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Diabetes Mellitus , Saúde Global , Medicina de Precisão , Humanos , Diabetes Mellitus/terapiaRESUMO
Thalassemia trait is an autosomal recessive genetic disease, which is a hemolytic anemia caused by disturbance of erythrocyte hemoglobin production caused by gene mutation or deletion. Iron deficiency anemia is caused by a lack of iron in the body due to an imbalance between the demand and supply of iron. The laboratory manifestations of both are microcytic hypochromic anemia, but the treatment schemes are completely different, and it is difficult to distinguish them from the results of blood count. Erythrocyte parameters can be used to establish a formula or model to differentiate them, which can achieve the purpose of early screening, early diagnosis and early treatment,preventing the occurrence of severe anemia and providing a scientific basis for the thalassemia and iron deficiency anemia prevention. This article will review the research progress of using erythrocyte parameters to distinguish thalassemia trait with iron deficiency anemia.
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Anemia Ferropriva , Talassemia , Talassemia beta , Humanos , Anemia Ferropriva/diagnóstico , Diagnóstico Diferencial , Talassemia beta/diagnóstico , Eritrócitos , Talassemia/diagnóstico , Talassemia/genética , FerroRESUMO
Objective: To analyze dynamic functional connectivity (dFNC) states and influencing factors of brain network in male patients with obstructive sleep apnea (OSA). Methods: A total of 111 male patients diagnosed with obstructive sleep apnea or presenting with simple snoring, who visited the Sleep Clinic at the Second Affiliated Hospital of Soochow University between August 2020 and December 2021, were prospectively selected for this study. General information was collected, and polysomnography (PSG) was performed. Based on the oxygen desaturation index (ODI), the participants were divided into three groups: primary snoring group (ODI<5 events/hour, n=34), mild to moderate OSA group (5 events/hour≤ODI<30 events/hour, n=43), and sever OSA group (ODI≥30 events/hour, n=34). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA) scale, and daytime sleepiness was evaluated using the Epworth Sleepiness Scale (ESS). Resting-state functional magnetic resonance imaging (fMRI) data were collected and preprocessed. dFNC matrices were constructed using a sliding time window approach. The number of dFNC states was determined using k-means clustering analysis. Three parameters, namely, fractional time (FT), mean dwell time (MDT), and number of transitions (NT), were used to characterize the temporal properties of dFNC states. Differences in the temporal properties of dFNC states among the groups were compared. The correlations between temporal properties and PSG parameters, as well as MoCA and ESS scores, were further analyzed. Multiple stepwise linear regression analysis was performed to identify the influencing factors of the temporal properties of dFNC states. Results: The age of the patients was (40.2±8.6) years (range: 25-65 years). There were no significant differences in age, smoking history and alcohol history, and MoCA scores among the three groups (all P>0.05). Three dFNC states were extracted through k-means clustering analysis: state 1, characterized by strong connections within the visual and sensorimotor networks with a frequency of 31.7% (4 611/14 541); state 2, characterized by strong connections within the default mode network, attention network, and other cognitive networks, with the lowest frequency of 22.1% (3 213/14 541); state 3, characterized by weaker connections across the whole brain, with the highest frequency of 46.2% (6 717/14 541). The FT [0.28 (0.05, 0.35) vs 0.39 (0.26, 0.53)] and MDT [8.20 (4.35, 12.54) vs 11.68 (8.50, 16.69)] of state 2 in the sever OSA group were lower than those in the primary snoring group (both P<0.05), while there were no significant differences in the temporal properties of states 1 and 3 among the three groups (all P>0.05). The FT and MDT of state 2 were correlated with body mass index (BMI), apnea-hypopnea index (AHI), ODI, and minimum oxygen saturation (MinSaO2) (FT: r values were -0.218, -0.230, -0.249, 0.198, respectively; MDT: r values were 0.269, -0.253, -0.265, 0.209, respectively; all P<0.05). There were no significant correlations between the temporal properties and MoCA or ESS scores (all P>0.05). ODI was found to be an influencing factor for the temporal properties of state 2 (FT: ß=-0.225, 95%CI:-0.227 to -0.223; MDT: ß=-0.241, 95%CI:-0.289 to -0.195). Conclusions: Male patients with OSA exhibit alterations in specific temporal properties of brain network dynamic functional connectivity, which are associated with nocturnal oxygen parameters. This may be one of the mechanisms underlying brain functional damage in patients with OSA.
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Apneia Obstrutiva do Sono , Ronco , Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Ronco/complicações , Apneia Obstrutiva do Sono/complicações , Encéfalo/patologia , Sono , OxigênioRESUMO
Objective: In order to understand the changing trends of gastric cancer incidence and mortality in early-onset and late-onset in China from 2000 to 2019. Methods: The Global Burden of Disease research data was collected, and Excel and R 4.2.1 softwares were used to examine the incidence rate, mortality rate, and disability-adjusted life years (DALY) of Chinese people from 2000 to 2019, with a focus on gender, age, and year. Results: In 2019, the crude incidence rates were 7.06/100 000 (95%UI: 6.63/100 000-7.59/100 000) and 114.52/100 000 (95%UI: 108.79/100 000-121.63/100 000) for early- and late-onset gastric cancer, respectively. The crude mortality rate for early-onset gastric cancer was 3.29/100 000 (95%UI: 3.11/100 000- 3.50/100 000), while the crude mortality rate for late-onset gastric cancer was 81.88/100 000 (95%UI: 78.15/100 000-86.04/100 000). Additionally, the crude DALY rates for these two types of gastric cancer were 156.48/100 000 (95%UI: 148.82/100 000-165.84/100 000) and 1 750.13/100 000 (95%UI: 1 661.21/100 000-1 852.99/100 000). The standardized incidence of early-onset gastric cancer decreased from 5.49/100 000 in 2000 to 4.76/100 000 in 2019, and that of late-onset gastric cancer decreased from 143.45/100 000 in 2000 to 123.02/100 000 in 2019.The standardized mortality rate of early-onset gastric cancer decreased from 4.16/100 000 in 2000 to 2.18/100 000 in 2019, and that of late-onset gastric cancer decreased from 140.82/100 000 in 2000 to 91.49/100 000 in 2019. The standardized DALY rate for early-onset gastric cancer in 2019 was 105.87/100 000 (95%UI: 87.98/100 000 -125.60/100 000), lower than 198.84/100 000 (95%UI: 179.47/100 000- 219.83/100 000) in 2000. The standardized DALY rate for late onset gastric cancer in 2019 was 1 821.11/100 000 (95%UI: 1 509.42/100 000-2 158.53/100 000), lower than 2 932.52/100 000 (95%UI: 2 665.92/100 000-3 252.60/100 000) in 2000. Conclusions: The standardized mortality rate of early-onset gastric cancer in China showed a decreasing trend from 2000 to 2019. The standardized mortality rate of late onset gastric cancer showed a trend of first increasing and then decreasing. Notably, the incidence, mortality, and DALY of late-onset gastric cancer were significantly higher than those of early-onset gastric cancer during this period. Additionally, male incidence, mortality, and crude DALY rates were higher than female.
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Neoplasias Gástricas , Feminino , Humanos , Masculino , Povo Asiático , China/epidemiologia , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/mortalidade , Idade de Início , IncidênciaRESUMO
Objective: To explore the effect of strengthening individualized nutrition education in the second trimester based on first trimester on blood glucose. Methods: A retrospective study was conducted on 398 pregnant women aged (31.79±3.48) (23-41) years old who underwent an oral glucose tolerance test (OGTT) from October 2021 to December 2022 at Beijing Tsinghua Changgung Hospital. They were divided into two groups according to whether the women were re-visited in second trimester or not. The routine group consisted of 205 pregnant women aged between 24 and 41 (31.49±3.36) years old who only received the first trimester nutrition education and the strengthening group consisted of 193 pregnant women aged (31.92±3.97) (23-41) years old who received both the first and second trimester nutrition education. Then according to pre pregnancy body mass index (BMI), they were divided into normal (18.5 kg/m2≤BMI<24 kg/m2) and overweight (24 kg/m2≤BMI<28 kg/m2). The OGTT blood glucose level, the positive rate of gestational diabetes (GDM) and the weight gain during pregnancy were compared between the two groups with different BMI, in order to analyze the effect of strengthening nutrition education in the second trimester of pregnancy on blood glucose. Results: The differences between the two groups were not statistically significant in terms of the pregnant women's age, proportion of pregnant women aged≥35, proportion of pre-pregnancy BMI and overweight, parity and early pregnancy blood glucose (all P>0.05). The blood glucose levels of OGTT at 0, 1, and 2 hour were (4.57±0.37), (8.41±1.70), and (7.28±1.51) mmol/L, respectively, lower than those in the routine group [(4.74±0.48), (9.44±1.55), and (8.27±1.58) mmol/L, respectively, all P<0.001]. The positive rate of GDM in the strengthening group was 35.23% (68/193), which was lower than that in the routine group (91.71%, 188/205) (P<0.001). After the BMI stratification, the OGTT blood glucose levels and the positive rate of GDM in the strengthening group were still lower than those in the routine group (all P<0.05). The weight gain with normal BMI in the early pregnancy in routine group was higher than that in the strengthening group (P=0.003), but there was no significant statistical difference in weight gain of overweight pregnant women at different gestational weeks (all P>0.05). Conclusion: Strengthening a nutrition education about second trimester for pregnant women in the early stages of pregnancy can effectively improve blood glucose levels and reduce the positive rate of GDM.
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Glicemia , Diabetes Gestacional , Gravidez , Feminino , Humanos , Adulto Jovem , Adulto , Sobrepeso , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Estudos Retrospectivos , Aumento de PesoRESUMO
Objective: To evaluate the value of machine learning (ML) models based on biparametric magnetic resonance imaging (bpMRI) for diagnosis of prostate cancer (PCa) and clinically significant prostate cancer (csPCa). Methods: A total of 1 368 patients, aged from 30 to 92 (69.4±8.2) years, from 3 tertiary medical centers in Jiangsu Province were retrospectively collected from May 2015 to December 2020, including 412 cases of csPCa, 242 cases of clinically insignificant prostate cancer (ciPCa) and 714 cases of benign prostate lesions. The data of center 1 and center 2 were randomly divided into training cohort and internal testing cohort at a ratio of 7â¶3 by random number sampling without replacement using Python Random package, and the data of center 3 were used as the independent external testing cohort. The training cohort includs 243 cases of csPCa, 135 cases of ciPCa and 384 cases of benign lesions, the internal testing cohort includs 104 cases of csPCa, 58 cases of ciPCa and 165 cases of benign lesions, and the external testing cohort includs 65 cases of csPCa, 49 cases of ciPCa and 165 cases of benign lesions. The radiomics features were extracted on T2-weighted imaging, diffusion-weighted imaging and apparent diffusion coefficient map, and optimal radiomics features were selected by using Pearson correlation coefficient method and analysis of variance. The ML models were built using two ML algorithms, including support vector machine and random forest (RF) and were further tested in the internal testing cohort and external testing cohort. Finally, the PI-RADS scores evaluated by the radiologists were adjusted by the ML models which had superior diagnostic performance, namely adjusted PI-RADS. The receiver operating characteristic (ROC) curves were used to evaluate the diagnostic performance of the ML models and PI-RADS. DeLong test was used to compare the areas under curve (AUC) of models with those of PI-RADS. Results: For PCa diagnosis, in internal testing cohort, the AUC of ML model using RF algorithm and PI-RADS were 0.869 (95%CI: 0.830-0.908) and 0.874 (95%CI: 0.836-0.913), respectively, and the difference between the model and PI-RADS did not reach to the statistical significance (P=0.793). In the external testing cohort, the AUC of model and PI-RADS were 0.845 (95%CI: 0.794-0.897) and 0.915 (95%CI: 0.880-0.951), respectively, and the difference was statistically significant (P=0.01). For csPCa diagnosis, the AUC of ML model using RF algorithm and PI-RADS were 0.874 (95%CI: 0.834-0.914) and 0.892 (95%CI: 0.857-0.927), respectively, in internal testing cohort, and the difference between the model and PI-RADS was not statistically significant (P=0.341). In the external testing cohort, the AUC of model and PI-RADS were 0.876 (95%CI: 0.831-0.920) and 0.884 (95%CI: 0.841-0.926), respectively, and the difference between the model and PI-RADS was not statistically significant (P=0.704). When PI-RADS assessment was adjusted with the assistance of ML models, the specificities increased from 63.0% to 80.0% in the internal testing cohort and from 92.7% to 93.3% in the external test group in diagnosing PCa. In diagnosing csPCa, the specificities increased from 52.5% to 72.6% in the internal testing cohort and from 75.2% to 79.9% in the external testing cohort. Conclusions: The ML models based on bpMRI showed comparable diagnostic performance to PI-RADS assessed by senior radiologists and achieved good generalization ability in both diagnosing PCa and csPCa. The specificities of the PI-RADS were improved by ML models.
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Imageamento por Ressonância Magnética , Neoplasias da Próstata , Masculino , Humanos , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Neoplasias da Próstata/diagnóstico , Imagem de Difusão por Ressonância Magnética , Aprendizado de MáquinaRESUMO
Objectives: To analyze the reasons of missed diagnosis or misdiagnosis on anomalous origin of left coronary artery from pulmonary artery (ALCAPA) by echocardiography. Methods: This is a retrospective study. Patients with ALCAPA who underwent surgical treatment in Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from August 2008 to December 2021 were included. According to the results of preoperative echocardiography and surgical diagnosis, the patients were divided into confirmed group or missed diagnosis/misdiagnosis group. The results of preoperative echocardiography were collected, and the specific echocardiographic signs were analyzed. According to the experience of the doctors, the echocardiographic signs were divided into four types, namely clear displayed, vague/doubtful displayed, no display and no notice, and the display rate of each sign was calculated (display rate=number of clearly displayed cases/total number of cases×100%). By referring the surgical data, we analyzed and recorded the pathological anatomy and pathophysiological characteristics of the patients, and the rate of missed diagnosis/misdiagnosis of echocardiography in patients with different characteristics was compared. Results: A total of 21 patients were enrolled, including 11 males, aged 1.8 (0.8, 12.3) years (range 1 month to 47 years). Except for one patient with anomalous origin of left anterior descending artery, the others were all originated from the main left coronary artery (LCA). There were 13 cases of ALCAPA in infant and children, and 8 cases of adult ALCAPA. There were 15 cases in the confirmed group (diagnostic accuracy was 71.4% (15/21)), and 6 cases in the missed diagnosis/misdiagnosis group (three cases were misdiagnosed as primary endocardial fibroelastosis, two cases were misdiagnosed as coronary-pulmonary artery fistula; and one case was missed diagnosis). The working years of the physicians in the confirmed group were longer than those in the missed diagnosis/misdiagnosed group ((12.8±5.6) years vs. (8.3±4.7) years, P=0.045). In infants with ALCAPA, the detection rate of LCA-pulmonary shunt (8/10 vs. 0, P=0.035) and coronary collateral circulation (7/10 vs. 0, P=0.042) in confirmed group was higher than that in missed diagnosis/misdiagnosed group. In adult ALCAPA patients, the detection rate of LCA-pulmonary artery shunt was higher in confirmed group than that in missed diagnosis/misdiagnosed group (4/5 vs. 0, P=0.021). The missed diagnosis/misdiagnosis rate of adult type was higher than that of infant type (3/8 vs. 3/13, P=0.410). The rate of missed diagnosis/misdiagnosis was higher in patients with abnormal origin of branches than that of abnormal origin of main trunk (1/1 vs. 5/21, P=0.028). The rate of missed diagnosis/misdiagnosis in patients with LCA running between the main and pulmonary arteries was higher than that distant from the main pulmonary artery septum (4/7 vs. 2/14, P=0.064). The rate of missed diagnosis/misdiagnosis in patients with severe pulmonary hypertension was higher than that in patients without severe pulmonary hypertension (2/3 vs. 4/18, P=0.184). The reasons with an echocardiography missed diagnosis/misdiagnosis rate of≥50% included that (1) the proximal segment of LCA ran between the main and pulmonary arteries; (2) abnormal opening of LCA at the right posterior part of the pulmonary artery; (3) abnormal origin of LCA branches; (4) complicated with severe pulmonary hypertension. Conclusions: Echocardiography physicians' knowledge of ALCAPA and diagnostic vigilance are critical to the accuracy of diagnosis. Attention should be paid to the pediatric cases with no obvious precipitating factors of left ventricular enlargement, regardless of whether the left ventricular function is normal or not, the origin of coronary artery should be routinely explored.
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Síndrome de Bland-White-Garland , Anomalias dos Vasos Coronários , Hipertensão Pulmonar , Masculino , Adulto , Lactente , Criança , Humanos , Síndrome de Bland-White-Garland/diagnóstico por imagem , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Diagnóstico Ausente , Ecocardiografia , Anomalias dos Vasos Coronários/diagnóstico por imagemRESUMO
OBJECTIVE: This study aimed to explore the early diagnostic value of lymphocyte count in the early diagnosis of surgical site infection (SSI) following posterior lumbar fusion. PATIENTS AND METHODS: In this study, we retrospectively analyzed the data from a total of 37 patients with lumbar SSI from Guizhou Province Orthopaedic Hospital and Nanyang Central Hospital, 2008.1-2018.11, and 104 patients without SSI. We analyzed the C-reactive protein (CRP) level, white blood cell count (WBC) and differential count before instrumented lumbar fusion at 3 and 7 days postoperatively. The significance of the differences was evaluated by one-way ANOVA, followed by Fisher's test. The parameters mentioned above were analyzed on postoperative days 3 and 7 using the receiver operating characteristic curve and the area under the curve (AUC). Furthermore, the analyses were conducted by SPSS 22.0 software. RESULTS: The lymphocyte count in the SSI group on postoperative day 3 was significantly lower than that in the no-SSI group after surgery (p=0.000). According to the ROC curve analysis of related parameters on postoperative day 3, the AUC value of lymphocytes (0.840) was significantly larger than the AUC value of C-reactive protein (0.749). CONCLUSIONS: The lymphocyte count and C-reactive protein level on postoperative day 3 are reliable predictors of infection.
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Proteína C-Reativa , Infecção da Ferida Cirúrgica , Humanos , Infecção da Ferida Cirúrgica/diagnóstico , Proteína C-Reativa/análise , Estudos Retrospectivos , Contagem de Linfócitos , Contagem de Leucócitos , Diagnóstico Precoce , Curva ROCRESUMO
OBJECTIVE: This study aimed to determine the morbidity and comorbidity of glucolipid metabolic multiple noncommunicable diseases in a Chinese natural population and associated risk factors. SUBJECTS AND METHODS: A cross-sectional survey with randomized sampling was conducted on a typical sample of 4,002 residents (aged 26-76 years) in the Pinggu District of Beijing. They were subjected to a questionnaire survey, physical examination, and laboratory examination to collect data. Multivariable analysis was used to establish the association between various risk factors and multiple noncommunicable diseases. RESULTS: The overall prevalence rate of chronic glucolipid metabolic noncommunicable diseases was 84.28%. The most common type of noncommunicable diseases was dyslipidemia, abdominal obesity, hypertension, obesity, and type 2 diabetes. The prevalence rate of multiple noncommunicable diseases was 79.60%. Participants with dyslipidemia were at higher risk for underlying chronic diseases. Younger men and women after menopause were more likely to have multiple noncommunicable diseases compared to their older and younger counterparts, respectively. The results of multivariate logistic regression indicated that age above 50, male sex, high household income, low education level, and harmful alcohol consumption were independent risk factors for multiple noncommunicable diseases. CONCLUSIONS: The prevalence of chronic glucolipid metabolic noncommunicable diseases in Pinggu was higher than at the national level. Men with multiple noncommunicable diseases were younger, while women after menopause were more likely to suffer from multiple noncommunicable diseases and the prevalence rate was higher than in men. Intervention programs that aim to target risk factors by sex and region-specific are urgently needed.
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Diabetes Mellitus Tipo 2 , Doenças não Transmissíveis , Feminino , Masculino , Humanos , Estudos Transversais , Morbidade , Fatores de Risco , China , ObesidadeRESUMO
Neoadjuvant therapy has been widely applied in the treatment of rectal cancer, which can shrink tumor size, lower tumor staging and improve the prognosis. It has been the standard preoperative treatment for patients with locally advanced rectal cancer. The efficacy of neoadjuvant therapy for rectal cancer patients varies between individuals, and the results of tumor regression are obviously different. Some patients with good tumor regression even achieve pathological complete response (pCR). Tumor regression is of great significance for the selection of surgical regimes and the determination of distal resection margin. However, few studies focus on tumor regression patterns. Controversies on the safe distance of distal resection margin after neoadjuvant treatment still exist. Therefore, based on the current research progress, this review summarized the main tumor regression patterns after neoadjuvant therapy for rectal cancer, and classified them into three types: tumor shrinkage, tumor fragmentation, and mucin pool formation. And macroscopic regression and microscopic regression of tumors were compared to describe the phenomenon of non-synchronous regression. Then, the safety of non-surgical treatment for patients with clinical complete response (cCR) was analyzed to elaborate the necessity of surgical treatment. Finally, the review studied the safe surgical resection range to explore the safe distance of distal resection margin.
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Terapia Neoadjuvante , Neoplasias Retais , Humanos , Terapia Neoadjuvante/métodos , Margens de Excisão , Resultado do Tratamento , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Reto/patologia , Estadiamento de Neoplasias , Estudos RetrospectivosRESUMO
BACKGROUND: Oxidative damage and inflammation are two critical mechanisms underlying secondary brain injury (SBI) following intracerebral hemorrhage (ICH). Xanthotoxol is reported to alleviate brain edema and inhibit inflammatory responses. Herein, we investigated the effects of xanthotoxol and its related mechanisms in SBI post-ICH. METHODS: To explore the clinical effects of xanthotoxol an animal model of ICH was established. Neurological scores, survival rates and brain water content were measured. Inflammatory responses and oxidative damage in the peri-hemorrhagic areas were determined by measuring pro-inflammatory cytokines and oxidative related factors. The activation of the M1/M2 phenotype was detected by western blotting and immunofluorescence. RESULTS: Xanthotoxol improved the neurological functions and reduced cerebral edema in ICH mice. Additionally, xanthotoxol inhibited microglia activation and promotes microglial phagocytosis. Simultaneously, xanthotoxol promoted the transformation of BV2 cells from M1 phenotype to M2 phenotype, and protected BV2 cells against hemin-induced inflammation and oxidative stress. Mechanistically, xanthotoxol inactivated the NF-κB p65 signaling pathway in the hemin-challenged BV2 cells. CONCLUSION: Xanthotoxol ameliorates SBI post-ICH by suppressing microglia-mediated neuroinflammation and oxidative stress and enhancing microglial phagocytosis through inhibition of NF-κB signaling.
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Lesões Encefálicas , NF-kappa B , Camundongos , Animais , NF-kappa B/metabolismo , NF-kappa B/farmacologia , Microglia/metabolismo , Doenças Neuroinflamatórias , Hemina/metabolismo , Hemina/farmacologia , Hemorragia Cerebral/complicações , Hemorragia Cerebral/tratamento farmacológico , Lesões Encefálicas/tratamento farmacológico , Inflamação/tratamento farmacológico , Inflamação/complicações , Inflamação/metabolismo , Estresse OxidativoRESUMO
Objective: To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly. Methods: A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis. Results: In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene. Conclusions: CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.
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Microcefalia , Diagnóstico Pré-Natal , Feminino , Humanos , Gravidez , Variações do Número de Cópias de DNA , Feto , Cariótipo , Cariotipagem , Análise em Microsséries/métodos , Microcefalia/diagnóstico , Microcefalia/genética , Diagnóstico Pré-Natal/métodos , Recém-NascidoRESUMO
Objective: To investigate the correlation between the first tarsometatarsal joint (TMT1) sagittal mobility and hallux valgus (HV) combined with transfer metatarsalgia (TM). Methods: The weight-bearing CT (WBCT) imaging data of 111 HV patients (167 feet) who were treated at the Foot and Ankle Surgery Center, Beijing Tongren Hospital Affiliated to Capital Medical University from January 2018 to January 2020 were retrospectively analyzed. The patients underwent PedCAT WBCT scans of both feet, and the hallux valgus angle (HVA), intermetatarsal angle (IMA), plantar distance (PD), medial cuneiform-first metatarsal angle (CMA) and metatarsal protrusion distance (MPD) were measured using CubeVue software. PD and CMA were signs of TMT1 instability. Visual analogue scale (VAS) and foot and ankle ability measures (FAAM) scores were obtained. The patients were divided into TM group and non-TM group according to the presence of metatarsalgia. The TM group and the non-TM group were compared in terms of HVA, IMA, PD, CMA, MPD, VAS and FAAM. Correlations between PD, CMA and HVA, IMA, VAS, FAAM were analyzed using Spearman correlation. Results: Total of 111 cases were included in this study, there were 35 males and 76 females with a mean age of (57.7±14.1) years. The average values of HVA (37.9°±8.6°), IMA (17.9°±2.6°), CMA (2.1°±0.3°) and PD [(1.8±0.4) mm] in TM group were all significantly higher than those in the non-TM group [HVA (32.5°±9.1°), IMA (15.1°±3.4°), CMA (1.7°±0.3°) and PD (1.6±0.2) mm] (All P<0.001). There was no significant difference in MPD between the two groups (P=0.580). The TM group demonstrated a higher VAS score when compared with the non-TM group (P<0.001). The FAAM score of the TM group (54.1±11.8) was significantly lower than that in the non-TM group (66.2±11.4) (P<0.001). The results of Spearman correlation analysis showed that there was no correlation between PD and HVA, IMA and VAS score. There was a negative correlation between PD, CMA and FAAM score, and the difference was statistically significant (rs=-0.637, -0.254, both P<0.001); CMA was positively correlated with HVA, IMA, and VAS score (rs=0.603, 0.971, 0.269, all P<0.001). Conclusions: WBCT is helpful for the diagnosis of TMT1 sagittal instability. The severity of TMT1 sagittal instability is positively correlated with hallux valgus and TM. The TMT1 instability may play an important role in the pathogenesis of hallux valgus.
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Hallux Valgus , Ossos do Metatarso , Metatarsalgia , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/cirurgia , Estudos Retrospectivos , Radiografia , Osteotomia/métodos , Ossos do Metatarso/cirurgia , Resultado do TratamentoAssuntos
Vasculite por IgA , Imunossupressores , Humanos , Rituximab/uso terapêutico , Imunoglobulina A , EsteroidesAssuntos
Diabetes Mellitus Tipo 2 , Glucoquinase , Gravidez , Feminino , Humanos , Glucoquinase/genética , MutaçãoRESUMO
OBJECTIVE: To evaluate the relationship between 24 h urinary ion content and kidney stones, and to explore the diagnostic values of kidney stone in primary gout patients. METHODS: Patients diagnosed with primary gout had ultrasound scanning of both feet and kidneys in Peking University First Hospital from Jan. 2020 to May 2021. Their clinical characteristics were compared between the positive and negative kidney stone groups, and the relationship between kidney stone and urinary ion composition were analyzed. Risk factors of kidney stone were analyzed. The explored diagnostic values were evaluated for urinary oxalate and citrate according with uric acid kidney stones by dual-energy computed tomography (DECT). RESULTS: Among the 100 gouty patients, 80 patients had uric acid crystal deposition in lower joints of extremity by ultrasonography, 61 patients had kidney stone, and 34 had kidney uric acid stones by DECT. All the multiple kidney stones were proved as uric acid kidney stones by DECT. Compared with patients without kidney stone group proved by ultrasonography, patients with kidney stone had longer gouty duration [(48.7±26.6) months vs. (84.0±30.6) months, P=0.01], higher 24 h urinary oxalate [(20.1±9.6) mg vs. (28.6±20.7) mg, P=0.001] and lower 24 h urinary citrate [(506.3±315.4) mg vs. (355.7±219.6) mg, P=0.001]. Compared with the patients without kidney stone by DECT, the patients with uric acid kidney stone also had longer disease duration [(49.1±28.4) months vs. (108.3±72.2) months, P=0.001], higher 24 h urinary oxalate [(23.6±16.9) mg vs. (28.5±18.8) mg, P < 0.05], lower 24 h urinary citrate [(556.0±316.3) mg vs. (391.7±261.2) mg, P < 0.05], higher serum uric acid [(466.2±134.5) µmol/L vs. (517.2±18.1) µmol/L, P < 0.05] and higher 24 h urinary uric acid [(1 518.1±893.4) mg vs. (1 684.2±812.1) mg, P < 0.05]. Logistic regression analysis showed long gout disease duration (OR=1.229, 95%CI: 1.062-1.522, P < 0.05), high serum uric acid level (OR=1.137, 95%CI: 1.001-1.213, P=0.01), low 24 h urinary citrate (OR=0.821, 95%CI: 0.659-0.952, P=0.01) were all risk factors of kidney stones by ultrasonography. Also, long gout disease duration (OR=1.201, 95%CI: 1.101-1.437, P=0.005), high serum creatine uric level (OR=1.145, 95%CI: 1.001-1.182, P=0.04), low 24 h urinary citrate (OR=0.837, 95%CI: 0.739-0.931, P=0.02) were all risk factors of kidney uric acid stones by DECT. CONCLUSION: Long disease duration and low 24 h urinary citrate were risk factors for kidney stones.
Assuntos
Gota , Cálculos Renais , Cálculos Urinários , Humanos , Ácido Úrico/análise , Ácido Cítrico , Cálculos Renais/diagnóstico por imagem , Gota/complicações , Gota/diagnóstico por imagem , Citratos , OxalatosRESUMO
We reported a pediatric case of Kawasaki disease complicated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) from Beijing Tsinghua Changgung Hospital. The clinical data were retrospectively analyzed and the related literature was reviewed. The clinical features, treatment and prognosis of the disease were summarized to improve recognition of Kawasaki disease complicated with MERS. A 7-year-old boy was diagnosed with Kawasaki disease due to continuous high fever for 6 d, accompanied by strawberry tongue, conjunctival congestion, erythema-like hyperemia rash, and cervical enlarged lymph nodes. And treatment was started with intravenous immunoglobulin (IVIG: 2 g/kg) and oral aspirin [40 mg/(kg·d)]. Twenty-four hours after the treatment of IVIG, the patient' s fever persisted and in addition he developed headache and drowsiness. His cranial magnetic resonance imaging (MRI) demonstrated a localized lesion in the splenium of the corpus callosum with high intensity signal on diffusion-weighted images (DWI) and T2-weighted, and low intensity signal on apparent diffusion coefficient (ADC) and T1-weighted. Based on these findings, he was diagnosed with MERS-complicated Kawasaki disease. Methylprednisolone [2 mg/(kg·d)] treatment was started intravenously, and within several hours he was afebrile and the neurological symptoms disappeared. A follow-up MRI was conducted after 1 week was normal. He was discharged without any neurological sequelae and coronary artery lesions. A total of 12 qualified foreign literature were retrieved, with no Chinese literature searched. Seventeen children were reported, the median age was 6.5 years (range: 1-14 years), among them 11 cases were children over 5 years old, and 4 cases were complicated with coronary artery lesions. All children had neurological symptoms, such as consciousness disorder, visual hallucination or convulsion. MRI conformed to MERS imaging changes. After active treatment, the neurological manifestations and radiological abnormalities completely disappeared, leaving no neurological sequelae. Kawasaki disease complicated with MERS had not been reported in China by now. Literature that identified Kawasaki disease complicated with MERS mostly occurred in children over 5 years old. Cranial MRI examination is helpful for early diagnosis. Timely treatment can reverse MERS in a short time, without neurological sequelae left.