简介：AbstractIntroduction:Eruptive cutaneous collagenoma is non familial connective tissue nevi of unknown etiology presented with an abrupt onset. To date, the literatures on eruptive cutaneous collagenoma are extremely rare in china.Here, we report two women with eruptive cutaneous collagenoma.Case present:Two women presented with multiple asymptomatic, skin-colored papules and nodules on the trunk and extremities with no systemic involvement. Histopathology revealed dense, coarse collagen fibers by hematoxylin-esoin stain and decreased, fragmented elastic fibers by Elastic stain compared with the normal skin. Basing on these findings, the diagnosis of eruptive cutaneous collagenoma was made. No specific treatment was given.Discussion:Eruptive cutaneous collagenoma is a very rare dermatosis that is often misdiagnosed as other connective tissue nevi. The pathogenesis is unclear, and also no efficient treatment is available. It is usually diagnosed based on clinical and histopathological findings.Conclusion:The present cases are relatively rare type of eruptive cutaneous collagenoma that provide more experience for clinician, and may be helpful for them to make correct diagnosis for suspicious cases.

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简介：AbstractTwo cases of type II odontoid fractures were reported to share our experience in surgery treatment of such cases. A 33-year-old woman with comminuted type II odontoid fracture and a 42-year-old man with fracture end hardened type II odontoid fracture received surgical treatment in our hospital. Though imaging examination suggested that these two patients were suitable for anterior screw fixation, we encountered difficulties during the operation. The two patients eventually underwent posterior C1-C2 fusion surgery and recovered well. According to the experience of these two cases, we found that the fracture line angle and the degree of comminution are two important factors affecting surgical decision-making. Although anterior screw fixation is the ideal choice for type II odontoid fractures with anterior superior to posterior inferior fracture line, it may not be the best choice for comminuted or fracture end hardened type II odontoid fractures.

简介：AbstractIntroduction:Postherpetic neuralgia (PHN) is a painful condition that occurs after herpes zoster skin lesions have subsided and that lasts for more than 1 month. PHN is usually difficult to treat.We herein present two cases of PHN comorbid with spinal metastasis of a malignant tumor. Both patients responded well to an epidural block.Case presentation:Patient 1 was a 54-year-old woman who had PHN for 35 days. Patient 2 was a 74-year-old woman who had PHN for 65 days. Both patients were treated with an epidural block and found to have spinal metastasis from a malignant tumor.Discussion:The routinely used dermatological medications for the treatment of herpes zoster and PHN have slow and unsatisfactory analgesic effects. Epidural block treatment provides a new approach for patients who cannot tolerate or do not respond to these commonly used drugs. Physicians should pay special attention to patients who have a history of a malignant tumor or are suspected to have spinal disease. Computed tomography or magnetic resonance imaging of the spine is recommended for such patients, and epidural block treatment should be performed after a spinal tumor or other lesions have been excluded.Conclusion:Epidural block treatment provides a new approach for patients of herpes zoster or PHN, but the treatment should be performed after a spinal tumor or other spinal lesions have been excluded.

简介：AbstractObjective:Biallelic mutations in the RecQ like helicase (RECQL) 4 gene, a guardian of the genome, cause Rothmund-Thomson syndrome type II (RTS-II). Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected. DNA isolation, RNA isolation and complementary DNA synthesis, and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causative RECQL4 gene.Results:We analyzed two patients with mild phenotypes. One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T (p.R758X), both resulting in premature termination codons. The other patient carried two novel alterations, c.2886-1G>A and c.2752G>T (p.E918X). Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenic RECQL4 variants in two patients with RTS, thus expanding the mutational spectrum of RTS-II. We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.

简介：AbstractBackground:IgG4-related hypertrophic pachymeningitis is a relative newly recognized and rare manifestation of IgG4-related disease, an immune-mediated fibroinflammatory tumefactive disorder. Fewer than 80 patients have been reported in the literature, and it can mimic common neurosurgical conditions. We describe the clinical presentation of two patients that were initially considered to have a subdural collection, tuberculous meningitis, and a cervical spinal meningioma, but were eventually diagnosed with this disease.Case presentation:Two ethnic Chinese men, 86 and 62 years old, experienced a 4-week history of headache. Both patients had a history of autoimmune disease, namely glomerulonephritis and Grave's disease, respectively. Magnetic resonance brain imaging revealed diffuse dural thickening with the latter patient exhibiting homogeneous and intense gadolinium-contrast enhancement. Since the 86-year-old patient also had progressive bilateral visual loss, giant cell arteritis was suspected and a 2-week course of glucocorticoid therapy was prescribed, but his symptoms failed to improve. The 62-year-old patient also had accompanying low-grade fever and was treated empirically as having tuberculous meningitis although there were no confirmatory microbiological findings. This patient further developed right hemiparesis, and additional imaging revealed a C4/5 intradural-extramedullary contrast-enhancing lesion resembling a meningioma causing cord compression. Both patients underwent neurosurgical intervention with the former undergoing a dural biopsy and the latter having the cervical lesion resected. The final diagnosis was IgG4-related hypertrophic pachymeningitis with the hallmark histological features of lymphoplasmacytic infiltration of IgG4+ plasma cells, storiform fibrosis, and obliterative phlebitis. In addition, their serum IgG4 levels were elevated (i.e., > 135 mg/dL). Both patients received at least 6 months of glucocorticoid therapy while the latter also had azathioprine. Their symptoms improved significantly and recurrent lesions were not detected on follow-up imaging.Conclusions:A high index of suspicion for this condition is suggested when a male patient with a history of autoimmune disease and compatible radiological findings, experiences subacute headache that is disproportionate to the degree of dural involvement. Neurosurgeons should consider early meningeal biopsy to establish a definitive histological diagnosis in order for early effective immunosuppressive treatment to be initiated and to avoid unnecessary morbidity.

简介：AbstractBackground:IgG4-related hypertrophic pachymeningitis is a relative newly recognized and rare manifestation of IgG4-related disease, an immune-mediated fibroinflammatory tumefactive disorder. Fewer than 80 patients have been reported in the literature, and it can mimic common neurosurgical conditions. We describe the clinical presentation of two patients that were initially considered to have a subdural collection, tuberculous meningitis, and a cervical spinal meningioma, but were eventually diagnosed with this disease.Case presentation:Two ethnic Chinese men, 86 and 62 years old, experienced a 4-week history of headache. Both patients had a history of autoimmune disease, namely glomerulonephritis and Grave's disease, respectively. Magnetic resonance brain imaging revealed diffuse dural thickening with the latter patient exhibiting homogeneous and intense gadolinium-contrast enhancement. Since the 86-year-old patient also had progressive bilateral visual loss, giant cell arteritis was suspected and a 2-week course of glucocorticoid therapy was prescribed, but his symptoms failed to improve. The 62-year-old patient also had accompanying low-grade fever and was treated empirically as having tuberculous meningitis although there were no confirmatory microbiological findings. This patient further developed right hemiparesis, and additional imaging revealed a C4/5 intradural-extramedullary contrast-enhancing lesion resembling a meningioma causing cord compression. Both patients underwent neurosurgical intervention with the former undergoing a dural biopsy and the latter having the cervical lesion resected. The final diagnosis was IgG4-related hypertrophic pachymeningitis with the hallmark histological features of lymphoplasmacytic infiltration of IgG4+ plasma cells, storiform fibrosis, and obliterative phlebitis. In addition, their serum IgG4 levels were elevated (i.e., > 135 mg/dL). Both patients received at least 6 months of glucocorticoid therapy while the latter also had azathioprine. Their symptoms improved significantly and recurrent lesions were not detected on follow-up imaging.Conclusions:A high index of suspicion for this condition is suggested when a male patient with a history of autoimmune disease and compatible radiological findings, experiences subacute headache that is disproportionate to the degree of dural involvement. Neurosurgeons should consider early meningeal biopsy to establish a definitive histological diagnosis in order for early effective immunosuppressive treatment to be initiated and to avoid unnecessary morbidity.

简介：AbstractObjective:The impact of dairy fat on inflammatory bowel disease remained inconclusive. We aimed to compare the effects of whole-milk and skimmed-milk consumption on the risk of inflammatory bowel disease using a Mendelian randomization analysis.Methods:We conducted a genome-wide association study of the preference for whole versus skimmed milk using data for 20,200 whole-milk consumers and 67,847 skimmed-milk consumers from the UK Biobank. The lead single nucleotide polymorphisms in the associated loci were identified at the genome-wide significance level, and were further employed as instrumental variables for whole-milk preference. We conducted a two-sample Mendelian randomization analysis with whole-milk preference as the exposure and inflammatory bowel disease as the outcome. The pleiotropic effects and heterogeneity of the instrumental variables were estimated using Mendelian randomization-Egger regression and Cochran Q test, respectively. This study was conducted using the UKB resources under the application "53536" . The UK Biobank was approved by the North West Multi-center Research Ethics Committee, the National Information Governance Board for Health and Social Care in England and Wales, and the Community Health Index Advisory Group in Scotland.Results:The genome-wide association study identified five lead nucleotide polymorphisms associated with whole-milk preference. Mendelian randomization indicated that whole-milk preference significantly decreased the risk of inflammatory bowel disease (β=-1.735, P=0.048). Of the two subtypes, whole-milk preference was associated with a lower risk of Crohn disease (β=-2.549, P=0.032), but had no significant effect on the risk of ulcerative colitis (β=-1.002, P=0.44).Conclusion:Consumption of whole-milk fat may protect against Crohn disease, compared with skimmed milk. This conclusion was based on causal inference in a cohort study, and further validation in randomized controlled trials is warranted.

简介：AbstractWe reported two cases of jockeys who sustained fracture/dislocation of the mid-thoracic spine due to traumatic falls during horse racing. We examined the injury mechanism based upon the patients’ diagnostic images and video footage of races, in which the accidents occurred. Admission imaging of patient 1 (a 42 years old male) revealed T5 burst fracture with bony retropulsion of 7 mm causing complete paralysis below T5/6. There existed 22° focal kyphosis at T5/6, anterolisthesis of T5 relative to T6, T5/6 disc herniation, cord edema and epidural hemorrhage from T4 through T6, and cord injury from C3 through C6. Admission imaging of patient 2 (a 23 years old male) revealed T4/5 fracture/dislocation causing incomplete paralysis below spinal level. There existed compression fractures at T5, T6, and T7; 4 mm anterior subluxation of T4 on T5; diffuse cord swelling from T3 through T5; comminuted fracture of the C1 right lateral mass; right frontal traumatic subarachnoid hemorrhage; and extensive diffuse axonal injury. The injuries were caused by high energy flexion-compression of the mid-thoracic spine with a flexed posture upon impact. Our results suggest that substantially greater cord compression occurred transiently during trauma as compared to that documented from admission imaging. Video footage of the accidents indicated that the spine buckled and failed due to abrupt pocketing and deceleration of the head, neck and shoulders upon impact with the ground combined with continued forward and downward momentum of the torso and lower extremities. While a similar mechanism is well known to cause fracture/dislocation of the cervical spine, it is less common and less understood for mid-thoracic spine injuries. Our study provides insight into the etiology of fracture/dislocation patterns of the mid-thoracic spine due to falls during horse racing.

简介：AbstractHepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease. To inform genetic counseling in a family with two affected GSD brothers, we performed a genetic analysis. The GSD in the older brother was confirmed by histological examination of a liver biopsy, which showed glycogen accumulation in liver cells. A liver biopsy was not available from the younger brother. The two patients and their parents were analyzed by whole exome sequencing. A pathogenic mutation in a gene encoding a regulatory subunit of PhK, PHKA2 located on chromosome Xp22, was identified as c.G3373A (p.E1125K) and confirmed by Sanger sequencing. The proband’s maternal grandparents and the brothers and sisters of the proband’s maternal grandfather were physically examined and genetically tested by Sanger sequencing. Pedigree analysis showed that the mother was a carrier and that the two patients inherited the mutation from their undiagnosed maternal grandfather. Moreover, among the maternal grandfather and four granduncles, three of them possessed the same mutation and four suffered from fatty liver. This is the first report of this mutation causing X-linked liver glycogenosis in a Chinese family and shows that GSD IXa is a mild form of glycogenosis in terms of clinical symptoms, indicating that GSD may be undiagnosed or underestimated. Nevertheless, to provide appropriate intervention and genetic counseling, early identification of the genetic cause is imperative. This study was approved by the Ethics Committee of First Affiliated Hospital, Hunan University of Chinese Medicine (approval No. HN-LL-ZFKY-2018-001-01) on January 12, 2018.

简介：AbstractBackground:Norepinephrine infusion decreases hypotension after spinal anesthesia during cesarean section. This study aimed to compare the efficacy of norepinephrine infusion and ephedrine bolus against post-spinal hypotension in parturients.Methods:In this double-blinded, randomized controlled clinical trial, parturients scheduled for elective cesarean section were randomly allocated to receive norepinephrine infusion (0.05 μg·kg-1·min-1) just before spinal anesthesia continuing for 30 min or ephedrine bolus (0.15 mg/kg) just before spinal anesthesia. A rescue bolus (5 μg norepinephrine for the norepinephrine group, and 5 mg ephedrine for the ephedrine group) was administered whenever hypotension occurred. Our primary outcome was the incidence of hypotension within 30 min of spinal anesthesia administration. Secondary outcomes included maternal and neonatal outcomes 30 min after spinal block, and neonatal cerebral oxygenation 10 min after birth.Results:In total, 190 patients were enrolled; of these patients, 177 were included in the final analysis. Fewer patients suffered hypotension in the norepinephrine group than in the ephedrine group (29.5% vs. 44.9%, odds ratio [OR]: 0.51, 95% confidence interval [CI]: 0.28-0.95, P = 0.034). Moreover, the tachycardia frequency was lower in the norepinephrine group than in the ephedrine group (OR: 0.22, 95% CI: 0.11-0.44, P < 0.001), and patients suffered less nausea and vomiting (OR: 0.28, 95% CI: 0.11-0.70, P = 0.004). There was no difference in Apgar scores and umbilical arterial blood gas analysis between the two groups. However, neonatal cerebral regional saturations were significantly higher after birth in the norepinephrine group than in the ephedrine group (mean difference: 2.0%, 95% CI: 0.55%-3.45%, P = 0.008).Conclusion:In patients undergoing elective cesarean section with spinal anesthesia, norepinephrine infusion compared to ephedrine bolus resulted in less hypotension and tachycardia, and exhibited potential neonatal benefits.Trial Registration:ClinicalTrials.gov, NCT02542748; https://clinicaltrials.gov/ct2/show/record/NCT02542748

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简介：AbstractInfluenza A (H3N2) virus has a faster evolution rate than other types of influenza viruses. In this study, whole genome sequencing was performed to better understand the molecular evolution of influenza H3N2 and the protective effect of influenza virus vaccine in Qinghai Province, China, in 2017. Complete sequences of eight gene segments of two seasonal influenza H3N2 isolates were sequenced and analyzed using DNASTAR and MEGA 6.06 software. Additionally, the three-dimensional structure of the HA protein was predicted using the SWISS-MODEL server. Phylogenetic and amino acid sequence analysis revealed that two Qinghai H3N2 isolates were typical low-pathogenic influenza viruses, and were relatively closely related to the 2016-2017 vaccine strain, 3C.2a-A/Hong Kong/4801/2014. The presence of several antigenic site substitutions (T131K, G/R142K, K160T and R261Q in the HA protein) were specific for the two Qinghai H3N2 virus strains. In addition, amino acid substitution of K160T at the glycosylation site of HA and H75P in PB1-F2 in Qinghai isolates might affect the antibody binding ability and virulence of the influenza virus. The presence of several antigenic site mutations in the Qinghai H3N2 isolates confirmed the evolution of circulating H3N2 strains.

简介：AbstractThe management of preterm prelabor rupture of membranes (PPROM) before 34 weeks of gestation is intractable, due to pulmonary immaturity, many complications, poor pregnancy outcomes. In particular, the pre-viable PPROM (<23 weeks of gestation) is much more difficult to be treated. The clinical recommendation is to terminate the pregnancy as soon as possible. The pregnancy outcomes of PPROM in the early second-trimester of two twin pregnant women in our hospital were reported to explore the treatment protocols. The pregnancies of the two women developed PROM at 12 and 16 weeks of gestation, respectively. After expectant treatment, they were deliveried successfully at 34+6 and 34+4 weeks of gestation, respectively. The assessment of growth and development of infants was normal during the following six months after birth. Therefore, if PPROM occurs in the early second-trimester of pregnancy, the management of PPROM should be individualized, it’s a long process which should include comprehensive communication between patients and families regarding alternative treatment options (including expectant management) and risks and benefits of the procedure. In the absence of spontaneous labor or occurrence of complications that would prompt delivery (intra-amniotic infection, abruptio placenta, cord prolapse), and fetal status is normal, the patients should proceed with expectant treatment, induction of labor is commonly performed in pregnancies with PPROM ≥34 weeks of gestation.

简介：AbstractBackground:The current deep learning diagnosis of breast masses is mainly reflected by the diagnosis of benign and malignant lesions. In China, breast masses are divided into four categories according to the treatment method: inflammatory masses, adenosis, benign tumors, and malignant tumors. These categorizations are important for guiding clinical treatment. In this study, we aimed to develop a convolutional neural network (CNN) for classification of these four breast mass types using ultrasound (US) images.Methods:Taking breast biopsy or pathological examinations as the reference standard, CNNs were used to establish models for the four-way classification of 3623 breast cancer patients from 13 centers. The patients were randomly divided into training and test groups (n = 1810 vs. n = 1813). Separate models were created for two-dimensional (2D) images only, 2D and color Doppler flow imaging (2D-CDFI), and 2D-CDFI and pulsed wave Doppler (2D-CDFI-PW) images. The performance of these three models was compared using sensitivity, specificity, area under receiver operating characteristic curve (AUC), positive (PPV) and negative predictive values (NPV), positive (LR+) and negative likelihood ratios (LR-), and the performance of the 2D model was further compared between masses of different sizes with above statistical indicators, between images from different hospitals with AUC, and with the performance of 37 radiologists.Results:The accuracies of the 2D, 2D-CDFI, and 2D-CDFI-PW models on the test set were 87.9%, 89.2%, and 88.7%, respectively. The AUCs for classification of benign tumors, malignant tumors, inflammatory masses, and adenosis were 0.90, 0.91, 0.90, and 0.89, respectively (95% confidence intervals [CIs], 0.87-0.91, 0.89-0.92, 0.87-0.91, and 0.86-0.90). The 2D-CDFI model showed better accuracy (89.2%) on the test set than the 2D (87.9%) and 2D-CDFI-PW (88.7%) models. The 2D model showed accuracy of 81.7% on breast masses ≤1 cm and 82.3% on breast masses >1 cm; there was a significant difference between the two groups (P < 0.001). The accuracy of the CNN classifications for the test set (89.2%) was significantly higher than that of all the radiologists (30%).Conclusions:The CNN may have high accuracy for classification of US images of breast masses and perform significantly better than human radiologists.Trial registration:Chictr.org, ChiCTR1900021375; http://www.chictr.org.cn/showproj.aspx?proj=33139.

简介：AbstractBackground:One inevitable shortcoming of non-invasive prenatal screening (NIPS)/cell-free DNA (cfDNA) sequencing is the uninterpretable ( "no-call" ) result, which is mainly caused by an insufficient fetal fraction. This study was performed to investigate the factors associated with a successful second NIPS in these cases and determine the optimal management for women with initial no-call results.Methods:We retrospectively analyzed the data of women who underwent NIPS with initial no-call results due to an insufficient fetal fraction from 2017 to 2019 in our center. We compared these women’s maternal and pregnancy information with the data of women who had attained a successful second NIPS result and women who had received no-call results for a second time.Results:Among the 33,684 women who underwent NIPS, 137 with a no-call result underwent a retest. Comparison between the 87 (63.50%) women with a successful retest and the other 50 (36.50%) women showed a significant difference in both the initial fetal fraction and maternal body mass index (BMI), whereas the other factors showed no significant differences. In addition, with an initial fetal fraction of < 2.00%, the retest success rate was very limited.Conclusions:We identified two major factors associated with a successful NIPS retest: the initial fetal fraction and the maternal BMI. These findings suggest the need for specialized management for this subset of women and would be instructional for the counseling for these women.

简介：AbstractBackground:Emerging evidence indicates that the sineoculis homeobox homolog 1-eyes absent homolog 1 (SIX1-EYA1) transcriptional complex significantly contributes to the pathogenesis of multiple cancers by mediating the expression of genes involved in different biological processes, such as cell-cycle progression and metastasis. However, the roles of the SIX1-EYA1 transcriptional complex and its targets in colorectal cancer (CRC) are still being investigated. This study aimed to investigate the roles of SIX1-EYA1 in the pathogenesis of CRC, to screen inhibitors disrupting the SIX1-EYA1 interaction and to evaluate the efficiency of small molecules in the inhibition of CRC cell growth.Methods:Real-time quantitative polymerase chain reaction and western blotting were performed to examine gene and protein levels in CRC cells and clinical tissues (collected from CRC patients who underwent surgery in the Department of Integrated Traditional and Western Medicine, West China Hospital of Sichuan University, between 2016 and 2018, n = 24). In vivo immunoprecipitation and in vitro pulldown assays were carried out to determine SIX1-EYA1 interaction. Cell proliferation, cell survival, and cell invasion were determined using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, clonogenic assay, and Boyden chamber assay, respectively. The Amplified Luminescent Proximity Homogeneous Assay Screen (AlphaScreen) method was used to obtain small molecules that specifically disrupted SIX1-EYA1 interaction. CRC cells harboring different levels of SIX1/EYA1 were injected into nude mice to establish tumor xenografts, and small molecules were also injected into mice to evaluate their efficiency to inhibit tumor growth.Results:Both SIX1 and EYA1 were overexpressed in CRC cancerous tissues (for SIX1, 7.47 ± 3.54 vs.1.88 ± 0.35, t = 4.92, P = 0.008; for EYA1, 7.61 ± 2.03 vs. 2.22 ± 0.45, t = 6.73, P = 0.005). The SIX1/EYA1 complex could mediate the expression of two important genes including cyclin A1 (CCNA1) and transforming growth factor beta 1 (TGFB1) by binding to the myocyte enhancer factor 3 consensus. Knockdown of both SIX1 and EYA1 could decrease cell proliferation, cell invasion, tumor growth, and in vivo tumor growth (all P < 0.01). Two small molecules, NSC0191 and NSC0933, were obtained using AlphaScreen and they could significantly inhibit the SIX1-EYA1 interaction with a half-maximal inhibitory concentration (IC50) of 12.60 ± 1.15 μmol/L and 83.43 ± 7.24 μmol/L, respectively. Administration of these two compounds could significantly repress the expression of CCNA1 and TGFB1 and inhibit the growth of CRC cells in vitro and in vivo.Conclusions:Overexpression of the SIX1/EYA1 complex transactivated the expression of CCNA1 and TGFB1, causing the pathogenesis of CRC. Pharmacological inhibition of the SIX1-EYA1 interaction with NSC0191 and NSC0933 significantly inhibited CRC cell growth by affecting cell-cycle progression and metastasis.