Case report of compound oxidative phosphorylation deficiency type 10 caused by a new site mutation of MTO1 gene / 中华实用儿科临床杂志

The clinical data of a case of compound oxidative phosphorylation deficiency type 10 (COXPD10) caused by a new site mutation of MTO1 gene in the Department of Pediatrics, Affiliated Hospital of Southwest Medical University on December 29, 2020 were retrospectively analyzed.The patient was a 2 months and 19 days old boy of Han nationality.The main clinical manifestations were shortness of breath, hyperlactic acidemia, hyperammonemia and brain damage.Cardiac hypertrophy was not obvious.Heterozygous mutations at c. 344delA and c. 1055C>T sites in the MTO1 gene have not been reported in domestic and foreign literature.COXPD10 caused by MTO1 gene mutations may result in diversified clinical manifestations due to inconsistent mutation sites.For hyperlactic acidemia with unknown predisposing factors, early genetic examination should be conducted to confirm the possibility of COXPD10.

Emergency multimodal computed tomography for the diagnosis of stroke mimic--epileptic seizure

@#Background and Objectives: Stroke mimics are medical conditions producing stroke-like symptoms but eventually get diagnosed as non-stroke diseases. Epileptic seizure is a common type of stroke mimic. The purpose of this study is to investigate the application of emergency multimodal computed tomography (CT) in the diagnosis of epileptic seizure. Methods: We retrospectively reviewed the case group of patients with suspected stroke in the emergency stroke care service of the First Affiliated Hospital of Suzhou University from September 2017 to October 2019. We included those who underwent multimodal CT, including non-contrasted cranial CT, CT perfusion with CT angiography, and were ultimately diagnosed as epileptic seizures. Ten patients with acute anterior circulation ischemic stroke were assigned as controls. Results: A total of five cases met the inclusion criteria. Multimodal CT was completed within 2.25 to 3.50h from symptom onset. On CT perfusion, hyperperfusion was shown in four cases and slightly increased perfusion in one case with epileptic seizures. Cerebral blood flow and cerebral blood volume were significantly increased, while time to peak and mean transit time decreased in the regions of interest of the epileptic hemisphere when compared to either the non-affected hemisphere or the ischemic area in the control group (P<0.05). The abnormal perfusion areas did not follow vascular territory supply and CT angiography did not show vessel occlusion in the case group. Conclusion: Emergency multimodal CT could be used effectively to differentiate epileptic seizure from stroke.

The application study on DWI monoexponential and biexponential signal decay analysis in the diagnosis of hepatocellular carcinoma / 实用放射学杂志

Objective To evaluate mono-and bi-exponential decay models in the diagnosis of hepatocellular carcinoma (HCC). Methods 28 patients with HCC who underwent conventional MRI imaging and diffusion-weighted imaging were collected,and all the HCC lesions were proved by operation pathology.The ADC values in mono-exponential decay model and ADCst ,ADCslow , ADCfast and ffast of the lesions in bi-exponential decay model were measured through the reconstruction of ADCmap ,ADCslow map, ADCfast map and fraction of fast ADC at a workstation.The relationships between the ADC values with low,medium and high b-val-ues and different differentiation degrees of HCC were analyzed.Moreover,the relationships between the ADCst ,ADCslow ,ADCfast , ffast values and HCC defferentiation grades were also explored.Results Significant differences in ADC value were found among differ-ent degrees of HCC differentiation in middle and high b-value groups (P <0.05).A positive correlation was found between the ADC value and the degree of HCC differentiation in middle (r=0.377,P <0.01)and high b-value group (r =0.81 5,P <0.01).There were no significant differences in ADC value among the different degrees of HCC differentiation in low b-value group.There were significant differences in the values of ADCst ,ADCslow and ADCfast among different degrees of HCC differentiation.Significant posi-tive correlations were found between the values of ADCst ,ADCslow and ADCfast and the degree of differentiation (P <0.01).There were no significant differences in the values of ffast among different degrees of HCC differentiation.Conclusion ADC value in mono-exponential decay model plays a potential role in the diagnosis of different differentiation degree of HCC with a b value ≥400 s/mm2 .Furthermore,the parameters in bi-exponential decay model,especially the values of ADCst ,ADCslow and ADCfast ,can provide new and unique information in the distinction of different degrees of HCC differentiation.

Imaging diagnosis of granulocytic sarcoma / 实用放射学杂志

Objective To summarize radiographic manifestations of granulocytic sarcoma (GS),in order to investigate its radio-graphic feature.Methods Nine patients of GS confirmed by surgery pathology and immunohistochemistry were collected.There were four cases underwent CT scan,2 underwent MRI,3 underwent CT and MRI meanwhile.Results There were 4 cases in the lymph nodes,4 cases in the bone,1 case in the enterocoelia.The density of enlarged lymph node was inhomogeneous,and smaller lymph node was homogeneous density,both enhanced obviously.The density or intensity of the lesions occurred in the canalis verteb-ralis and paravertebra was also homogeneous,slightly enhanced,with bone and medulla ossea invasion.Lesions in the enterocoelia was inhomogeneous desity with clear boundary,enhanced inhomogeneously.Conclusion GS is a rare extramedullary malignant tumor composed of immature myeloid cells.CT and MRI can provide a certain diagnostic value.The perplexity in diagnosing such lesions highlighted the need of careful interpretation of all clinacal,radiographic,histopathological and immunochistochemical details as it is one of the most frequently misdiagnosed disorder.