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OBJECTIVE To investigate the HRCT and MRI characteristic of external auditory canal cholesteatoma(EACC)in children.METHODS A total of 40 patients(45 lesions)with EACC confirmed by pathology were retrospectively analyzed with HRCT and MRI characteristics and clinical therapeutic value.Imaging findings of 40 patients(45 lesions)with EACC were retrospectively analyzed.RESULTS Soft tissues were found in all the external auditory canal(EAC).Of the forty-five soft tissues,7 manifested as inhomogeneous strip soft tissues and 38 as lesions solid soft tissues;30 located in medial part of the EAC and covered the tympanic membrane,while the other 15 presented as tympanic membrane perforation and involved the tympanic cavity.The MRI of the 3 ears showed high signal on T2/T1 iso-intensity,high signal on DWI,and low signal on ADC.Normal whole bony EAC was observed in 17 cases and enlarged medial EAC in 28 cases.Seven cases only involved in the superior wall,but 38 cases displayed as multiple bone wall involved,of which 6 involved in circumferential walls.Thirty-three cases displayed atactic ear bone margin,11 displayed blunted or disappeared drum shield plate.Destroy of long crus of incus and manubrium mallei occurred in 15 cases,of short crus of incus in 8 cases,of stapes in 2 cases,and mastoiditis in 5 cases.According to the pneumatization degree of mastoid air cell,37 cases were classified into pneumatic type,7 cases into mixed type,and the last one into diploic type.CONCLUSION The children EACC tends to be limited and rarely involved in middle ear and mastoid process.No patient with peri-ear infection was found.Application of HRCT and MRI help accurate location and determination of cholesteatoma.According to the extent of the lesion,selecting the appropriate surgical method is an effective method to remove cholesteatoma,improve hearing and reduce recurrence.
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Objective:To enhance comprehension of undifferentiated embryonal sarcoma of the liver(UESL)in children by analyzing ultra-sound,CT,and MRI imaging features.Methods:A retrospective analysis was conducted on 11 cases of UESL in children,confirmed through surgery and pathology,at the Children's Hospital,Affiliated Capital Institute of Pediatrics from December 2009 to December 2021.We ana-lyzed the ultrasound,CT,and MRI imaging features of all patients and summarized their characteristics.Results:All 11 cases presented with solitary hepatic masses ranging from 11.5 to 19.8 cm in diameter.Imaging manifestations of UESL correlated with component proportion and distribution within the masses.Lesions displayed clear boundaries in all cases.CT scans revealed mixed low density in 11 cases,with ir-regular floc soft tissue density shadows observed at the edge of cystic density areas or around partitions in a few cases.Ultrasound images of all six cases showed solid space-occupying masses,with varying sizes of anechoic regions within the solid mass.MRI T1WI showed mixed low intensity signal in three cases and strip/large high intensity signal areas in the lesion.T2WI revealed mixed high intensity signal and strip low intensity signal areas in 3 lesions.In the arterial phase,lesions displayed slightly to moderately heterogeneous strip/patch enhancement,primarily marginal enhancement in nine cases and thickened,tortuous arterial shadows in eight cases.In the delayed phase,lesions showed continuous uneven enhancement,with enhancement at the edge and peripheral-to-central filling observed in eight cases.Additionally,the enhancement range continuously increased in eight cases,with the false capsule sign identified in eight cases in the delayed stage.Conclu-sions:Imaging features of UESL in children exhibit distinct characteristics.Understanding these features,in conjunction with clinical findings,may aid in early diagnosis.
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Objective:To investigate the value of cranial ultrasound (CUS) globus pallidus to putamen gray ratio(G/P) in monitoring basal ganglia of neonatal hyperbilirubinemia.Methods:A retrospective analysis was performed on the CUS, magnetic resonance imaging (MRI, 46 cases) and clinical data of 69 neonates hospitalized in the Department of Neonatology of Children′s Hospital Affiliated to Capital Institute of Pediatrics from June 2022 to June 2023. UpToDate calculator was used to calculate the reference thresholds of phototherapy for each child, combined with the 342 μmol/L node value, the children were divided into control group, mild to moderate hyperbilirubinemia group and severe hyperbilirubinemia group; RadiAnt DICOM Viewer software was used to measure the ultrasound gray values of bilateral globus pallidus and putamen, and the ratio CUS (G/P) was calculated; MRI post-processing workstation was used to read T1 signal values of bilateral globus pallidus and putamen, and the ratio MRI (G/P) was calculated. The correlations between CUS (G/P) and total serum bilirubin (TSB)/ phototherapy threshold and TSB/ albumin ratio were analyzed; the consistency of CUS (G/P) and MRI (G/P) was analyzed; the difference of CUS (G/P) among control group, light-moderate hyperbilirubinemia group and severe hyperbilirubinemia group was compared.Results:①CUS (G/P) was positively correlated with TSB/ phototherapy threshold and TSB/albumin ( rs=0.721, 0.600, all P<0.001). ②CUS (G/P) value was consistent with MRI (G/P) value (τ=0.743, P<0.05). ③CUS(G/P) value increased sequentially in the control group, mild-moderate hyperbilirubinemia group, and severe hyperbilirubinemia group, and the differences between each two groups were statistically significant (all P<0.05). Conclusions:CUS (G/P) has dose-response relationship with TSB, diagnostic agreement with MRI (G/P) value, and shows differences in different levels of bilirubin, and can be used to monitor intracranial basal ganglia in neonatal hyperbilirubinemia.
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Objective:To explore the MR enterography (MRE) features of intestinal Behcet disease (BD) and Crohn disease (CD) in pediatric patients.Methods:This study was a cross-sectional study. The BD patients and CD patients were retrospectively enrolled from Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2019 to October 2022. There were 17 children with intestinal BD, including 6 males and 11 females, aged 5-12 (8.4±2.6) years, and 23 children with CD, including 15 males and 8 females, aged 7-15 (10.2±2.7) years. The MRE images were observed, and the evaluation contents included the diseased intestine (terminal ileum, ileum+ascending colon, ileum+ascending colon+transverse colon, whole colon), the form of intestinal wall thickening (uniform/eccentric thickening), MRI signal (fat suppression T 2WI, DWI), the enhancement mode (uniform/layered enhancement), intestinal stenosis, intestinal dilatation, mesentery comb sign, mesentery fatty fibrosis, lymph node enlargement, and the extraintestinal complication (anal fistula, fluid collection). The comparison of MRE signs between groups was performed using the χ2 test or Fisher exact test. Results:All children were completed MRE examination with good intestinal filling, and no adverse reactions. The significant differences were found in the scope of the diseased bowel, the form of intestinal wall thickening, DWI signal, intestinal dilatation, lymph node enlargement, anal fistula and fluid collection between the intestinal BD and CD patients ( P<0.05), while no significant differences were found in the fat suppression T 2WI signal, enhancement mode of the lesion, intestinal stenosis, mesentery comb sign, and mesentery fatty fibrosis ( P>0.05). Conclusion:MRE is safe and effective, and there are certain significantly different MRE features between children with intestinal BD and CD.
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Objective:To investigate the prevalence, distribution, and prognosis of knee joint bone marrow edema (BME) in children with juvenile idiopathic arthritis (JIA).Methods:From January 2017 to December 2019, 128 JIA children in the Children′s Hospital, Capital Institute of Pediatrics were analyzed retrospectively, and 136 knees were included totally. BME was evaluated and counted from eight regions according to the juvenile arthritis MRI scoring system (JAMRIS). Chi-square test, independent sample t test or Mann-Whitney U test were used to compare the clinical characteristics between BME group (36 cases) and non-BME group (92 cases). The prognosis of BME were observed. Results:BME was found in 37 of 136 knee joints (27.2%). The ages of the children in BME group and non-BME were (8±4) and (6±4) years old, and the disease duration were 9 (3, 22) and 4 (2, 18) months, respectively, both with statistically significant differences (age: t=-2.63, P=0.010; duration: Z=-5.78, P=0.013). In 23 joints (62.2%,23/37), BME occurred at multiple locations simultaneously in the knee. Locations with BME, according to the frequency of involvement from most to least, were the lateral tibial plateau with 17, the lateral weight-bearing femur with 16, the medial tibial plateau and the medial femoral condyle both with 15, the medial weight-bearing femur with 12, the lateral femoral condyle with 8, the lateral patella with 7, and the medial patella with 5. The MRI score of most of medial femoral conclyle was 1(7/15). Of the 15 BME joints with the MRI follow-up data with interval (7±3) months, BME disappeared in 10 joints, improved in 3 joints and progressed in 2 joints within 12 months after the treatments. Conclusions:There is a low incidence of BME in JIA affected knee joint. Older children and the children with long disease duration have a higher risk for BME, and more likely involved the weight-bearing surfaces of the joint. The overall prognosis is satisfactory after the standard treatments.
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Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3,260 COVID-19 patients with respiratory failure and 12,483 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a highly pleiotropic [~]0.9-Mb inversion polymorphism and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.
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BackgroundRespiratory failure is a key feature of severe Covid-19 and a critical driver of mortality, but for reasons poorly defined affects less than 10% of SARS-CoV-2 infected patients. MethodsWe included 1,980 patients with Covid-19 respiratory failure at seven centers in the Italian and Spanish epicenters of the SARS-CoV-2 pandemic in Europe (Milan, Monza, Madrid, San Sebastian and Barcelona) for a genome-wide association analysis. After quality control and exclusion of population outliers, 835 patients and 1,255 population-derived controls from Italy, and 775 patients and 950 controls from Spain were included in the final analysis. In total we analyzed 8,582,968 single-nucleotide polymorphisms (SNPs) and conducted a meta-analysis of both case-control panels. ResultsWe detected cross-replicating associations with rs11385942 at chromosome 3p21.31 and rs657152 at 9q34, which were genome-wide significant (P<5x10-8) in the meta-analysis of both study panels, odds ratio [OR], 1.77; 95% confidence interval [CI], 1.48 to 2.11; P=1.14x10-10 and OR 1.32 (95% CI, 1.20 to 1.47; P=4.95x10-8), respectively. Among six genes at 3p21.31, SLC6A20 encodes a known interaction partner with angiotensin converting enzyme 2 (ACE2). The association signal at 9q34 was located at the ABO blood group locus and a blood-group-specific analysis showed higher risk for A-positive individuals (OR=1.45, 95% CI, 1.20 to 1.75, P=1.48x10-4) and a protective effect for blood group O (OR=0.65, 95% CI, 0.53 to 0.79, P=1.06x10-5). ConclusionsWe herein report the first robust genetic susceptibility loci for the development of respiratory failure in Covid-19. Identified variants may help guide targeted exploration of severe Covid-19 pathophysiology.
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Objective: To observe intracranial imaging manifestations of PHACES syndrome. Methods: Imaging data of 9 children with PHACES syndrome who met the diagnostic criteria were retrospectively analyzed, including craniocerebral MRI of 4 cases, enhanced CT of 3 cases as well as enhanced CT and MRI of 2 cases, and whether there were abnormal intracranial vessels, brain structures and other accompanying abnormalities were observed. Results: Six cases were found with intracranial vascular abnormalities, including 2 cases of unilateral internal carotid artery dysplasia, 1 case of unilateral internal carotid artery dysplasia with ipsilateral middle cerebral artery stenosis, 1 case of unilateral internal carotid artery absence with cystic aneurysm in the origin of posterior cerebral artery, 1 case of proatlantal intersegmental artery and 1 case of primitive ophthalmic artery. Abnormal brain structures in the posterior cranial fossa were detected in 8 cases, including 6 cases of unilateral cerebellar dysplasia and 2 cases of Dandy-Walker malformation, while intracranial hemangioma located in the cerebellopontine angle but not associated with subcutaneous hemangioma were noticed in 6 cases. There were 6 cases of intraorbital hemangioma, 5 of which were accompanied by ipsilateral intracranial hemangioma but not connected. Supratentorial hydrocephalus was found in 3 cases. Conclusion: Unilateral cerebellar dysplasia and abnormal internal carotid artery are the most common intracranial manifestations of PHACES syndrome. Intracranial hemangioma is not uncommon among children with PHACES syndrome.
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Objective: To examine the efficacy and safety of pemetrexed plus apatinib for the treatment of advanced non-squamous non-small cell lung cancer (NSCLC) in elderly patients. Methods: Between January 2016 and June 2017, 38 elderly patients with ad-vanced non-squamous NSCLC from Qingdao Municipal Hospital were examined. All patients received first-or second-line therapy. The inclusion criteria were an age of≥65 years, physical status score of 0-2, and expected survival time of>3 months. Eighteen patients were assigned to the test group, and the remaining 20 patients were assigned to the control group. The patients in the test group were treated with pemetrexed plus apatinib, pemetrexed 500 mg/m2 on day 1 and apatinib 250 mg/d on days 1-21. The control group re-ceived pemetrexed in a 21-day cycle until the disease progressed or intolerable adverse reactions developed. The study was reviewed and approved by the medical ethics committee of Qingdao Municipal Hospital. Results: The disease control rates in the test and con-trol groups were 72.2% and 35%, respectively, with a statistically significant difference (χ2=5.265, P=0.022). The median progression-free survival time (PFS) in the test and control groups were 5.7 months [95% confidence interval (CI): 2.8-8.6] and 3.1 months (95% CI:2.7-3.5), with a statistically significant difference (χ2=4.01, P=0.045). The difference in the incidence of hand-foot syndrome and hyper-tension between the two groups was statistically significant (P=0.007 and P=0.016, respectively), with side effects of 1 or 2 degree in most cases, which was acceptable. Conclusions: Pemetrexed plus apatinib has a definite curative effect on advanced NSCLC, with con-trollable adverse reactions.
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Objective To analyze the clinical characteristics and genetic variation of megalencephalic leu-koencephalopathy with subcortical cysts(MCL),then to explore the genetic characteristics so as to help families by pro-viding genetic counseling. Methods The clinical data of the children and their family members were collected,and the peripheral blood DNA of the children and family members were extracted. Then,the MLC1 gene mutation in the children was detected by using the target sequence capture high-throughput sequencing technology and Sanger sequencing tech-nology. Results (1)MCL often presented abnormal head circumference in infants as the first symptom. The main clini-cal manifestations were hypoevolutism in motor development,retrogression of early school age,then the movement disor-der progressed and finally paralyzed;epilepsy was common in early childhood;head magnetic resonance imaging showed white matter in bilateral cerebral hemisphere diffusing abnormal signal with temporal lobe cystic change in the early stage,and then showed brain atrophy. (2)The gene results showed that the 2 girls with MLC had both c. 368C >T (p. Thr123Ile)and c. 353C > T (p. Thr118Met)complex heterozygous variation,which existed in the MLC1 gene. The girls′ father and a sister carried c. 368C > T (p. Thr123Ile),while the mother carried c. 353C > T (p. Thr118Met) heterozygous variation,all of whom were normal phenotypes. Conclusions MCL is one cause of hypoevolutism in motor development in children and abnormal head circumference of infants is usually the first symptom. The MLC1 gene c. 368C> T(p. Thr123Ile)is a pathogenic mutation for MLC,and may be another new pa-thogenic mutation.
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Objective To detect the differences of grey matter volume between the patients with mental retardation (MR) presented clinically as operation deficit (OD) or as language deficit (LD) and the children with typical normal development using optimal VBM.The developmental connections between brain gray matter and language or operation skills were examined.Methods Magnetic resonance imaging was obtained from 9 children with mental retardation presented as OD predominantly and 11 children with mental retardation presented as LD mainly,as well as the age-matched control group (11 and 14 normal children,respectively) on a 1.5 T scanner.Voxel-based morphometry analysis with an optimization of spatial segmentation and normalization procedures was applied to compare the volume of grey matter between the two groups (OD VS.control; LD VS.control).Statistically,the total and local gray matter volumes were compared between the two groups with t test.Results The total gray matter volume of OD group was [(1.030 ± 0.078) × 106 mm3].Compared to that of controls [(0.984 ± 0.058) × 106 mm3],it was increased significantly (t =-2.6,P ＜ 0.05).And the gray matter volume in the posterior cingulated gyrus,left superior prefrontal gyrus,left cuneus,left middle prefrontal gyrus and the body of left caudate nucleus showed significantly increased.Meanwhile,the total gray matter volume of the MR children presented as LD [(1.002 ± 0.068) × 106 mm3] showed significantly increased(t =-3.0,P ＜ 0.05) compared with that of control group [(0.957 ±0.057) × 106 mm3].The gray matter volume in bilateral thalami,the left inferior temporal gyrus,the left inferior frontal gyrus,and the left cerebellum of the LD group was more than that of normal children.Conclusion As revealed by VBM,there are differences in alterations of gray matter volume between MR children presented with OD and with LD relative to control.
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Objective To detect brain structural difference between children with unexplained mental retardation and children with typically normal development. Methods The high-resolution magnetic MR imaging were obtained from 21 children with unexplained mental retardation and 30 age-matched control children without intellectual disabilities. Voxel-based morphometry analysis with an optimization of spatial segmentation and normalization procedures were applied to compare differences of gray matter volume between the two groups. The total and regional gray matter volume were compared between the two groups with independent t test. Meanwhile, correlation was conducted to analyze the relationship between the total gray matter volume and intelligence quotient (IQ) with partial correlation test. Results The total gray matter volume was significantly increased in the mental retardation children [(1. 012 ±0. 079) × 106 mm3]in relative to the controls [(0. 956 ± 0. 059) × 106 mm3, t = - 2. 80, P ＜ 0. 05]. Compared to controls,children with unexplained mental retardation showed significantly increased gray matter volume in different regions, including the bilateral thalami, the bilateral superior frontal gyri, the bilateral gyri rectus, the bilateral temporal poles, the right inferior frontal gyrus, right parahippocampal gyrus and the right cerebellum. No correlation was detected between the total gray matter volume and IQ in children with mental retardation (r = 0. 078 ,P ＞ 0. 05). Conclusions VBM would detect the gray matter abnormalities that were not founded in routine MR scanning. The increase of gray matter volume in the frontal-thalamus network might indicate the delayed maturation of the brain development. This might be one of the causations of mental retardation in children.