the method was 0.1 μg/L and the lower limit of quantification was 0.3 μg/L. Conclusion: This method has strong specificity, high sensitivity and reliable determination results. It is suitable for the rapid analysis of clinical plasma samples.

Effects of screen exposure on language skills in children / 中华儿科杂志

Objective: To investigate the association between screen exposure and language skills in children aged 2-5 years. Methods: There were 299 children aged 2-5 years, recruited by convenience sampling from those who visited the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics for routine physical examination from November 2020 to November 2021. Their development status were evaluated by the children neuropsychological and behavioral scale (revision 2016). A self-designed questionnaire for parents was conducted to collect demographic and socioeconomic information and screen exposure characteristics (time and quality). One-way ANOVA and independent sample t test were applied to compare the differences in language development quotient of children with different screen exposure time and quality. Multiple linear regression was used to analyze the correlation between screen exposure time and quality with language developmental quotient. Multivariate Logistic regression was used to analyze the risk of language underdevelopment in children with different screen exposure time and quality. Results: Among 299 children, 184 (61.5%) were boys and 115 (38.5%) were girls, with the age of (3.9±1.1) years. The number of children with daily screen time <60, 60-120 and>120 min was 163 children (54.5%), 86 children (28.8%) and 50 children (16.7%), respectively, with the language development quotients of 94±13, 90±13, 84±14, respectively, demonstrating a statistically significant difference (F=8.92, P<0.001). Logistic regression analysis revealed that screen exposure time of 60-120 and >120 min per day were both risk factors for children's language developmental quotients (OR=2.28, 95%CI 1.00-5.17, P=0.043; OR=3.96, 95%CI 1.86-9.17, P<0.001), and co-viewing and exposure to educational programs were both protective factors for children's language developmental quotients (OR=0.48, 95%CI 0.25-0.91, P=0.024, OR=0.36, 95%CI 0.19-0.70, P=0.003). Conclusions: Excessive exposure screen time and inappropriate screen exposure habits are associated with children's poorer language development. Screen exposure time should be limited and screen use should be rational to promote children's language skills.

Factors influencing pulmonary function in persons with adolescent idiopathic scoliosis / 中华物理医学与康复杂志

Objective:To explore the factors influencing the pulmonary function of persons with mild to moderate adolescent idiopathic scoliosis (AIS).Methods:Forty-four persons with AIS were tested for their pulmonary ventilation functioning. The indicators were the percentage of forced vital capacity (FVC%), the percentage of forced expiratory volume in the first second (FEV1%) and the percentage of maximum chase volume (MVV%). Data including age, gender, course of disease, dancing habits, exercise habits, body mass index (BMI), Cobb angle, rotation angle, diaphragm thickness, and diaphragm excursion (DE) were also collected. Linear regressions were evaluated to analyze the factors best predicting pulmonary functioning. Spearman correlation coefficients were computed to quantify the correlation between respiratory muscle functioning and pulmonary functioning.Results:The univariate analysis showed that dancing and DE independently influence FVC%, FEV1%, and MVV%. DE was the only independent factor significantly predicting pulmonary functioning for mild to moderate AIS patients. DE was also significantly positively correlated with average FVC%, FEV1% and MVV%.Conclusions:Respiratory training aimed at enhancing DE is necessary to improve the pulmonary ventilation of persons with AIS.

Analysis of clinical and psychological characteristics in 250 patients with fibromyalgia / 中华内科杂志

To analyze the clinical and psychological characteristics of fibromyalgia (FM), so as to further understand and improve the capability of identifying FM. The clinical data of 250 FM patients diagnosed in the outpatient clinic of the Department of Rheumatology, the First Medical Center, Chinese PLA General Hospital, from December 2019 to September 2021, were collected and analyzed. The patients aged 40 (31.0, 52.3) years, including 188 female patients (75.2%) and 62 male patients (24.8%). There was a statistically significant difference in age comparison between female [42.5 (33.0,54.0) years] and male patients [32.5 (27.8,43.5) years] ( P<0.001). The score of pain degree was 6 (4, 8), and [7 (5, 8)] of female patients was higher than [6 (4, 7)] of the male patients ( P=0.040). The widespread pain index (WPI) was 13 (10,15). The regions with high pain incidence were left shoulder girdle (87.2%, 218/250), right shoulder girdle (86.8%, 217/250), upper back (86.4%, 216/250), neck (79.6%, 199/250) and lower back (77.6%, 194/250) and etc. The incidence of chest pain in female patients (55.3%, 104/188) was lower than that in male patients (75.8%, 47/62) ( P=0.004). The symptom severity scale (SSS) score was 8 (7-10). 74.6% (185/248) suffered from anxiety and 77.5% (193/249) suffered from depression in 249 patients. Female patients were more common in FM patients than male patients, the median age of female patients was older than that of male patients, and the median score of pain severity of female patients was higher than male patients. Shoulders girdle, upper back, neck and lower back were the most frequently reported pain regions, and the incidence of chest pain in female patients was lower than that in male patients. The incidence of major non-painful symptoms was high and the proportion with anxiety or depression was high. The above clinical features are very helpful for early diagnosis of FM.

The clinical feature and treatment strategy of the transsyndesmotic ankle fracture dislocation / 中华骨科杂志

Objective:To explore the clinical features and treatment strategies of the transsyndesmotic ankle fracture dislocation.Methods:Data of 26 patients of transsyndesmotic ankle fracture dislocation who were treated in our hospital from December 2013 to November 2020 were retrospectively analyzed. There were 16 men and 10 women with an average age of 49.54±12.81 years (range, 26-68 years). Open injuries in 17 cases, of which the Gustilo-Anderson II type in 6 cases, IIIA type in 11 cases, closed injuries in 9 cases. According to the AO/OTA fracture classification, 44B type in 4 cases, 44C type in 22 cases. According to the Lauge-Hansen classification, there were 16 cases of pronation-abduction, 10 cases of pronation-external rotation, including 4 cases of Maisonneuve fractures, and of the 4 cases of Maisonneuve fractures, there were 3 cases of double Maisonneuve fracture. The talar dislocation was anterior, neutral, and posterior within the distal tibiofibular joint in 10 cases, 7 cases, and 9 cases. Fibular fractures in 26 cases, medial malleolar fractures in 24 cases, deltoid ligament rupture in 2 cases, posterior malleolar fractures in 13 cases, and anterior malleolar fractures in 8 cases. All closed injuries were closed reduction and plaster fixation and all open injuries were emergently debridement and reduced under the tibial plafond in the emergency department. Surgical treatment was taken until the soft tissue conditions to be allowed. The reduction quality was assessed by postoperative radiography according to the criteria proposed by Burwell-Charnley. The function of the ankle joint was assessed by the ankle-hindfoot rating system of the American Orthopaedic Foot and Ankle Society (AOFAS), and the posttraumatic arthritis and objectively quantified was assessed using the Kellgren-Lawrence grading scale.Results:There were 4 cases were unreduced due to the tibial posterior tendon to flip through the ankle joint and dislocate anterior to the tibia through the interosseous membrane. Stabilization of fibular fractures were achieved with plate in 25 cases. There were 24 cases of medial malleolar fractures, and the fixation were achieved with cannulated screws in 23 cases and with K-wire fixation in 1 case. There were 12 cases of posterior malleolar fractures treated with open reduction and internal fixation including cannulated screws in 9 cases and antiglide plates in 3 cases. There were 7 cases of anterior malleolar fractures treated with open reduction and internal fixation including suture anchors in 1 case and cannulated screws in 6 cases. Stabilization of syndesmosis was achieved with syndesmotic screws in 14 cases and with TightRope in 2 cases. All patients were followed up for 20.23±9.70 months (range, 12-60 months). According to the Burwell-Charnley criteria of reduction quality, anatomic reduction was obtained in 22 cases, and satisfactory reduction was gained in 4 cases. All fractures healed in 16.31±3.64 weeks (range, 10-24 weeks). Functional examination of the ankle joint (angle measurement method): dorsiflexion average angle 10.38°±6.66°, plantarflexion average angle 34.04°±7.20°. At latest follow up, the AOFAS score was 83.30±13.94 (range, 24-100). Ten (38%) of 26 patients had radiographic evidence of posttraumatic ankle arthritis. According to the Kellgren-Lawrence grading scale criteria, there were grade I in 5 cases, II in 2 cases, III in 2 cases, and IV in 1 case. 2 cases of wound dishence were recovered through changing dressing and 2 cases of skin necrosis were recovered by skin graft and flap transposition respectively. There were no significant complications such as infection, nonunion, or implant failure.Conclusion:The transsyndesmotic ankle fracture dislocation, represents an exceptional pattern of high-energy fractures with significant syndesmotic disruption, and potential soft tissue compromise. Careful attention to radiographic findings can identify unique fracture characteristics relative to operative decision-making. Tibialis posterior tendon dislocation, a rare complication in the transsyndesmotic ankle fracture dislocation injuries, can impede anatomical reduction of the ankle mortise. The open reduction and internal fixation may be an optimal approach to treat transsyndesmotic ankle fracture dislocation injuries. However, the rate of posttraumatic arthritis is relatively high.

Correlation between heart rate variability and symptom severity in patients with somatic symptom disorder / 中华行为医学与脑科学杂志

Objective:To investigate the correlation between heart rate variability (HRV) and symptom severity in patients with somatic symptom disorder (SSD).Methods:Thirty-three patients with somatic symptom disorder (SSD group) who were outpatients or inpatients in Sichuan Provincial People′s Hospital from May 2020 to December 2020 and thirty-three gender-and age-matched healthy controls (HC group) were selected. The patient health questionnaire (PHQ-9), generalized anxiety disorder scale (GAD-7), patient health questionnaire PHQ-15 were applied to assess the severity of depression, anxiety and somatic symptoms in both groups. The somatic system disorder-B criteria scale (SSD-12) and the Whiteley-8 Scale (WI-8) were selected to assess the severity of symptom in SSD. All subjects underwent HRV measurement within one week of enrollment. The differences of HRV between the two groups were compared and the correlation between HRV and symptom severity were analyzed. Independent samples t-test was used for comparison between groups, and Pearson correlation analysis was used for correlation analysis between HRV index and symptom severity. Results:The levels of GAD-7, PHQ-9 and PHQ-15 in SSD group(5.0(2.0, 10.5), 8.0(3.5, 13.0), 11.0(8.0, 15.0)) were significantly higher than those in HC group (1.0(0, 2.0), 0(0, 2.0), 3(0, 6.0)), and the differences were statistically significant (all P<0.05). The SDNN ((25.41±11.24)ms), lnLF ((1.91±0.50)ms 2) and lnTP ((2.65±0.43)ms 2) in the SSD group were lower than those in the HC group ((32.87±12.01)ms, (2.27±0.43)ms 2, (2.93±0.32)ms 2), and the differences were statistically significant( t=-2.605, -3.160, -2.883, all P<0.05). RMSSD of SSD patients was negatively correlated with GAD-7, PHQ-9, and behavioral and cognitive factor scores of SSD-12 ( r=-0.360--0.404, P<0.05), lnHF was negatively correlated with GAD-7, PHQ-9 and behavioral factor scores of SSD-12 scores ( r=-0.491--0.402, all P<0.05), and lnLF/HF was positively correlated with PHQ-9 ( r=0.413, P<0.05) and lnTP was positively correlated with GAD-7 ( r=0.383, P<0.05). Conclusion:HRV is reduced in SSD patients and correlated with symptom severity, indicating the clinical potential of HRV index as a biological marker of SSD.

Evaluation and management of application of antibiotics in PICU / 中国小儿急救医学

Antibiotics are the most commonly used medicines in PICU.For children with severe infection, it is very important to ensure the curative effect of patients and reduce the adverse effects of antibiotic abuse through reasonable empirical initial use of antibiotics, timely evaluation and regulation, and appropriate course of antibiotic treatment.This review discussed several main problems of clinical application of antibiotics in PICU, in order to help clinicians in PICU improve the evaluation and management of antibiotics use.

Genetic Analysis of Thalassemia in 22 940 Pregnant Women in Xiangxi Tujia and Miao Autonomous Prefecture / 中国实验血液学杂志

OBJECTIVE@#To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao Autonomous Prefecture.@*METHODS@#Automatic capillary electrophoresis was used to screen the thalassemia phenotypes of 22 940 blood samples of pregnant women and puerperants collected in our hospital and some other medical institutions in the prefecture during 2017-2019, among which there were 3 356 cases of Tujia ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were indicated. The samples with positive result would undergo further genetic testing.@*RESULTS@#There were 2 314 cases of suspicious thalassemia were screened from 22 940 cases by the electrophoresis, thus the positive rate was 10.1% (hematological phenotypes from some other institutions were not included). Specifically, there were 1 706 cases with HBA2 less than 2.5%, 255 cases with HBA2 ranged from 2.5% to 3.5%, which displayed abnormal hematology (MCV or/and MCH) or other abnormal bands, and 353 cases with HBA2>3.5%. There were 436 suspected positive patients in 2 314 suspicious samples received further thalassemia gene testing in our hospital, among them 48 cases were diagnosed with α-thalassemia, 85 cases with β-thalassemia, and 2 cases as compound type. The positive diagnosis rate of α-thalassemia gene test was 11.0%, β-thalassemia was 19.4%, and positive pregnant women was 31.0%.@*CONCLUSION@#The positive rate of thalassemia screening in Xiangxi Autonomous Prefecture is roughly the same as that in other regions of Hunan. The positive predictive value of β-thalassemia screening is as high as 86%. Compared with the missed screening data, it is recommended to use hematology (MCV, MCH) method combined with capillary hemoglobin electrophoresis for thalassemia screening.

Retrospective and cost-effective analysis of the result of Changsha Municipal Public Welfare Program by Noninvasive Prenatal Testing / 中华医学遗传学杂志

OBJECTIVE@#To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program.@*METHODS@#A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed.@*RESULTS@#NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035.@*CONCLUSION@#NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.

Research on injection flow velocity planning method for embolic agent injection system / 生物医学工程学杂志

Interventional embolization therapy is widely used for procedures such as targeted tumour therapy, anti-organ hyperactivity and haemostasis. During embolic agent injection, doctors need to work under X-ray irradiation environment. Moreover, embolic agent injection is largely dependent on doctors' experience and feelings, and over-injection of embolic agent can lead to reflux, causing ectopic embolism and serious complications. As an effective way to reduce radiation exposure and improve the success rate of interventional embolization therapy, embolic agent injection robot is highly anticipated, but how to decide the injection flow velocity of embolic agent is a problem that remains to be solved. On the basis of fluid dynamics simulation and experiment, we established an arterial pressure-injection flow velocity boundary curve model that can avoid reflux, which provides a design basis for the control of embolic agent injection system. An in vitro experimental platform for injection system was built and validation experiments were conducted. The results showed that the embolic agent injection flow speed curve designed under the guidance of the critical flow speed curve model of reflux could effectively avoid the embolic agent reflux and shorten the embolic agent injection time. Exceeding the flow speed limit of the model would lead to the risk of embolization of normal blood vessels. This paper confirms the validity of designing the embolic agent injection flow speed based on the critical flow speed curve model of reflux, which can achieve rapid injection of embolic agent while avoiding reflux, and provide a basis for the design of the embolic agent injection robot.