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Purpose: To investigate the primary causes and clinical characteristics of cystic encephalomalacia (CE) in children. Methods: The clinical data of 50 children who were admitted to our hospital due to CE between January 2008 and December 2020 were retrospectively reviewed. Their primary causes, clinical manifestations and cranial magnetic resonance imaging features were analyzed. Results: Among all patients, 5 had prematurity, 19 had hypoxic-ischemic encephalopathy (HIE), 13 had intracranial infection, 14 had traumatic brain injury and hemorrhage, 4 had cerebral infarction, 2 had congenital genetic diseases, and 1 had hypoglycemia. The average time from primary disease onset to CE diagnosis was 70.1 ± 61.0 days. The clinical manifestations included speech or motor developmental delay (n = 33), epilepsy (n = 31), dystonia (n = 27), limb paralysis (n = 16), and visual or auditory impairment (n = 5). Patients with HIE as the primary cause of CE had a significantly higher occurrence of dystonia, while a significantly higher incidence of paralysis was observed in those with cerebral infarction as the primary cause. Conclusion: CE in children is mainly caused by HIE, intracranial infection, and cerebral hemorrhage. The major clinical manifestations included speech or motor developmental delay, epilepsy, and dystonia. Magnetic resonance imaging is an important tool for the diagnosis of CE.
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BACKGROUND: Stuttering affects approximately 5% of children; however, its neurological basis remains unclear. Identifying imaging biomarkers could aid in early detection. Accordingly, we investigated resting-state cerebral blood flow (CBF) in children with developmental stuttering. METHODS: Pulsed arterial spin labelling magnetic resonance imaging was utilised to quantify CBF in 35 children with developmental stuttering and 27 healthy controls. We compared normalised CBF between the two groups and evaluated the correlation between abnormal CBF and clinical indicators. RESULTS: Compared with healthy controls, the stuttering group exhibited decreased normalised CBF in the cerebellum lobule VI bilaterally, right cuneus, and left superior occipital gyrus and increased CBF in the right medial superior frontal gyrus, left rectus, and left dorsolateral superior frontal gyrus. Additionally, normalised CBF in the left cerebellum lobule VI and left superior occipital gyrus was positively correlated with stuttering severity. CONCLUSIONS: Children who stutter display decreased normalised CBF primarily in the cerebellum and occipital gyrus, with increased normalised CBF in the frontal gyrus. Additionally, the abnormal CBF in the left cerebellum lobule VI and left superior occipital gyrus was associated with more severe symptoms, suggesting that decreased CBF in these areas may serve as a novel neuroimaging clue for stuttering. IMPACT: Stuttering occurs in 5% of children and often extends into adulthood, which may negatively affect quality of life. Early detection and treatment are essential. We used pulsed arterial spin labelling magnetic resonance imaging to visualise the resting-state cerebral blood flow (CBF) in children who stutter and healthy children. Normalised CBF was decreased in stutterers in the cerebellum and occipital gyrus and increased in the frontal gyrus. Stuttering severity was linked to abnormal normalised CBF in the left cerebellum lobule VI and left superior occipital gyrus, suggesting that CBF may serve as a novel neuroimaging clue for stuttering.
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BACKGROUND: Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease. CASE PRESENTATION: A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient's hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital. CONCLUSION: A comprehensive and intuitive understanding of the disease's imaging manifestations can help clinicians to identify the disease and avoid delays in care.
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Imageamento por Ressonância Magnética , Síndrome dos Cabelos Torcidos , Humanos , Síndrome dos Cabelos Torcidos/diagnóstico , Síndrome dos Cabelos Torcidos/diagnóstico por imagem , Masculino , Lactente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Imagem Corporal Total , Osso e Ossos/diagnóstico por imagemRESUMO
The fetal period is a critical stage in brain development, and understanding the characteristics of the fetal brain is crucial. Although some studies have explored aspects of fetal brain functional networks, few have specifically focused on sex differences in brain network characteristics. We adopted the graph theory method to calculate brain network functional connectivity and topology properties (including global and nodal properties), and further compared the differences in these parameters between male and female fetuses. We found that male fetuses showed an increased clustering coefficient and local efficiency than female fetuses, but no significant group differences concerning other graph parameters and the functional connectivity matrix. Our study suggests the existence of sex-related distinctions in the topological properties of the brain network at the fetal stage of development and demonstrates an increase in brain network separation in male fetuses compared with female fetuses.
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Imageamento por Ressonância Magnética , Caracteres Sexuais , Masculino , Humanos , Feminino , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Análise por ConglomeradosRESUMO
A Gram-negative, facultatively anaerobic, short rod-shaped bacterium, designated as strain HZ0627T, was isolated from the appendiceal pus of a patient with appendicitis in Yongzhou, Hunan, China. This strain was subjected to comprehensive phenotypic, phylogenetic, and genomic analyses using polyphasic taxonomic methods. Phylogenetic analysis of the 16S rRNA gene sequence revealed that this strain belonged to the genus Proteus and the family Morganellaceae, whereas that based on the rpoB gene sequence and phylogenomic analysis demonstrated that this strain was distinctly separated from other type strains of Proteus species. Moreover, whole-genome-based analyses, including in silico DNA-DNA hybridization (isDDH) and average nucleotide identity (ANI), revealed that strain HZ0627T had much lower isDDH rates (24.5-55.6%) and ANI (82.04-93.90%) than those of the thresholds (i.e., 70% and 95%, respectively) for species delineation, when compared to the type strains of other Proteus species. The cellular fatty acid profile of strain HZ0627T was dominated by C16:0 (34.5%), cyclo C17:0 (25.8%), C14:0 (12.6%), C16:1 iso I/14:0 3-OH (7.7%), C18:1ω7c/18:1ω6c (6.5%), and C16:1ω7c/16:1ω6c (4.9%), which clearly differentiated it from the documented type strains of Proteus species. In addition, several specific physiological traits, including optimal growth temperature, tolerance to sodium chloride, and carbon source utilization, differed from those of other Proteus species. Therefore, we propose the name Proteus appendicitidis sp. nov. for strain HZ0627T (= CCTCC AB 2022380T = KCTC 92986T), which represents the type strain of this novel Proteus species.
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Apendicite , Humanos , Filogenia , RNA Ribossômico 16S/genética , Análise de Sequência de DNA , Proteus/genética , Ácidos Graxos/análise , China , DNA , Supuração , DNA Bacteriano/genética , Técnicas de Tipagem Bacteriana , Hibridização de Ácido NucleicoRESUMO
Objective: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most common forms of autosomal-dominant muscular dystrophies characterized by variable disease penetrance due to shortened D4Z4 repeat units on 4q35. The molecular diagnosis of FSHD1 is usually made by Southern blotting, which is complex, time-consuming, and lacks clinical practicality. Therefore, in this study, optical genome mapping (OGM) is employed for the genetic diagnosis of FSHD1. Furthermore, epigenetic heterogeneity is determined from methylation analysis. Methods: Genomic DNA samples from four members of the same family were subjected to whole-exome sequencing. OGM was used to identify structural variations in D4Z4, while sodium bisulfite sequencing helped identify the methylation levels of CpG sites in a region located distally to the D4Z4 array. A multidisciplinary team collected the clinical data, and comprehensive family analyses aided in the assessment of phenotypes and genotypes. Results: Whole-exome sequencing did not reveal variants related to clinical phenotypes in the patients. OGM showed that the proband was a compound heterozygote for the 4qA allele with four and eight D4Z4 repeat units, whereas the affected younger brother had only one 4qA allele with four D4Z4 repeat units. Both the proband and her younger brother were found to display asymmetric weakness predominantly involving the facial, shoulder girdle, and upper arm muscles, whereas the younger brother had more severe clinical symptoms. The proband's father, who was found to be normal after a neurological examination, also carried the 4qA allele with eight D4Z4 repeat units. The unaffected mother exhibited 49 D4Z4 repeat units of the 4qA allele and a minor mosaic pattern with four D4Z4 repeat units of the 4qA allele. Consequently, the presence of the 4qA allele in the four D4Z4 repeat units strongly pointed to the occurrence of maternal germline mosaicism. The CpG6 methylation levels were lower in symptomatic patients compared to those in the asymptomatic parents. The older sister had lower clinical scores and ACSS and higher CpG6 methylation levels than that of her younger brother. Conclusions: In this study, two siblings with FSHD1 with phenotypically normal parents were identified by OGM. Our findings suggest that the 4qA allele of four D4Z4 repeats was inherited through maternal germline mosaicism. The clinical phenotype heterogeneity is influenced by the CpG6 methylation levels. The results of this study greatly aid in the molecular diagnosis of FSHD1 and in also understanding the clinical phenotypic variability underlying the disease.
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Tourette syndrome (TS) is a developmental neuropsychiatric disorder characterized by repetitive, stereotyped, involuntary tics, the neurological basis of which remains unclear. Although traditional resting-state MRI (rfMRI) studies have identified abnormal static functional connectivity (FC) in patients with TS, dynamic FC (dFC) remains relatively unexplored. The rfMRI data of 54 children with TS and 46 typically developing children (TDC) were analyzed using group independent component analysis to obtain independent components (ICs), and a sliding-window approach to generate dFC matrices. All dFC matrices were clustered into two reoccurring states, the state transition metrics were obtained. We conducted Granger causality and nodal topological analyses to further investigate the brain regions that may play the most important roles in driving whole-brain switching between different states. We found that children with TS spent more time in state 2 (PFDR < 0.001), a state characterized by strong connectivity between ICs, and switched more quickly between states (PFDR = 0.025) than TDC. The default mode network (DMN) may play an important role in abnormal state transitions because the FC that changed the most between the two states was between the DMN and other networks. Additionally, the DMN had increased degree centrality, efficiency and altered causal influence on other networks. Certain alterations related to executive function (r = -0.309, P < 0.05) and tic symptom ratings (r = 0.282; 0.413, P < 0.05) may represent important aspects of the pathophysiology of TS. These findings facilitate our understanding of the neural basis for the clinical presentation of TS.
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Síndrome de Tourette , Criança , Humanos , Síndrome de Tourette/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Função Executiva , Comportamento EstereotipadoRESUMO
This study utilized deep learning to classify osteoporosis and predict bone density using opportunistic CT scans and independently tested the models on data from different hospitals and equipment. Results showed high accuracy and strong correlation with QCT results, showing promise for expanding osteoporosis screening and reducing unnecessary radiation and costs. PURPOSE: To explore the feasibility of using deep learning to establish a model for osteoporosis classification and bone density value prediction based on opportunistic CT scans and to verify its generalization and diagnostic ability using an independent test set. METHODS: A total of 1219 cases of opportunistic CT scans were included in this study, with QCT results as the reference standard. The training set: test set: independent test set ratio was 703: 176: 340, and the independent test set data of 340 cases were from 3 different hospitals and 4 different CT scanners. The VB-Net structure automatic segmentation model was used to segment the trabecular bone, and DenseNet was used to establish a three-classification model and bone density value prediction regression model. The performance parameters of the models were calculated and evaluated. RESULTS: The ROC curves showed that the mean AUCs of the three-category classification model for categorizing cases into "normal," "osteopenia," and "osteoporosis" for the training set, test set, and independent test set were 0.999, 0.970, and 0.933, respectively. The F1 score, accuracy, precision, recall, precision, and specificity of the test set were 0.903, 0.909, 0.899, 0.908, and 0.956, respectively, and those of the independent test set were 0.798, 0.815, 0.792, 0.81, and 0.899, respectively. The MAEs of the bone density prediction regression model in the training set, test set, and independent test set were 3.15, 6.303, and 10.257, respectively, and the RMSEs were 4.127, 8.561, and 13.507, respectively. The R-squared values were 0.991, 0.962, and 0.878, respectively. The Pearson correlation coefficients were 0.996, 0.981, and 0.94, respectively, and the p values were all < 0.001. The predicted values and bone density values were highly positively correlated, and there was a significant linear relationship. CONCLUSION: Using deep learning neural networks to process opportunistic CT scan images of the body can accurately predict bone density values and perform bone density three-classification diagnosis, which can reduce the radiation risk, economic consumption, and time consumption brought by specialized bone density measurement, expand the scope of osteoporosis screening, and have broad application prospects.
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Doenças Ósseas Metabólicas , Aprendizado Profundo , Osteoporose , Humanos , Densidade Óssea , Osteoporose/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Estudos RetrospectivosRESUMO
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited cerebral white matter disorder in children. Pathogenic variations in the causative gene MLC1 are found in approximately 76% of patients and are inherited in an autosomal recessive manner. In this study, we identified an IVS2 + 1delG variant in MLC1 in the firstborn girl of a pregnant woman who has the clinical features of MLC, including macrocephaly, motor development delay, progressive functional deterioration, and myelinopathy, whereas no obvious subcortical cysts were observed by magnetic resonance imaging of the brain. The proband is homozygous for the IVS2 + 1delG mutation, which was inherited from the parents. This variant disrupts the donor splice site, causing an abnormal transcript that results in a premature termination codon and produces a truncated protein, which was confirmed to affect splicing by MLC1 cDNA analysis. This variant was also detected in family members, and a prenatal diagnosis for the fetus was undertaken. Eventually, the couple gave birth to an unaffected baby. Furthermore, we conducted a long-term follow-up of the proband's clinical course. This report improves our understanding of the genetic and phenotypic characteristics of MLC and provides a new genetic basis for prenatal diagnosis and genetic counseling.
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Pontocerebellar hypoplasia type 8(PCH8) is a rare neurodegenerative disorder, reportedly caused by pathogenic variants of the CHMP1A in autosomal recessive inheritance, and CHMP1A variants have also been implicated in other diseases, and yet none of the prenatal fetal features were reported in PCH8. In this study, we investigated the phenotype and genotype in a human subject with global developmental delay, including clinical data from the prenatal stage through early childhood. Prenatally, the mother had polyhydramnios, and the bilateral ventricles of the fetus were slightly widened. Postnatally, the infant was observed to have severely delayed psychomotor development and was incapable of visual tracking before 2 years old and could not fix on small objects. The young child had hypotonia, increased knee tendon reflex, as well as skeletal malformations, and dental crowding; she also had severe and recurrent pulmonary infections. Magnetic resonance imaging of the brain revealed a severe reduction of the cerebellum (vermis and hemispheres) and a thin corpus callosum. Through whole exome sequencing and whole genomics sequencing, we identified two novel compound heterozygous variations in CHMP1A [c.53 T > C(p.Leu18Pro)(NM_002768.5) and exon 1 deletion region (NC_000016.10:g.89656392_89674382del)]. cDNA analysis showed that the exon1 deletion region led to the impaired expression, and functional verification with zebrafish embryos using base edition indicated variant c.53 T > C (p.Leu18Pro), causing dysplasia of the cerebellum and pons. These results provide further evidence that CHMP1A variants in a recessive inheritance pattern contribute to the clinical characteristics of PCH8 and further expand our knowledge of the phenotype and genotype spectrum of PCH8.
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Background: Retrograde guidewire (GW) tracking success via a poor septal collateral channel (CC) when an antegrade approach fails is crucial for successful revascularization of coronary chronic total occlusion (CTO) with poor septal CC. However, the incidence, predictors, and management strategies for retrograde GW tracking failure via poor septal CC remain unclear. Methods: In total, 122 CTO patients who underwent retrograde septal percutaneous coronary intervention (PCI) with poor CC between January 2017 and May 2022 were retrospectively analyzed. Patients were divided into the retrograde GW tracking success group (success group) and the retrograde GW tracking failure group (failure group). Clinical and angiographic data were compared to investigate the predictors of retrograde GW tracking failure. Results: The incidence of GW tracking failure was 22.1% (27/122). Patients in the failure group had a higher prevalence of left anterior descending artery (LAD) CTO (66.7% vs 37.9%; p = 0.009) and a higher incidence of well-developed non-septal collateral (66.7% vs 30.5%; p = 0.001). Patients with a septal CC diameter ≥ 1 mm (48.1% vs 70.5%; p = 0.040), ≥ 3 septal CCs (44.4% vs 66.3%; p = 0.046), and initial retrograde application of Guidezilla (37.0% vs 60.0%; p = 0.048) were significantly lower in the failure group than in the success group. The binary logistics regression model showed that a CC diameter < 1 mm, well-developed non-septal collateral, and LAD CTO were independent predictors for GW tracking failure in patients undergoing retrograde CTO PCI via poor septal CC. Conclusion: The success rate of retrograde GW tracking via poor septal CC was high, with a relatively high procedural success rate. A CC diameter < 1 mm, well-developed non-septal collateral, and LAD CTO were independent predictors of GW tracking failure in patients undergoing retrograde CTO PCI via poor septal CC.
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Oclusão Coronária , Intervenção Coronária Percutânea , Humanos , Oclusão Coronária/diagnóstico por imagem , Incidência , Estudos Retrospectivos , Modelos LogísticosRESUMO
BACKGROUND: On the basis of visual-dependent reading method, radiological recognition and assessment of neonatal hyperbilirubinemia (NH) or acute bilirubin encephalopathy (ABE) on conventional magnetic resonance imaging (MRI) sequences are challenging. Prior studies had shown that radiomics was possible to characterize ABE-induced intensity and morphological changes on MRI sequences, and it has emerged as a desirable and promising future in quantitative and objective MRI data extraction. To investigate the utility of radiomics based on T1-weighted sequences for identifying neonatal ABE in patients with hyperbilirubinemia and differentiating between those with NH and the normal controls. METHODS: A total of 88 patients with NH were enrolled, including 50 patients with ABE and 38 ABE-negative individuals, and 70 age-matched normal neonates were included as controls. All participants were divided into training and validation cohorts in a 7:3 ratio. Radiomics features extracted from the basal ganglia of T1-weighted sequences on magnetic resonance imaging were evaluated and selected to set up the prediction model using the K-nearest neighbour-based bagging algorithm. A receiver operating characteristic curve was plotted to assess the differentiating performance of the radiomics-based model. RESULTS: Four of 744 radiomics features were selected for the diagnostic model of ABE. The radiomics model yielded an area under the curve (AUC) of 0.81 and 0.82 in the training and test cohorts, with accuracy, precision, sensitivity, and specificity of 0.82, 0.80, 0.91, and 0.69 and 0.78, 0.8, 0.8, and 0.75, respectively. Six radiomics features were selected in this model to distinguish those with NH from the normal controls. The AUC for the training cohort was 0.97, with an accuracy of 0.92, a precision of 0.92, a sensitivity of 0.93, and a specificity of 0.90. The performance of the radiomics model was confirmed by testing the test cohort, and the AUC, accuracy, precision, sensitivity, and specificity were 0.97, 0.92, 0.96, 0.89, and 0.95, respectively. CONCLUSIONS: The proposed radiomics model based on traditional TI-weighted sequences may be used effectively for identifying ABE and even differentiating patients with NH from the normal controls, which can provide microcosmic information beyond experience-dependent vision and potentially assist in clinical diagnosis and treatment.
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Hiperbilirrubinemia Neonatal , Radiologia , Recém-Nascido , Humanos , Hiperbilirrubinemia Neonatal/diagnóstico por imagem , Algoritmos , Área Sob a Curva , Curva ROCRESUMO
Kresling pattern origami-inspired structural design has been widely investigated using its bistable property and the single coupling degree of freedom (DOF). In order to obtain new properties or new origami-inspired structures, it needs to innovate the crease lines in the flat sheet of Kresling pattern origami. Here, we present a derivative of Kresling pattern origami-multi-triangles cylindrical origami (MTCO) with tristable property. The truss model is modified based on the switchable active crease lines during the folding motion of the MTCO. Using the energy landscape obtained from the modified truss model, the tristable property is validated and extended to Kresling pattern origami. Simultaneously, the high stiffness property of the third stable state and some special stable states are discussed. In addition, MTCO-inspired metamaterials with deployable property and tunable stiffness, and MTCO-inspired robotic arms with wide movement ranges and rich motion forms are created. These works promote research on Kresling pattern origami, and the design ideas of the metamaterials and robotic arms play a positive role in improving the stiffness of deployable structures and conceiving motion robots.
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Tourette syndrome (TS) is a neurodevelopment disorder characterized by motor and phonic tics. We investigated the topological alterations in pediatric TS using morphological topological analysis of brain structures. We obtained three-dimensional T1-weighted magnetic resonance imaging (MRI) sequences from 59 drug-naïve pediatric patients with TS and 87 healthy controls. We identified morphological topographical alterations in the brains of patients with TS compared to those of the healthy controls via GRETNA software. At the global level, patients with TS exhibited increased global efficiency (E glob ) (p = 0.012) and decreased normalized characteristic path length (λ) (p = 0.027), and characteristic path length (Lp) (p = 0.025) compared to healthy controls. At the nodal level, we detected significant changes in the nodal betweenness, nodal degree, and nodal efficiency in the cerebral cortex-striatum-thalamus-cortex circuit. These changes mainly involved the bilateral caudate nucleus, left thalamus, and gyri related to tics. Nodal betweenness, nodal degree, and nodal efficiency in the right superior parietal gyrus were negatively correlated with the motor tic scores of the Yale Global Tic Severity Scale (YGTSS) (r = -0.328, p = 0.011; r = -0.310, p = 0.017; and r = -0.291, and p = 0.025, respectively). In contrast, nodal betweenness, nodal degree, and nodal efficiency in the right posterior cingulate gyrus were positively correlated with the YGTSS phonic tic scores (r = 0.353, p = 0.006; r = 0.300, p = 0.021; r = 0.290, and p = 0.026, respectively). Nodal betweenness in the right supplementary motor area was positively correlated with the YGTSS phonic tic scores (r = 0.348, p = 0.007). The nodal degree in the right supplementary motor area was positively correlated with the YGTSS phonic tic scores (r = 0.259, p = 0.048). Diagnosis by age interactions did not display a significant effect on brain network properties at either the global or nodal level. Overall, our findings showed alterations in the gray matter morphological networks in drug-naïve children with TS. These findings enhance our understanding of the structural topology of the brain in patients with TS and provide useful clues for exploring imaging biomarkers of TS.
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Background: Anaplastic lymphoma kinase (ALK)-positive histiocytosis is a rare type of histiocytosis that could affect multiple systems in children and adults. 10 cases of ALK-positive histiocytosis invading the central nervous system (CNS) have been reported. Herein, we report a case of ALK-positive histiocytosis invading the central nervous system and lungs and the details of follow-up of tumor dynamic changes during treatment. Case Presentation: An 18-month-old boy was underweight and had slow growth of almost 3 months duration. The child could not stand and walk independently, and his language and intelligence development occurred later than those of his peers. Cranial magnetic resonance imaging revealed a giant suprasellar lesion with isosignal, measuring approximately 5.1× 3.6× 4.0 cm on T1-weighted imaging, with an obvious mass effect. Nodular, slightly low-signal shadows were also observed in the left temporal pole and left hippocampus, measuring approximately 1.0 cm × 0.7 cm× 0.5 cm and 0.9 cm× 0.8 cm × 0.5 cm on T1-weighted, respectively. The child underwent partial resection of the suprasellar lesion, and a diagnosis of ALK-positive histiocytosis was made histologically. Subsequently, the patient received chemotherapy (CHOP regimen) and anti-ALK therapy (crizotinib). The lesions were gradually shrinking without dissemination and the changes of intracranial and lung lesions were monitored with imaging during therapy. Unfortunately, the child died 8 months after the first surgery because of worsening intracranial infection. Conclusion: ALK-positive histiocytosis may involve the central nervous system and disseminate intracranially. ALK-positive histiocytosis should be considered for the differential diagnosis of suprasellar lesions.
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Objective: Boys with Duchenne muscular dystrophy (DMD) are at risk of bone damage and low bone mineral density (BMD). The aim of the study is to examine lumbar BMD values measured by QCT and identify the factors associated with BMD loss using a multilevel mixed-effects model. Methods: Lumbar BMD was evaluated by quantitative computed tomography (QCT) at diagnosis, 1 and 2 years follow up in patients with DMD who were treated with GC. Demographic data, functional activity scores (FMSs), laboratory parameters and steroid use were recorded. A multilevel mixed-effects model was used to analyze BMD loss. Results: Nineteen patients with DMD who had a total of sixty complete records between January 2018 and October 2021 were retrospectively analyzed. At baseline, 15.8% of patients (3/19) had low lumbar BMD (Z score ≤ -2), and the mean BMD Z score on QCT was -0.85 (SD 1.32). The mean BMD Z score at 1 and 2 years postbaseline decreased to -1.56 (SD 1.62) and -2.02 (SD 1.36), respectively. In our model, BMD Z score loss was associated with age (ß=-0.358, p=0.0003) and FMS (ß=-0.454, p=0.031). Cumulative GC exposure and serum levels of calcium, phosphorus, 25(OH)-vitamin D and creatinine kinase did not independently predict BMD loss. Conclusions: This study demonstrates that in DMD patients, lumbar BMD decreased gradually and progressively. Age and FMS are the main contributors to BMD loss in boys with DMD. Early recognition of risk factors associated with BMD loss may facilitate the development of strategies to optimize bone health.
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Doenças Ósseas Metabólicas , Distrofia Muscular de Duchenne , Densidade Óssea , Doenças Ósseas Metabólicas/induzido quimicamente , Glucocorticoides/efeitos adversos , Humanos , Masculino , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/diagnóstico por imagem , Distrofia Muscular de Duchenne/tratamento farmacológico , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
Previous studies have demonstrated that the stability changes in physiological signals can reflect individuals' pathological conditions. Apart from this, according to system science theory, a large-scale system can generally be divided into many subsystems whose stability level govern its overall performance. Therefore, this study attempts to investigate the possibility of analyzing the stability of decomposed subsystems of resting-state fMRI (rs-fMRI) BOLD signals in order to assess the overall characteristic of the human brain and individuals' health conditions. We used attention deficit/hyperactive disorder (ADHD) as an example to illustrate our method. Rs-fMRI BOLD signals were first decomposed into dynamic modes (DMs) which can illuminate the patterns of brain subsystems. Each DM is associated with one eigenvalue that determines its stability as well as oscillation frequency. Accordingly, we divided the DMs within common BOLD frequency bands into stable and unstable DMs. Then, the features related to the stability of those DMs were extracted, and nine common classifiers were used to differentiate healthy controls from ADHD patients taken from ADHD-200, a well-known dataset. The results showed that almost all features were statistically significant. Additionally, our proposed approach outperforms all existing methods with the highest possible precision, recall, and area under the receiver operating characteristic curve of 100%. In sum, we are the first to evaluate the stability of BOLD signals and demonstrate its possibility for disease diagnosis. This method can unveil new mechanisms of brain function, and could be widely used in medicine and engineering.
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Encéfalo , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Humanos , Imageamento por Ressonância Magnética/métodosRESUMO
PURPOSE: Sevoflurane is a common used inhaled anesthetic that was reported to regulate the progression of multiple cancers. Here, we aimed to investigate the function and regulatory mechanism underlying sevoflurane in glioma cells. METHODS: A172 and U251 cells were treated with different concentrations of sevoflurane. Colony formation, EdU satining and 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide (MTT), flow cytometry, and transwell assays were performed to evaluate cell proliferation, apoptosis, migration and invasion, respectively. Circ_VCAN, microRNA-146b-5p (miR-146b-5p) and nuclear factor I B (NFIB) expression levels were assessed by real-time quantitative PCR (RT-qPCR) or western blot. Bioinformatics analysis and dual-luciferase reporter assay were applied to evaluate the correlation between miR-146b-5p and circ_VCAN or NFIB. A xenograft glioma mice model was established to verify the effect of sevoflurane on tumor growth in vivo. RESULTS: Sevoflurane (Sev) inhibited proliferation, migration, invasion, and elevated apoptosis of A172 and U251 cells. Sevoflurane treatment inhibited the expression of circ_VCAN and NFIB, but elevated the expression of miR-146b-5p in glioma cells. Overexpression of circ_VCAN alleviated the inhibition effects of sevoflurane on the malignant phenotypes of glioma in vitro and in vivo. Besides, miR-146b-5p is a target of circ_VCAN and negatively regulated NFIB expression. Overexpression of miR-146b-5p partly reversed the effects of circ_VCAN in Sev-treated glioma cells. Furthermore, miR-146b-5p deletion enhanced glioma progression in sevoflurane treated glioma cells by targeting NFIB. Moreover, circ_VCAN could upregulate NFIB expression by sponging miR-146b-5p in Sev-treated glioma cells. CONCLUSION: Sevoflurane alleviated proliferation, migration and invasion, but enhanced apoptosis of glioma cells through regulating circ_VCAN/miR-146b-5p/NFIB axis.
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Neoplasias Encefálicas , Glioma , MicroRNAs , Animais , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/metabolismo , Proliferação de Células , Glioma/tratamento farmacológico , Glioma/metabolismo , Humanos , Camundongos , MicroRNAs/genética , MicroRNAs/metabolismo , Fatores de Transcrição NFI/genética , Fenótipo , RNA Circular , Sevoflurano/farmacologia , Sevoflurano/uso terapêuticoRESUMO
BACKGROUND: Prenatal quantitative evaluation of myelin is important. However, few techniques are suitable for the quantitative evaluation of fetal myelination. PURPOSE: To optimize a modified Look-Locker inversion recovery (MOLLI) T1 mapping sequence for fetal brain development study. STUDY TYPE: Prospective observational preliminary cohort study. POPULATION: A total of 71 women with normal fetuses divided into mid-pregnancy (gestational age 24-28 weeks, N = 25) and late pregnancy (gestational age > 28 weeks, N = 46) groups. FIELD STRENGTH/SEQUENCE: A 3 T/MOLLI sequence. ASSESSMENT: T1 values were measured in pedunculus cerebri, basal ganglia, thalamus, posterior limb of the internal capsule, temporal white matter, occipital white matter, frontal white matter, and parietal white matter by two radiologists (11 and 16 years of experience, respectively). STATISTICAL TESTS: The Kruskal-Wallis test was used for reginal comparison. For each region of interest (ROI), differences in T1 values between the mid and late pregnancy groups were assessed by the Mann Whitney U test. Pearson correlation coefficients (r) were used to evaluate the correlations between T1 values and gestational age for each ROI. Intraobserver and interobserver agreement was determined by the intraclass correlation coefficient (ICC). A P value <0.05 was considered statistically significant. RESULTS: Interobserver and intraobserver agreements of T1 were good for all ROIs (all ICCs > 0.700). There were significant differences in T1 values between lobal white matter and deep regions, respectively. Significant T1 values differences were found between middle and late pregnancy groups in pedunculus cerebri, basal ganglion, thalamus, posterior limb of the internal capsule, temporal, and occipital white matter. The T1 values showed significantly negative correlations with gestational weeks in pedunculus cerebri (r = -0.80), basal ganglion (r = -0.60), thalamus (r = -0.68), and posterior limb of the internal capsule (r = -0.77). DATA CONCLUSION: The T1 values of fetal brain may be assessed using the MOLLI sequence and may reflect the myelination. EVIDENCE LEVEL: 3 TECHNICAL EFFICACY: Stage 2.
Assuntos
Encéfalo , Bainha de Mielina , Encéfalo/diagnóstico por imagem , Estudos de Coortes , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Lactente , Imageamento por Ressonância Magnética , Gravidez , Reprodutibilidade dos TestesRESUMO
BACKGROUND: To compare two tracer kinetic models in predicting of preoperative risk types in endometrial carcinoma (EC) using DCE-MRI. METHODS: A prospective study of patients with EC was conducted with institutional ethics approval and written informed consent. DCE-MRI data was analyzed using the extended Tofts (ET) and the distributed parameter (DP) models. DCE parameters blood flow (F), mean transit time, blood volume (Vp), extravascular extracellular volume (Ve), permeability surface area product (PS), extraction fraction, transfer constant (Ktrans), and efflux rate (Kep) between high- and low-risk EC were compared using the Mann-Whitney test. Bland-Altman analysis was utilized to compare parameter consistency and Spearman test to assess parameter correlation. Diagnostic performance of DCE parameters was analyzed by receiver-operating characteristic curve and compared with traditional MRI assessment. RESULTS: Fifty-one patients comprised the study group. Patients with high-risk EC exhibited significantly lower Ktrans, Kep, F, Vp and PS (P < 0.001). ET-derived Ktrans and DP-derived F attained AUC of 0.92 and 0.91, respectively. Bland-Altman analysis showed that the consistency of Ve or Vp between the two models was low (P < 0.001) while Spearman test showed a strong correlation (r = 0.719, 0.871). Both Ktrans and F showed higher accuracy in predicting EC risk types than traditional MRI assessment. CONCLUSIONS: Kinetic parameters derived from DCE-MRI revealed a more hypovascular microenvironment for high risk EC than to low- risk ones, providing potential imaging biomarkers in preoperative risk assessment that might improve individualized surgical planning and management of EC.