Quantitative analysis of differences in blood flow parameters in the macular area of healthy people of different ethnic groups in Xinjiang by OCTA / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To measure the superficial capillary plexus(SCP)vessel density(VD), deep capillary plexus(DCP)VD, and the area, circumference, and roundness index of the foveal avascular zone(FAZ)in healthy individuals of four ethnic groups, namely, Uyghur, Han, Kazakh, and Hui by optical coherence tomography angiography(OCTA), and to investigate the differences of blood flow parameters in macular area of healthy individuals among different ethnic groups in China.METHODS: A total of 80 cases(80 eyes)of healthy subjects if each of the four ethnic groups who went to the Eye Center of the Friendship Hospital of Ili Kazak autonomous Prefecture from December 2022 to March 2023 and met the criteria were selected for the study, with 320 eyes totally. The patients were grouped and numbered according to their ethnicity, and the spherical equivalent and axial length were obtained by using an autorefractor and IOL Master. The blood flow images of the macular area in the range of 3 mm×3 mm were obtained by using a DRI Triton OCT detector, and the images were analyzed by using the built-in IMAGENET6 software to obtain the blood flow parameters. Furthermore, the differences in the blood flow parameters between different ethnic groups as well as the effects of gender, age, and axial length on macular blood flow parameters of different ethnic groups were compared.RESULTS:There were no statistically significant differences in gender, age, axial length, diopter, and image quality(IQ)among the four groups of subjects(all P>0.05). Ethnic differences: in SCP, Uyghur inferior VD is higher than Kazakh, Hui inferior VD is higher than Han and Kazakh, Han and Hui nasal VD is higher than Uyghur, Kazakh foveal VD is higher than Han and Hui, Kazakh FAZ area is smaller than the other 3 ethnic groups, Han and Hui FAZ perimeter is larger than Kazakh, and Hui FAZ circularity index is lower than the other 3 ethnic groups; in DCP, Uyghur foveal VD is higher than Han and Hui, Kazakh foveal VD is higher than Han and Hui, Kazakh FAZ area and perimeter are smaller than the other 3 ethnic groups and Kazakh FAZ circularity index is higher than the other 3 ethnic groups(all P<0.05). Sex differences: in SCP, FAZ area and perimeter of Han females were larger than those of males, and FAZ circularity index of Hui females was higher than that of males(all P<0.05); in DCP, parafoveal VD and whole VD in females of all four ethnic groups were higher than those of males(all P<0.05). Age correlation: in SCP, age was negatively correlated with the FAZ circularity index of Kazakh; in DCP, age was negatively correlated with the parafoveal and the whole VD of Han, Kazakh, and Hui(all P<0.05). Axial length correlation: in SCP, the axial length was negatively correlated with Kazakh and Hui foveal VD, Hui parafoveal VD, Uyghur, Kazakh and Hui whole VD, and positively correlated with Kazakh FAZ area and perimeter; in DCP, the axial length was negatively correlated with Uyghur, Kazakh, Hui foveal VD, Hui whole VD, and positively correlated with Kazakh and Hui FAZ area and perimeter(all P<0.05).CONCLUSION:There were differences in macular blood flow parameters among the Uyghur, Han, Kazakh, and Hui populations, with the area and perimeter of the FAZ of the Kazakh significantly smaller than those of the other three ethnic groups. Gender, age, and axial length are also related to macular blood flow parameters.

A case of neonatal Netherton syndrome / 中国当代儿科杂志

A male infant, aged 6 days, was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth. The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome. The family opted for palliative care, and the infant died at the age of 2 months after discharge. This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period, and highlights multidisciplinary diagnosis and therapy for this condition.

Application value of bone cement containing rhbFGF and RHBMP-2 in PKP treatment of osteoporotic lumbar compression fracture / 中国骨伤

OBJECTIVE@#To investigate the effect of bone cement containing recombinant human basic fibroblast growth factor (rhbFGF) and recombinant human bone morphogenetic protein-2 (rhBMP-2) in percutaneous kyphoplasty(PKP)treatment of osteoporotic vertebral compression fracture(OVCF).@*METHODS@#A total of 103 OVCF patients who underwent PKP from January 2018 to January 2021 were retrospectively analyzed, including 40 males and 63 females, aged from 61 to 78 years old with an average of (65.72±3.29) years old. The injury mechanism included slipping 33 patients, falling 42 patients, and lifting injury 28 patients. The patients were divided into three groups according to the filling of bone cement. Calcium phosphate consisted of 34 patients, aged(65.1±3.3) years old, 14 males and 20 females, who were filled with calcium phosphate bone cement. rhBMP-2 consisted of 34 patients, aged (64.8±3.2) years old, 12 males and 22 females, who were filled with bone cement containing rhBMP-2. And rhbFGF+rhBMP-2 consisted of 35 patients, aged (65.1±3.6) years old, 14 males and 21 females, who were filled with bone cement containing rhbFGF and rhBMP-2. Oswestry disability index (ODI), bone mineral density, anterior edge loss height, anterior edge compression rate of injured vertebra, visual analog scale (VAS) of pain, and the incidence of refracture were compared between groups.@*RESULTS@#All patients were followed for 12 months. Postoperative ODI and VAS score of the three groups decreased (P<0.001), while bone mineral density increased (P<0.001), anterior edge loss height, anterior edge compression rate of injured vertebra decreased first and then slowly increased (P<0.001). ODI and VAS of group calcium phosphate after 1 months, 6 months, 12 months were lower than that of rhBMP-2 and group rhbFGF+rhBMP-2(P<0.05), bone mineral density after 6 months, 12 months was higher than that of rhBMP-2 and group calcium phosphate(P<0.05), and anterior edge loss height, anterior edge compression rate of injured vertebra of group rhbFGF+rhBMP-2 after 6 months and 12 months were lower than that of group rhBMP-2 and group calcium phosphate(P<0.05). There was no statistical difference in the incidence of re-fracture among the three groups (P>0.05).@*CONCLUSION@#Bone cement containing rhbFGF and rhBMP-2 could more effectively increase bone mineral density in patients with OVCF, obtain satisfactory clinical and radiological effects after operation, and significantly improve clinical symptoms.

Effect of total flavonoids of Rosa rugosa on PI3K/AKT pathway and endoplasmic reticulum stress apoptosis in rats with cerebral ischemia-reperfusion injury / 中国药理学通报

Aim To investigate the effects of total flavonoids from Rosa rugosa (TFR) on cerebral ischemia reperfusion injury (CIRI) in rats, and to investigate whether TFR inhibited neuronal apoptosis by regulating phosphoinositide 3-kinase/protein kinase B (PI3K/AKT) signaling pathway and endoplasmic reticulum stress (ERS) pathways. Methods SD rats were randomly divided into sham operation group, model group, low-dose group (50 mg · kg

Targeting fibroblast activation protein inhibits endothelial-mesenchymal transition by affecting cancer-associated fibroblasts derived exosomes / 中国药理学通报

Aim To investigate whether targeted inhibition of fibroblast activation protein (FAP) can inhibit the endothelial-to-mesenchymal transition (EndMT) of vascular endothelial cells by affecting exosomes (Exo) of cancer-associated fibroblasts (CAFs) and explore the underlying mechanisms. Methods Primary CAFs and peri-tumor fibroblasts (PTFs) were obtained from lung cancer and peri-cancer tissues, and CAFs-exo and PTFs-exo were collected from culture medium, respectively. Exosomes from CAFs treated with specific FAP inhibitor (3.3 nmol • L-

Evaluation of NG-Test Carba5 for rapid detection of carbapenemases / 中华检验医学杂志

Objective:To evaluate the clinical value of NG-Test Carba5 for rapid detection of carbapenemases produced by carbapenem-resistant Enterobacteriaceae (CRE) strains. Methods:A total of 1 210 CRE strains were collected during 2018-2022 from 77 hospitals in 21 provinces of China and were subjected to NG-Test Carba5 for rapid detection of carbapenemase. The whole genome sequencing (WGS) analysis was referenced as the gold standard method.Results:Overall, the NG-Test Carba5 demonstrated excellent performance in detection of five kinds of carbapenemases [Klebsiella pneumoniae carbapenemase (KPC), New Delhi metallo-β-lactamase (NDM), imipenemase metallo-β-lactamase (IMP), Verona integron-encoded metallo-beta-lactamase (VIM) and oxacillinase-48-type carbapenemases(OXA-48)] from CRE strains, with a sensitivity of 98.47% (1 161/1 179), specificity of 100% (31/31), and positive predictive value of 100% (1 161/1 161). The sensitivity for detection of NDM, IMP, OXA and VIM reached 100% (307/307), and 97.70% (763/781) for KPC. For 11 strains carrying blaKPC-25, blaKPC-78, or blaKPC-93, NG-Test Carba5 reported positive KPC detection (11/11). For strains carrying blaKPC-33 and blaKPC-77, however, NG-Test Carba5 delivered negative results. Additionally, for those strains co-producing two or three kinds of carbapenemases, NG-Test Carba5 was able to report all of the targets with a sensitivity of 100% (91/91). Conclusions:NG-Test Carba5 showed excellent performance in rapid and accurate detection of carbapenemases from CRE strains. Nonetheless, for those strains with negative results, some other phenotypic and genotypic methods should be implemented alongside to avoid missing targets.

Genetic analysis of unexplained neonatal encephalopathy / 中华围产医学杂志

Objective:To explore the potential genetic causes of unexplained neonatal encephalopathy.Methods:This retrospective study enrolled 113 infants diagnosed with unexplained neonatal encephalopathy and underwent genetic testing in the Children's Hospital of Hunan Province from January 2019 to May 2021. Perinatal data, clinical manifestations, electroencephalograph, brain MRI findings, genetic information, and prognosis of those patients were analyzed. T-test or Chi-square test were used for data analysis. Results:Of the 113 infants enrolled, 74 (65.5%) were males. The gestational age at birth was (38.6±1.5) weeks, and the birth weight was (2 957±561) g. The most common clinical manifestation was the disturbance of consciousness (83/113, 73.5%), followed by seizures (39/113, 34.5%). There were 38.2% (34/89) of the patients with abnormal brain MRI, and 80.4% (74/92) presented abnormal electroencephalography. Among the 113 infants, 60 (53.1%) had genetic abnormalities, including 48 with single nucleotide variations, eight with copy number variations, and four with chromosome abnormalities. Single nucleotide variations in the 48 patients were classified into syndromic ( n=18, 37.5%), metabolic ( n=16, 33.3%), epileptic ( n=11, 22.9%) and mitochondrial-related genes ( n=3, 6.3%), of which 14 were not included in any database. Among the 103 cases which were successfully followed up until December 31, 2021, 75 (72.8%) had a poor prognosis, including 52 (50.5%) death cases and 23 (22.3%) cases of development retardation. Birth weight and the incidence of seizures in the poor prognosis group were both lower than those in the non-poor prognosis group [(2 876±536) vs (3 254±554) g, t=3.15; 29.3% (22/75) vs 53.6% (15/28), χ2=5.20; both P<0.05], while the incidence of disturbance of consciousness was higher [80.0% (60/75) vs 53.6% (15/28), χ2=7.19, P<0.05]. The proportion of infants with genetic abnormalities in the poor prognosis group was higher than that in the non-poor prognosis group, but the difference was not statistically significant [53.3% (40/75) vs 46.4% (13/28), χ2=0.39, P=0.533]. Conclusions:Genetic abnormality is one of the leading causes of unexplained neonatal encephalopathy. Nucleotide variation is the most common genetic type. Syndromic, metabolic, and epileptic variants are frequently detected in these patients.

Mutual promotion action between the self-directed learning ability of medical students and the effect of flipped classroom teaching / 中华医学教育探索杂志

Objective:To explore the correlation between the self-directed learning ability of medical students and the effect of flipped classroom teaching.Methods:The questionnaire survey was used. From November to December 2020, 123 students of 5-year program enrolled in 2019 in Peking University Health Science Center were chosen as the study objects and Neurobiology is a required course for them. The Medical Students' Autonomous Learning Ability Assessment Scale (MSALAAS) was used to assess the students' self-directed learning ability. The final examination score and a questionnaire survey were used to assess the teaching effect of the course. Descriptive analysis and Mann-Whitney analysis were used to analyze the change of self-directed learning ability of students after the course. One-dimensional linear regression was used to analyze the influence of self-directed learning ability on the final examination score, course experience and course assessment. Results:The total score of MSALAAS was increased from [(109.84 ± 14.12) points] to [(113.65±15.88) points] ( P<0.05) after the course. If the total score of the MSALAAS was referred to as an independent variant, and the final examination score, the course experience and course assessment was referred to as a dependent variable, respectively. The one-dimensional linear regression analysis showed that the total score of the MSALAAS was correlated with the final examination score ( B=0.248, t=3.59, P<0.001), the course experience ( B=0.049, t=3.15, P=0.002) and course assessment ( B=0.048, t=3.18, P=0.002). Conclusion:Flipped classroom teaching can promote the improvement of the self-directed learning ability of medical students. In converse, the students with higher self-directed learning ability might achieve higher examination score and get the better course experience and assessment.

Risk factors and prognosis of pulmonary hypertension associated with bronchopulmonary dysplasia in extremely preterm infants / 中国新生儿科杂志

Objective:To study the risk factors and prognosis of pulmonary hypertension(PH) associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants(EPIs).Methods:From January 2020 to December 2021, EPIs [gestational age (GA) <32 w] with BPD admitted to NICU of our hospital were retrospectively assigned into two groups: BPD with late-onset PH(PH group) and BPD without late-onset PH(non-PH group). Their general condition, treatment and prognosis were compared and the risk factors of late-onset PH were analyzed.Results:A total of 229 EPIs with BPD were enrolled, including 24(10.5%) in the PH group and 205(89.5%) in the non-PH group. The PH group had significantly smaller GA [(27.9±2.3) w vs. (28.7±1.8) w], longer mechanical ventilation [42.0(16.0, 84.0) d vs. 9.0(2.0, 23.0) d], longer hospital stay [100.5(86.3, 142.0) d vs. 77.0(56.5, 96.5)d],higher incidence of early-onset PH(54.2% vs. 9.3%) and higher mortality rate(33.3% vs. 9.8%) than the non-PH group ( P<0.05). Multivariate logistic regression analysis showed prolonged mechanical ventilation ( OR=1.046, 95% CI 1.011~1.064), early-onset PH ( OR=5.414, 95% CI 1.796~16.323) were independent risk factors for BPD with late-onset PH. 8(33.3%) patients in the PH group died, including 2 with grade Ⅱ BPD and 6 grade Ⅲ BPD. Conclusions:Prolonged mechanical ventilation and early-onset PH are independent risk factors for late-onset PH in BPD infants. BPD infants with late-onset PH have longer hospital stay, higher mortality and worse prognosis.

Application of biological maternal sounds stimulation in mechanically ventilated children with severe pneumonia / 中国实用护理杂志

Objective:To investigate the effect of biological maternal sounds on blood gas analysis index, mechanical ventilation time, oxygen therapy time and hospital stay in mechanically ventilated children with severe pneumonia.Methods:This study was a randomized controlled trial. From June 2020 to November 2020, 128 mechanically ventilated children with severe pneumonia in Hunan Children′s Hospital were selected by convenient sampling method and divided into four groups with 32 cases in each group by random number table method. Group A was given routine nursing care, group B was given mother sounds, group C was given mother cardiotone, group D was given biological maternal sounds. Data of blood gas analysis index, mechanical ventilation duration, oxygen therapy duration, hospital stays were collected for comparative analysis.Results:Finally, group A, B, C, and D included 28, 30, 28 and 28 cases, respectively. There was no statistically significant difference in PaO 2 among the four groups on the 1st to 2nd day after intervention ( P>0.05), but PaO 2 on the 3rd to 7th day after intervention were (75.57 ± 12.88), (77.71 ± 15.81), (78.21 ± 14.51), (78.64 ± 17.71), (79.04 ± 11.57) mmHg (1 mmHg=0.133 kPa), (81.71 ± 17.89), (82.93 ± 18.36), (82.68 ± 15.47), (83.25 ± 14.24), (83.77 ± 13.90) mmHg, (80.89 ± 18.78) (82.11 ± 13.34), (82.96 ± 14.20), (83.43 ± 14.37), (83.68 ± 12.64) mmHg, (84.54 ± 18.77), (86.29 ± 10.94), (86.96 ± 10.53), (87.46 ± 12.64), (89.08 ± 12.21) mmHg, with statistically significant differences ( F values were 41.17 - 332.68, all P<0.01). Further pairwise comparison revealed that PaO 2 in group B and group C were higher than those in group A on the 3rd to 7th day after intervention, while those in group D were higher on the 3rd to 7th day after intervention than those in group A, B, and C, with statistically significant differences( t values were 3.35- 4.75, all P<0.01). There was no statistically significant difference in PaCO 2 among the four groups on the 1st to 4th day after intervention ( P>0.05), but PaCO 2 on the 5th to 7th day after intervention was (47.31 ± 2.89), (46.18 ± 2.06), (41.94 ± 2.09) mmHg, (44.73 ± 1.76), (41.38 ± 1.30), (38.33 ± 1.16) mmHg, (44.81 ± 1.24), (41.23 ± 1.89), (38.73 ± 2.55) mmHg, (40.83 ± 1.78), (37.87 ± 1.43), (34.78 ± 2.05) mmHg, with statistically significant differences ( F=29.48, 36.12, 34.52, all P<0.05). Further pairwise comparison revealed that PaCO 2 in group B and group C were lower than those in group A on the 5th to 7th day after intervention, while PaCO 2 in group D were lower than those in groups A, B, and C, with statistically significant differences ( t values were 3.37-4.85, all P<0.01). During the analysis of PaO 2 and PaCO 2 in the four groups at different time points, the interaction effects were not statistically significant ( P>0.05). There was no significant difference in invasive mechanical ventilation duration, non-invasive mechanical ventilation duration and hospital stay among the four groups after intervention ( P>0.05). The oxygen therapy time of the four groups were (8.61 ± 6.40), (6.17 ± 4.80), (6.23 ± 2.75), and (3.75 ± 2.10) days, with statistically significant differences ( F=17.27, P<0.01). Further pairwise comparison revealed that the oxygen therapy time in group B and group C was shorter than that in group A, while group D was significantly shorter than that in groups A, B, and C, with statistically significant differences ( t values were 4.02-4.74, all P<0.01). Conclusions:Biological maternal sounds is superior to maternal sound and mother cardiotone in improve the blood gas analysis index, shorten the oxygen treatment time, which is worthy of clinical promotion in neonatal unaccompanied ward.

Progress in arthroscopic surgery for injury of superior labrum anterior posterior of shoulder joint / 中国骨伤

Superior labrum anterior posterior (SLAP) injury is a major challenge for orthopedic surgeons, due to the poor healing ability of the injured labrum. Although arthroscopic surgery is the gold standard for the treatment of SLAP injury, there are still disputes about the adaptation of different surgical techniques, the choice of anchors during operation, knotted or knotless anchors, and fixation methods. The authors believe that arthroscopic repair of SLAP lesions is effective for young patients with intact glenoid labrum(<35 years old) or with extensive activity, where single and knotless anchor is preferred. For the older patients(≥35 years old) with degeneration and wear of glenoid labrum, biceps tenodesis is more preferable, and interference screw fixation technique is recommended. As for patients with failed SLAP repair, biceps tenodesis can achieve a high success rate as a revision surgery. By review of the relevant literature in recent years, this paper summarizes the adaptation of different surgical methods of arthroscopic treatment of SLAP injury, intraoperative anchoring techniques, fixation methods and other improved surgical techniques.

Clinical application of special fluoroscopy method in the treatment of distal radius fractures with volar locking plate / 中国骨伤

OBJECTIVE@#The relationship between the distal screws and the wrist articular surface was assessed by the additional lateral oblique fluoroscopic view during the operation, and the dorsal tangential view of the wrist was used to observe whether the distal screw penetrated the dorsal cortex, so as to evaluate the clinical efficacy of the volar locking plate in the treatment of distal radius fractures.@*METHODS@#From January 2020 to June 2021, 45 cases of fresh distal radius fractures were treated using the volar Henry's approach, including 20 males and 25 females, aged from 32 to 75 years old with an average of (52.4±8.1) years old. During the operation, they were divided into 2 groups according to the different intraoperative fluoroscopic views:the control group of 20 cases, treated with standard anteroposterior and lateral fluoroscopic view;25 cases in the observation group, additional lateral oblique fluoroscopic view and dorsal tangential view of the wrist were taken. The wrist joint function score and postoperative complications were evaluated at 6 weeks, 3 and 6 months after operation between two groups.@*RESULTS@#All 45 patients were followed up and the duration ranged from 6 to 14 months, with an average of (10.8±1.7) months, all patients achieved bone union and the incision healed well. The incidence of postoperative complications in the observation group was lower than that in the control group, and the difference was statistically significant (P<0.05). In terms of Gartland-Werley score of wrist joint function, the score of wrist function in the observation group was (4.58±1.31) at 6 weeks, (2.98±0.63) at 3 months and (1.95±0.65) at 6 months post-operatively, which were better than those in the control group (6.32±1.96) at 6 weeks, (3.63±0.76) at 3 months and (2.43±0.73) at 6 months. The difference was statistically significant (P<0.05). In the observation group, 7/25 cases(28%) were found to have screw penetration during the operation by additional lateral oblique and dorsal tangential radiograph fluoroscopic views of wrist.@*CONCLUSION@#The addition of lateral oblique and dorsal tangential during the operation could improve the accuracy of distal screw placement, reduce postoperative complications, and achieve early functional exercise.

Peripherally inserted central venous catheter-related thrombosis in a neonate / 中国当代儿科杂志

The female infant in this case study was admitted to the hospital 4 hours after birth due to preterm birth and respiratory distress. On the third day after birth, peripherally inserted central venous catheter (PICC) catheterization was performed. On day 42, thrombus was found at the entrance of the right atrium from the inferior vena cava during a cardiac ultrasound, and it was considered to be related to PICC placement. Low-molecular-weight heparin and urokinase were given. After two weeks of treatment, ultrasonic monitoring showed thrombus shrinkage. No bleeding or pulmonary embolism occurred during the treatment. The patient discharged after improvement. This article mainly introduces a multidisciplinary team approach to diagnosis and treatment of PICC-related thrombosis in neonates.

Free sialic acid storage disorders with fetal hydrops in a neonate / 中国当代儿科杂志

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.

Neonate-onset ornithine transcarbamylase deficiency / 中国当代儿科杂志

The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.

Genetic analysis of a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11) / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11).@*METHODS@#A pregnant woman who had visited the Birth Health Clinic of Lianyungang Maternal and Child Health Care Hospital on May 22, 2021 was selected as the study subject. Clinical data of the woman was collected. Peripheral blood samples of the woman and her husband and umbilical cord blood of the fetus were collected and subjected to conventional G-banded chromosomal karyotyping analysis. Fetal DNA was also extracted from amniotic fluid sample and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#For the pregnant women, ultrasonography at 25th gestational week had revealed permanent left superior vena cava and mild mitral and tricuspid regurgitation. G-banded karyotyping analysis showed that the pter-q11 segment of the fetal Y chromosome was connected to the Xq26 of the X chromosome, suggesting a Xq-Yq reciprocal translocation. No obvious chromosomal abnormality was found in the pregnant woman and her husband. The CMA results showed that there was approximately 21 Mb loss of heterozygosity at the end of the long arm of the fetal X chromosome [arr [hg19] Xq26.3q28(133912218_154941869)×1], and 42 Mb duplication at the end of the long arm of the Y chromosome [arr [hg19] Yq11.221qter(17405918_59032809)×1]. Combined with the search results of DGV, OMIM, DECIPHER, ClinGen and PubMed databases, and based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the deletion of arr[hg19] Xq26.3q28(133912218_154941869)×1 region was rated as pathogenic, and the duplication of arr[hg19] Yq11.221qter(17405918_59032809)×1 region was rated as variant of uncertain significance.@*CONCLUSION@#The Xq-Yq reciprocal translocation probably underlay the ultrasonographic anomalies in this fetus, and may lead to premature ovarian insufficiency and developmental delay after birth. Combined G-banded karyotyping analysis and CMA can determine the type and origin of fetal chromosomal structural abnormalities as well as distinguish balanced and unbalanced translocations, which has important reference value for the ongoing pregnancy.

Research progress of optical motion capture technology in shoulder biomechanics / 中国骨伤

The shoulder joint is the most flexible joint in the body with the largest range of motion, and the movement pattern is more complex. Accurate capture of three-dimensional motion data of the shoulder joint is crucial for biomechanical evaluation. Optical motion capture systems offer a non-invasive and radiation-free method to capture shoulder joint motion data during complex movements, enabling further biomechanical analysis of the shoulder joint. This review provides a comprehensive overview of optical motion capture technology in the context of shoulder joint movement, including measurement principles, data processing methods to reduce artifacts from skin and soft tissues, factors influencing measurement results, and applications in shoulder joint disorders.

Neoadjuvant chemotherapy in the treatment of locally advanced olfactory neuroblastoma in 25 cases / 中华耳鼻咽喉头颈外科杂志

Objective: To evaluate the efficacy of neoadjuvant chemotherapy (NACT) in the treatment of locally advanced olfactory neuroblastoma (ONB), and to explore the factors related to the efficacy of NACT. Methods: A total of 25 patients with ONB who underwent NACT in Beijing TongRen Hospital from April 2017 to July 2022 were retrospectively analyzed. There were 16 males and 9 females, with an average age of 44.9 years (ranged 26-72 years). There were 22 cases of Kadish stage C and 3 cases of stage D. After multiple disciplinary team(MDT) discussion, all patients were treated sequentially with NACT-surgery-radiotherapy. Among them, 17 cases were treated with taxol, cis-platinum and etoposide (TEP), 4 cases with taxol, nedaplatin and ifosfamide (TPI), 3 cases with TP, while 1 case with EP. SPSS 25.0 software was used for statistical analysis, and survival analyses were calculated based on the Kaplan-Meier method. Results: The overall response rate of NACT was 32% (8/25). Subsequently, 21 patients underwent extended endoscopic surgery and 4 patients underwent combined cranial-nasal approach. Three patients with stage D disease underwent cervical lymph node dissection. All patients received postoperative radiotherapy. The mean follow-up time was 44.2 months (ranged 6-67 months). The 5-year overall survival rate was 100.0%, and the 5-year disease-free survival rates was 94.4%. Before NACT, Ki-67 index was 60% (50%, 90%), while Ki-67 index was 20% (3%, 30%) after chemotherapy [M (Q1, Q3)]. The change of Ki-67 before and after NACT was statistically significant (Z=-24.24, P<0.05). The effects of age, gender, history of surgery, Hyams grade, Ki-67 index and chemotherapy regimen to NACT were analyzed. Ki-67 index≥25% and high Hyams grade were related to the efficacy of NACT (all P<0.05). Conclusions: NACT could reduce Ki-67 index in ONBs. High Ki-67 index and Hyams grade are clinical indicators sensitive to the efficacy of NACT. NACT-surgery-radiotherapy is effective for patients with locally advanced ONB.

Early death and causes of death of patients with autism spectrum disorders: A systematic review / 北京大学学报(医学版)

To study of premature/early death of autistic patients from the perspective of life course can help families, medical institutions and policy makers better deal with the adverse effects of autism. Several studies have shown that autistic patients have a high risk of death, however, the results are still inconsistent. To assess the risk of mortality among the autistic patients, we undertook a comprehensive search of MEDLINE, Web of Science and EMBASE databases. This paper reviewed the studies on the negative disease outcomes of autism spectrum disorders, including the risk of death, causes of death and several research hotspots in this field. Strict inclusion/exclusion criteria were used. Information was extracted from selected papers, tabulated and synthesized. In the study, 15 studies were included, with a total of 216 045 individuals. The main outcome was all-cause mortality in association with autism and the secondary outcome was cause-specific mortality. The results showed that all-cause mortality was higher for the autistic patients (RR=2.32, 95%CI: 1.98-2.72, I2=87.1%, P < 0.001). Risk ratio showed a greater inequality for female than male (male: RR=2.00, 95%CI: 1.57-2.55, I2=93.2%, P < 0.001; female: RR=4.66, 95%CI: 3.30-6.58, I2=92.0%, P < 0.001). Compared with the unnatural death, the risk of natural death was higher (RR=3.44, 95%CI: 1.27-9.26, I2=80.2%, P=0.025). As autism had many comorbidities, which would bring more health risks and natural deaths possibilities. There were some structural differences in unnatural death. Accidental injury death and suicide were two kinds of causes. Lacking social skills would weaken the ability to ask for help when encountering injuries. This paper put forward some suggestions for futures. First, to well study the comorbidity can reduce the risk of death from a medical point of view. Second, the scientists and policymakers should pay attention to the social environment and provide a safer environment for the autistic patients. Third, for women and for adolescents without cognitive impairment, due to their high risk of suicide, the society should provide them with more supportive social networks and improve their life satisfaction. Fourth, it is necessary to balance the rehabilitation resources in various regions in China and provide more high-quality lifelong rehabilitation monitoring and care services.

Clinical Features and Prognostic Factors of Patients with Primary Cutaneous Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To retrospectively analyze the clinical characteristics and prognostic factors of patients with primary cutaneous lymphoma.@*METHODS@#The clinical data of 22 patients with primary cutaneous lymphoma admitted to Xinjiang Hotan District People's Hospital, Heji Hospital affiliated to Changzhi Medical College and the Fifth Medical Center of PLA General Hospital from January 2013 to June 2021 were retrospectively analyzed.@*RESULTS@#The incidence of primary cutaneous T cell and NK/T cell lymphoma was about 91.9/100 000, and the incidence of primary cutaneous B cell lymphoma was about 14.5/100 000. The overall survival (OS) of patients aged ≥65 years was significantly shorter than that of patients younger than 65 years (P <0.05). Patients with elevated β2-microglobulin (β2-MG) had shorter OS and progression-free survival (PFS) (both P <0.05). Patients who achieved complete/partial response after initial treatment had longer OS than those with stable or progressive disease (P <0.05). There were significant differences in OS and PFS among patients with different pathological types of primary cutaneous lymphoma that originated from T and NK/T cells, the OS and PFS of patients with mycosis fungoides were longer than those of patients with other pathological types (both P <0.05). In addition, disease stage might also affect the PFS of the patients (P =0.056).@*CONCLUSION@#The age, disease stage, β2-MG level, pathological type and remission state after treatment of the patients were related to the clinical prognosis.