Fatal neurological complications in children after H1N1 infection include ANE and opportunistic fungal infection. MRI is essential for identification of neurological complications and for clinical evaluation.
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first‐level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2‐related CMD (36.4%), followed by COL6‐related CMD (23.2%) and α‐dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.
Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRP mutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens had dystrophic changes and reduced glycosylated α-dystroglycan staining, and two showed reduced expression of laminin α2. Two known and 13 novel mutations were identified in our single center cohort. Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients. Moreover, patients homozygous for the c.545A>G mutation were clinically asymptomatic, a less severe phenotype than in compound heterozygous patients with the c.545A>G mutation. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.
Three-dimensional (3D) speckle-tracking echocardiography (STE) is a new imaging modality used for quantitative analysis of left ventricular (LV) function. The aim of this study is to assess the value of 3D STE in early detection of subclinical myocardial involvement in children with Duchenne muscular dystrophy (DMD). Fifty-six children with DMD (mean age, 8.8 ± 1.9 years) and 31 age-matched control subjects were studied. Patients were subdivided into two groups by age: ≤ 8 or > 8 years. Standard echocardiography examinations were performed to measure LV size and ejection fraction (EF). 3D STE was performed to assess LV 3D global strain and LV end-diastolic volume (EDV), end-systolic volume (ESV), and EF. Standard and 3D echocardiography measures were compared between children with DMD and those in the control group as well as between different patient groups. The areas under the receiver-operating characteristic (ROC) curve were calculated to determine the capability of 3D global strain indices to discriminate between patients and control subjects. No significant difference was detected in either LVEF derived from M-mode or 3D echocardiography between the two groups, and they were both within the normal range. Compared with control subjects, children with DMD had significantly reduced LV 3D global longitudinal strain (GLS; - 16.6 ± 4.7 vs. - 19.5 ± 3.7, p = 0.003), global circumferential strain (GCS; - 13.7 ± 2.9 vs. - 15.8 ± 2.6, p = 0.001), global radial strain (GRS; 42.5 ± 9.7 vs. 50.3 ± 10.4, p = 0.001), and global area strain (GAS; - 25.3 ± 4.9 vs. - 30.7 ± 4.1, p = 0.000). The older DMD children (age > 8 years) had lower GLS (- 15.1 ± 4.43 vs. - 18.6 ± 4.35, p < 0.05), GCS (- 12.8 ± 3.48 vs. - 14.8 ± 2.83, p < 0.001), GAS (- 23.8 ± 4.7 vs. - 29.0 ± 5.4, p < 0.001), and GRS (40.7 ± 8.8 vs. 47.3 ± 11.5, p < 0.05) than younger patients (age ≤ 8 years). The AUC of GAS was 0.80, and the cutoff value of - 29.5 had a sensitivity of 85.7% and a specificity of 71.0% for differentiating DMD patients from control. 3D speckle-tracking echocardiography is useful for detecting subclinical myocardial dysfunction and stratifying cardiomyopathy in children with DMD.
Dystroglycanopathy is a group of muscular dystrophies with deficient glycosylation of alpha‐dystroglycan (α‐DG). We recruited patients from 36 tertiary academic hospitals in China. In total, 143 patients with genetically diagnosed dystroglycanopathy were enrolled. Of these, limb girdle muscular dystrophy was the most common initial diagnosis (83 patients) and Walker‐Warburg syndrome was the least common (1 patient). In 143 patients, mutations in FKRP gene were the most prevalent (62 patients), followed by POMT2, POMT1 (16), POMGNT1, ISPD (14), FKTN, GMPPB, B3GALNT2, DPM3, and DAG1. Several frequent mutations were identified in FKRP, POMT1, POMGNT1, ISPD, and FKTN genes. Many of these were founder mutations. Patients with FKRP mutations tended to have milder phenotypes, while those with mutations in POMGNT1 genes had more severe phenotypes. Mental retardation was a clinical feature associated with mutations of POMT1 gene. Detailed clinical data of 83 patients followed up in Peking University First Hospital were further analyzed. Our clinical and genetic analysis of a large cohort of Chinese patients with dystroglycanopathy expanded the genotype variation and clinical spectrum of congenital muscular dystrophies.
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