Objective:To study the survival and prognostic factors for the recurrent extracranial malignant germ cell tumors (MGCTs) in children, and to explore feasible salvage treatment.Methods:A retrospective study.Pediatric patients with recurrent extracranial MGCTs diagnosed in Shanghai Children′s Medical Center between January 2010 and January 2020 were retrospectively recruited.Comprehensive treatment regimens included surgery, chemotherapy and radiation.Kaplan-Meier survival analysis and Cox regression model were employed to analyze the survival and prognostic factors for children with recurrent extracranial MGCTs.Results:A total of 172 children with extracranial MGCTs were treated, including 21 (12.2%) recurrent cases.The median time of MGCT recurrence after the end of the first treatment was 11 months.Finally, 19 patients were recruited after excluding 2 non-eligible cases, including 10 boys and 9 girls with the age at recurrence of 26 (8-170) months.The follow-up time was 57 (13-122) months.Salvage chemotherapy, complete resection and radiotherapy were performed in 16, 14 and 4 patients, respectively.The 4-year overall survival (4yr-OS) rate was (82.5±9.2)%(19 cases). The 4yr-OS rate was significantly higher in patients managed with surgery but without adjuvant chemotherapy at the initial treatment (13 cases) than those managed with chemotherapy at the initial treatment (6 cases)[(92.3±7.4)% vs.(60.0%±21.9)%, P=0.002]. Univariant and Cox multivariant regression analyses showed that failure to achieve the normal range of alpha fetoprotein after 3 cycles of chemotherapy significantly influenced the survival of recurrent extracranial MGCTs. Conclusions:For patients with recurrent extracranial MGCTs, comprehensive treatment approaches like complete surgical resection, chemotherapy, and radiotherapy offer a favorable survival rate.Specifically, recurrent and re-treated patients who initially received surgery alone without adjuvant chemotherapy have a higher survival rate compared to those who received chemotherapy during the initial treatment.

Objective To analyze the thyroid hormone levels in patients with acute ischemic stroke (AIS) and non-valvular atrial fibrillation (NVAF). Methods A total of 121 patients with AIS were selected, and were divided into NVAF group (AIS patients with NVAF) and control group (AIS patients without atrial fibrillation). Serum levels of triiodothyronine (T₃), free triiodothyronine (FT₃), thyroxine (T₄), free thyroxine (FT₄) and thyroid stimulating hormone (TSH) in two groups were measured and compared. The survival of the two groups was compared. Results The serum T₃ level in the NVAF group was significantly lower than that in the control group (P < 0.05). There were no significant differences in serum FT₃, T₄, FT₄ and TSH levels between the two groups (P>0.05). There was no significant difference in survival between the two groups (P>0.05). Conclusion NVAF is associated with serum T₃ levels in AIS patients. There is no correlation between the risk of death and NVAF in AIS patients.

Objective:To investigate the imaging and clinical characteristics of posttransplantation lymphoproliferative disorders (PTLD) after liver transplantation in children.Methods:From February 2017 to November 2020, the imaging and clinical data of 17 children with PTLD after liver transplantation confirmed by pathology or clinical diagnosis were retrospectively analyzed in Shanghai Children′s Medical Center, School of Medicine, Shanghai Jiao Tong University. The site, range, density/signal/echo of the lesions were observed.Results:The mean age at transplantation was 8 (7, 11) months, and 14 patients were younger than 1 year old. The interval between liver transplantation and PTLD diagnosis was 22 (10, 34) months, ranging from 3 to 54 months. The interval was less than 1 year in 6 patients (early onset) and equal or greater than 1 year in 11 patients (late onset). Fifteen patients had Epstein-Barr virus infection. Among the 12 pathologically confirmed PTLD cases, 8 cases were diffuse large B-cell lymphoma, 3 cases were Burkitt lymphoma, and 1 case was reactive plasma cell hyperplasia. Among the 17 children with PTLD, 8 cases demonstrated involvement of lymph nodes and 16 cases had extranodal involvement. The latter included 15 cases of abdominal involvement. Abdominal sites involved included small intestine in 14 cases, colon in 7 cases, mesentery in 4 cases, kidney in 3 cases, liver in 2 cases, abdominal lymph nodes in 2 cases, peritoneum in 1 case, and stomach in 1 case. The sites of extra-abdominal involvement included lymph nodes in 7 cases, lung in 3 cases, skull in 1 case, brain in 1 case, pleura in 1 case, chest wall in 1 case, and nasopharynx in 1 case. The most common abdominal imaging abnormalities were thickening of the intestinal wall, eccentric mass and dilation of the lumen. Both small intestines and colons could be involved, and the former more commonly. Multiple masses were found in patients with liver and kidney involvement. The most common imaging manifestation of PTLD outside the abdomen was lymph node enlargement, which was found in 7 cases, and the most common was in the neck. The manifestation was shorter diameter of lymph nodes>10 mm, uniform density and signal, with mild enhancement.Conclusions:PTLD can occur months to years after liver transplantation in children, which can affect many parts of the whole body. Extranodal lesions are more than intranodal lesions. Abdominal involvement is most common in PTLD, and the infection rate of EB virus is high. Combined with medical history, EB virus infection status and imaging examination are helpful for early diagnosis.

Medical information registration of rare disease cases serves as scientific basis for development of population intervention strategy, improvement of medical service system, better patient medical support level, and higher medicine accessibility. Based on their hospital work, the authors introduced the development practice of an all-dimensional management system for such information registration, in terms of formulating policies, establishing organizational structure, organizing and publicizing policies for the medical service of rare diseases, maintaining registration data and so on, so as to provide the reference for the management of registration work of rare diseases.

Objective: To investigate the radiographic manifestations and clinical relevance to central nervous system complications of leukemia (CNSCL)in children. Methods: The CT and magnetic resonance imaging(MRI) fin-dings and clinical features of 49 pediatric patients with CNCSL in Shanghai Children′s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine from May 2010 to June 2018 were retrospectively analyzed. Results: (1) Cerebrovascular abnormalities in 23 cases included hemorrhage(20 cases), infarction(2 cases) and sinus thrombosis(1 case). One case of epidural hematoma and 19 cases of intracerebral multiple bleeding were seen in the hemorrhage group, which demonstrated high-density on CT and different signal on MRI as time went by.Microhe-morrhage displayed as low signal on susceptibility weighted imaging.(2) Among 23 cases of leukemic infiltration, the dura and/or skull were involved in 18 cases, which presented as fusiform or mass, with high density on CT, low signal on T1WI, intermediate signal on T2WI and strong enhancement; 6 leptomeningeal infiltration demonstrated as meningeal thickening and enhancement; 2 parenchymal involvement manifested with high-density mass; 2 oculomotor nerve and 1 optic nerve infiltration demonstrated thickening and enhancement.(3)White matter disease was seen in 2 cases, with hyper-intensity on T2WI.(4) One case of secondary tumor was glial tumor in the brainstem. Conclusions The radiographic manifestations of CNCSL in children are various.CT and MRI are of important diagnostic values.Choosing the best imaging examination method and sequence according to clinical symptoms and test results can provide more valuable information for clinical diagnosis and treatment.

Next generation sequencing (NGS) has developed very rapidly in the last decade. Compared with Sanger sequencing, NGS has the advantages of high sensitivity and high throughput. Movement disorders are a common type of neurological disease. Although traditional linkage analysis has become a standard method to identify the pathogenic genes in diseases, it is getting difficult to find new pathogenic genes in rare Mendelian disorders, such as movement disorders, due to a lack of appropriate families with high penetrance or enough affected individuals. Thus, NGS is an ideal approach to identify the causal alleles for inherited disorders. NGS is used to identify genes in several diseases and new mutant sites in Mendelian movement disorders. This article reviewed the recent progress in NGS and the use of NGS in Mendelian movement disorders from genome sequencing and transcriptome sequencing. A perspective on how NGS could be employed in rare Mendelian disorders is also provided.
Alleles ; Genetic Linkage ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Movement Disorders ; diagnosis ; genetics ; Sequence Analysis, DNA ; Transcriptome

BACKGROUND:In recent years, the application of stem cel s to treat autoimmune diseases has become a hot spot. But, studies on umbilical cord blood mesenchymal stem cel s transplantation for the treatment of polymyositis/dermatomyositis are rarely reported. OBJECTIVE:To explore the immunologic mechanism of Th cytokines on the occurrence and development of polymyositis/dermatomyositis by observing the changes in serum interferon-γ, interleukin-4 and interleukin-17 in patients after umbilical cord blood mesenchymal stem cel s transplantation. METHODS:Eighty-one polymyositis/dermatomyositis patients were selected and divided into conventional therapy group (n=44) undergoing glucocorticoid and immunosuppressants therapy and cel transplantation group (n=37) undergoing intravenous infusion of umbilical cord blood mesenchymal stem cel s at a density of (3.5-5.2 )×107 . Dosing regimen was same in the two groups. After fol ow-up of 1, 3, 6 months, the changes of creatine kinase and myodynamia were evaluated;after fol ow-up of 3 and 6 months, lung imaging was evaluated;in the cel transplantation group, interferon-γ, interleukin-4 and interleukin-17 levels were detected before treatment and at 3 and 6 months after treatment. RESULTS AND CONCLUSION:At 1, 3, 6 months after treatment, the creatine kinase level was significantly decreased, and the muscle force grade was significantly increased in both groups (both P<0.001). Compared with the conventional therapy group, the creatine kinase level was lower and the muscle force grade was higher in the cel transplantation group (both P<0.001). Results from lung imaging test showed a remarkable improvement after cel transplantation, and it indicated that umbilical cord blood mesenchymal stem cel s transplantation had good stability. At 6 months after transplantation, the level of interferon-γwas significantly increased, while the interleukin-4 level was decreased significantly (both P<0.01);at 3, 6 months after cel transplantation, the levels of interleukin-17 were significantly decreased (P<0.01). Levels of interleukin-4 and interleukin-17 were positively correlated with the level of creatine kinase at 6 months after cel transplantation (r=0.467, 0.488, both P<0.05), but there was no obvious correlation between the levels of interferon-γand creatine kinase (r=0.213, P>0.05). These findings indicate umbilical cord blood mesenchymal stem cel s transplantation combined with glucocorticoid and immunosuppressants therapy can adjust immune network effects and improve the immune tolerance in polymyositis/dermatomyositis patients, which is safe and effective.

Aim To evaluate the inhibitive and induc-tive effects of Polygonum capitatum water extract on main cytochrome P450 isoforms in human and liver mi-crosomes of mouse in vitro for predicting the herb-drug interactions in clinical application. Methods The in vitro inhibitory effect was evaluated by incubating Po-lygonum capitatum water extract with the probe sub-strates of main phase I metabolic enzymes in human liver microsomes, including CYP1A2, CYP2E1, CYP2C9,CYP2C19 and CYP3A4. Mice were adminis-tered with Polygonum capitatum water extract at dosage of 0 . 58 g · kg-1 and 1 . 16 g · kg-1 by gastric lavage for successive 7 days and 14 days, then the cocktail-LC-MS/MS method was applied to assess the inductive effect of main CYP450 isoforms in mouse liver micro-somes. Results The IC50 values of Polygonum capita-tum water extract on main CYP450 isoforms in human liver microsomes were from 849 . 6 mg · L-1 to 2 287 mg·L-1 . Compared with the blank control group, the activites of CYP2C9 and CYP3A4 in 1. 16 g·kg-1 7 d group were about 49 . 9 % and 21. 1 % higher ( P <0. 01, P < 0. 05 ) respectively, the activities of CYP2C9 and CYP3A4 in 0. 58 g·kg-1 7 d group were 27. 6 % and 15. 5 % higher ( P <0. 01 , P <0. 05 ) respectively, the activities of CYP2C9 and CYP3A4 in 1. 16 g·kg-1 14 d group were 67. 5 % and 32. 1 %higher (P<0. 01) respectively, while the activities of CYP1 A2 , CYP2 E1 and CYP2 C19 were not increased significantly in Polygonum capitatum treatment group. Conclusions Polygonum capitatum water extract do not show the inhibitory effect on main CYP450 in hu-man liver microsomes. There is induction on CYP2C9 and CYP3 A4 in mouse liver microsomes by Polygonum capitatum water extract.

Objective To explore the value of MRI on fetal autosomal recessive polycystic kidney disease (ARPKD).Methods Sixteen pregnant women,aged from 28 to 38 years (average 30 years) and with gestation age from 22 to 36 weeks (average 25 weeks) underwent MR scanning with a 1.5 T MR unit within 24 to 48 hours after ultrasound examinations.The imaging sequences included steady-state free-precession (SSFP) sequence,single-shot turbo spin echo (SSTSE) sequence and T1-weighted fast imaging sequence.Prenatal US and MR imaging findings were compared with autopsy or pathological results.Results A total of 16 cases of ARPKD showed bilateral markedly enlarged kidneys and diffuse high signal small cysts in renal medulla on SSTSE sequence.Among the 16 cases,11 cases were with oligohydramnios,1 1 cases were with pulmonary hypoplasia,and 6 cases were with hepatic fibrosis.Eleven cases of pulmonary hypoplasia and 6 cases of hepatic fibrosis were all missed by US.For the diagnosis of the renal anomalies,US missed one case.MRI diagnosis was correct in all these cases.Conclusions MRI shows great advantages on the diagnosis of fetal ARPKD,and it is not affected by the amount of amniotic fluid.It can be used to evaluate kidney and lung abnormalities accurately.

ObjectiveTo evaluate the clinical benefits of early right median nerve electrical stimulation on coma patients following craniocerebral trauma. MethodsCraniocerebral trauma patients with up to two weeks of coma in the years 2005-2011 were involved in the study and were randomly divided into control group (received routine management ) and treatment group (routine management plus right median nerve electrical stimulation).The treatment lasted for a period of more than two weeks.The clinical efficacy of the right median nerve electric stimulation and the conscious status of the patients within six months after craniocerebral trauma were observed.ResultsA total of 456 patients were enrolled in the study,of whom 437 patients completed the treatment course,including 221 patients in the treatment group and 216 in the control group.There was no complication related to electric stimulation during the treatment.Cerebral blood flow (CBF) imaging and brain stem evoked potential (BEP) examination demonstrated significant improvement in the treatment group.A total of 386 patients were followed up for six months postoperatively,which showed that there were 122 patients with regained consciousness,46 in minimally conscious state and 36 in vegetative state in the treatment group (204 patients) and there were 84 patients with regained consciousness,40 in minimally conscious state and 58 in vegetative state in the control group ( 182 patients).The patients in the treatment group showed a higher ratio of regained consciousness and a lower ratio of vegetative state compared with the control group,but the ratio of minimally conscious state showed no statistical difference between two groups. ConclusionsRight median nerve electrical stimulation is a suitable coma awaking means at early stage after craniocerebral trauma.