[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.

Evaluation of the development of the posterior fossa in normal Chinese fetuses by using magnetic resonance imaging.

The posterior fossa is an important brain structure containing the cerebellum, cerebral ventricle, and cistern. Early evaluation of the cerebellar structure and function may be valuable for early detection of fetal deformities. At present, no normal value for the fetal posterior fossa has been established yet. This study is aimed to investigate the development of the posterior fossa in normal Chinese fetuses by using magnetic resonance imaging (MRI).Pregnant women who need MRI scan were enrolled in our Hospital between January 2012 and December 2014. The fetal supero-inferior diameter (SID), anterio-posterior diameter (APD), cerebellar vermis area, cerebellar width (CW), cerebellar volume (CV), superior cerebellar cistern width, and cerebellomedullary cistern width were measured using MRI. Pearson's correlation analysis was used to detect the relationship between those parameters and gestational age. A regression analysis was performed for all parameters.A total of 92 participants were retrospectively enrolled finally. The results indicated SID, APD, cerebellar vermis area, CW, and CV were positively associated with gestational age, while no significant correlation was found between the superior cerebellar cistern width and cerebellomedullary cistern width and gestational age. Each equation was established.Our study demonstrated that MRI has the advantages over ultrasound imaging for prenatal evaluation of the fetal posterior fossa with multiple views. Normal value of the posterior fossa of Chinese fetuses was established in this study.

The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome.

AIM: To analyze the clinical outcome and neuroimaging over a long duration follow-up in the currently largest series of acute encephalopathy after status epilepticus in patients with Dravet syndrome. METHOD: Clinical and neuroimaging data of patients with Dravet syndrome with a history of acute encephalopathy (coma >24h) after status epilepticus from February 2005 to December 2016 at Peking University First Hospital were reviewed retrospectively. RESULTS: Thirty-five patients (15 males, 20 females) with a history of acute encephalopathy were enrolled from a total of 624 patients with Dravet syndrome (5.6%). The median onset age of acute encephalopathy was 3 years 1 month. The duration of status epilepticus varied between 40 minutes to 12 hours. Thirty-four patients had a high fever when status epilepticus occurred, and only one had a normal temperature. Coma lasted from 2 to 20 days. Twelve patients died and 23 survived with massive neurological regression. The median follow-up time was 2 years 1 month. Neuroimaging of 20 out of 23 survivors during the recovery phase showed diverse degrees of cortical atrophy with or without subcortical lesions. INTERPRETATION: Acute encephalopathy after status epilepticus is more prone to occur in patients with Dravet syndrome who had a high fever. The mortality rate is high in severe cases. Survivors are left with severe neurological sequelae but often with either no seizure or low seizure frequency. WHAT THIS PAPER ADDS: Acute encephalopathy is more prone to occur in patients with Dravet syndrome with a high fever. The mortality rate is high for acute encephalopathy after status epilepticus in patients with Dravet syndrome. Survivors have neurological sequelae.

Prenatal diagnosis and genetic discoveries of an intracranial mixed neuronal-glial tumor: A case report and literature review.

BACKGROUND: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. CASE REPORT: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis. No other associated malformations were detected. Prenatal magnetic resonance imaging (MRI) which was taken subsequently confirmed the result of ultrasound and provided more detailed information such as fetal brain dysplasia.The fetal chromosomal karyotype analysis is normal. Single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) detected a 0.72-Mb duplication at 4q35.2 in fetus which was associated with epilepsy and cardiac anomalies. It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease.The parents chose termination of pregnancy (TOP). The histological examination showed a mixed neuronal-glial tumor. CONCLUSION: Prenatal detection of mixed neuronal-glial tumor is very rare. Ultrasound is of critical importance to detect the intracranial tumors, and MRI can give us some detailed information about the tumors. However, the precise histologic type was depended on the pathological examination. CMA should be necessary for the fetuses with congenital intracranial tumors, especially when the fetal chromosomal karyotype analysis is normal.

[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.

Disseminated encephalomyelitis-like central nervous system neoplasm in childhood.

A malignant neoplasm in the central nervous system with diffuse white matter changes on magnetic resonance imaging (MRI) is rare in children. It could be misdiagnosed as acute disseminated encephalomyelitis. This report presents our experience based on 4 patients (3 male, 1 female; aged 7-13 years) whose MRI showed diffuse lesions in white matter and who were initially diagnosed with acute disseminated encephalomyelitis. All of the patients received corticosteroid therapy. After brain biopsy, the patients were diagnosed with gliomatosis cerebri, primitive neuroectodermal tumor and central nervous system lymphoma. We also provide literature reviews and discuss the differentiation of central nervous system neoplasm from acute disseminated encephalomyelitis.