[Endometrial Injury and Preservation after Magnetic Resonance-guided Focused Ultrasound Ablation of Uterine Fibroids].

Objective To explore the risk factors for incident endometrial injury and 3-month endometrial injury after magnetic resonance-guided focused ultrasound(MRgFUS)ablation of uterine fibroids(UF). Methods UF patients who were diagnosed in Peking Union Medical College Hospital and underwent MRgFUS ablation in Amcare Women's and Children's Hospital from August 2016 to October 2020 were retrospectively enrolled in this study.Clinical data of 66 UF patients were collected and compared between endometrial injury group and non-injury group.Stepwise regression was employed to determine the risk factors for the incident endometrial injury and 3-month endometrial injury.Multivariate logistic regression analysis was performed to explore the relationship of endometrial injury with age,pre-ablation tumor size,multiple UF,International Federation of Gynecology and Obstetrics(FIGO)classification,T2WI signal intensity,and treatment time.Results In terms of incident endometrial injury,the 66 patients included 41(62.1%)cases with no injury,4 cases(6.1%) with grade 1 injury,5 cases(7.6%)with grade 2 injury,and 16 cases(24.2%)with grade 3 injury.In terms of 3-month endometrial injury,the 66 patients included 49 cases(74.2%)with no injury,5 cases(7.6%)with grade 1 injury,2 cases(3.0%)with grade 2 injury,and 10 cases(15.2%)with grade 3 injury.Stepwise regression analysis indicated that FIGO classification was significantly associated with incident endometrial injury(B=-0.121,SE=0.045,ß=-0.326,t=-2.670,P=0.010)and 3-month endometrial injury(B=-0.125,SE=0.042,ß=-0.375,t=-2.989,P=0.004).Multivariate logistic regression analysis showed that FIGO classification was an independent risk factor for incident endometrial injury[OR=0.518(0.307-0.873),P=0.014]and 3-month endometrial injury[OR=0.456(0.253-0.824),P=0.009].Conclusions Endometrial injury could be controlled after MRgFUS ablation of UF and recover to some extent after 3 months.FIGO classification was an independent risk factor for both incident and 3-month endometrial injury.

[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].

Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2 months. Three day later, she had respiratory distress and consciousness. Cranial MRI revealed bilateral symmetrical lesion of pallidum, brain stem and spinal cord, indicating acute brainstem encephalitis and myelitis. Her blood propionylcarnitine (6.83 µmol/L vs normal range 1.0 to 5.0 µmol/L) and urinary methylmalonic acid (133.22 mmol/mol creatinine vs normal range 0.2 to 3.6 mmol/mol creatinine) increased significantly. Plasma total homocysteine was normal. On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type). After cobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine, progressive improvement has been observed. The clinical manifestation of patients with methylmalonic aciduria is complex. Metabolic study and gene analysis are keys for the diagnosis and treatment of the disorder.

Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.

BACKGROUND: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. METHODS: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed. RESULTS: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3. CONCLUSIONS: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identified in the three children, three of which were novel mutations.

Underdevelopment of optic radiation in children with amblyopia: a tractography study.

PURPOSE: To detect the abnormalities of the optic radiation (OR) in children with amblyopia by diffusion tensor imaging (DTI) and tractography. DESIGN: Prospective, nonrandomized clinical trial. METHODS: Fourteen children with amblyopia and 14 normally sighted children underwent DTI scanning. After the ORs were reconstructed by using tractography algorithm, voxels through which the anterior parts of ORs passed were determined for their values of fractional anisotropy (FA). The paired t test was applied to compare their mean FA values of right OR and left OR in the control group. For the amblyopia group, analysis of variance was conducted to determine the effect of laterality and vision status on the FA values. In addition, the voxel numbers of anterior and posterior parts of both ORs were calculated. The Student t test was used to compare the average FA of bilateral ORs and voxel numbers between the two groups. RESULTS: Comparison demonstrated left-higher-than-right asymmetry in both amblyopic children and normal children. We found no significant difference of average FA between the amblyopic group (0.4832 +/- 0.0225) and control group (0.4770 +/- 0.0273). Voxel numbers of the anterior parts of both ORs were not significantly different between the two groups, whereas voxel numbers of their posterior parts in the controls were more than that of amblyopic children. CONCLUSION: Tractography showed more voxels in the posterior ORs of normal children than in the amblyopic children, indicating that normal children have better development of the ORs. The underdevelopment of the ORs might reflect the dysfunction of visual cortex in children with amblyopia.

Detection of abnormal visual cortex in children with amblyopia by voxel-based morphometry.

PURPOSE: To detect the abnormalities of gray matter in children with amblyopia by voxel-based morphometry (VBM). DESIGN: Prospective, nonrandomized clinical trial. METHODS: Thirteen children with amblyopia and 14 normally sighted children underwent magnetic resonance (MR) examination. The two groups were age-matched with a mean age of 5.8 years. In the amblyopia group, five children had strabismus amblyopia, and eight had anisometropic amblyopia. We analyzed the original 3-dimensional T1 brain images using the VBM module within the widely used analysis software package SPM2 (Welcome Department of Cognitive Neurology, London, United Kingdom). After normalization, segmentation, and smoothing of the images, comparison between amblyopic and control groups was derived for the gray matter of the entire brain using parametric statistics. RESULTS: The results of VBM analysis indicated that the amblyopic group had decreased gray matter density in the middle frontal gyrus, parahippocampal gyrus, fusiform gyrus, inferior temporal gyrus of the left hemisphere, and the bilateral calcarine cortices. The radii of these regions ranged from 12 to 36 voxels. These abnormalities were consistent with morphologic changes in brain regions related to visual function. CONCLUSIONS: Using MR and VBM analysis, we detected morphologic changes in the visual cortex of children with amblyopia, which may indicate developmental abnormalities of visual cortex during the critical growth period.