Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or considered. A comprehensive database is critical for patient recruitment and efficacy evaluation. China has the largest population, yet, no comprehensive database for DMD/BMD is available. Our study registered the data of the DMD/BMD patients in East China. A modified registry form of Remudy ( http://www.remudy.jp/ ) was applied to Chinese DMD/BMD patients through the outpatient clinic at Children’s Hospital of Fudan University, Shanghai during the period of August 2011 to December 2013. The data included geographic distribution of patients, age at diagnosis, clinical manifestation, genetic analysis and treatment status. 194 DMD and 35 BMD patients were registered. Most patients lived in East China, namely Jiangsu province, Anhui province, Zhejiang province, Jiangxi province, Shanghai, Fujian province and Shandong province. All individuals aged less than 18 years (age limit to a children’s hospital). Diagnosis was made for a majority of patients during the age of 3–4 (16.6%) and 7–8 (14.8%) years old. Exon deletion was the most frequent genetic mutations (65.5% and 74.3%) followed by point mutations (14.4% and 11.4%), duplications (9.8% and 8.6%) and small insertion/deletion (9.3% and 2.9%) for DMD and BMD, respectively. 82.5% of DMD registrants were ambulatory, and all the BMD registrants were able to walk. 26.3% of DMD registrants have been treated with steroids. Cardiac functions were examined for 46.4% DMD boys and 45.7% BMD boys and respiratory functions were examined for 18.6% DMD boys and 14.3% BMD boys. Four boys with abnormal cardiac function were prescribed for treatment with cardiac medicine. 33.2% of DMD patients are eligible for exon skipping therapy, and among them 9.2% and 4.3% patients are eligible for skipping exon 51 and 53, respectively. The database is the first linking accurate genetic diagnosis with clinical manifestation and treatment status of dystrophinopathy patients in East China. It provides comprehensive information essential for further patient management, especially for promotion of international cooperation in developing experimental therapies such as exon skipping and read-through of nonsense mutations targeting a subgroup of DMD patient population.

Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms.

Background: Cerebral venous sinus thrombosis (CVST) in children is rare in a clinical setting. The aim of this study was to summarize the etiological, clinical, and imaging characteristics of CVST in children. Methods: We retrospectively analyzed the data of 30 patients with a diagnosis of CVST who were admitted to Children's Hospital of Fudan University from 2008 to 2018. The medical records, including clinical manifestations, laboratory data, neurological findings, treatment, and short-term prognosis were analyzed. Results: Etiologically, the causes of CVST were infection (7/30), tumor (3/30), nephritis or nephrotic syndrome (8/30), traumatic brain injury (1/30), and undefined disease (11/30). All 30 cases were diagnosed with CVST after a neuroimaging examination using brain magnetic resonance imaging (MRI) combined with magnetic angiography venography (MRV). With regard to short-term prognosis, all the patients were treated with anticoagulants, after which 26 cases improved. Conclusions: CVST patients do not typically present with specific clinical manifestations, which leads to a high rate of misdiagnosis and delayed therapy. Increased consideration and prompt MRV checkup plays a key role in achieving an accurate diagnosis. Overall, anticoagulation is a safe and effective treatment for CVST.