ABSTRACT
The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.
ABSTRACT
Objective:To summarize the genotypes and phenotypes of children with ALG13 gene related congenital disorders of glycosylation type Ⅰ. Methods:Four epilepsy patients with ALG13 variants visiting the Department of Pediatrics, Peking University First Hospital from January 2016 to July 2019 were included.Their clinical data and gene results were analyzed. Results:There were 1 boy and 3 girls.Three patients had p. N107S variant, and 1 case had p. W112X variant.Two patients inherited the variants from their asymptomatic mother and 2 patients had de novo variants.The seizure began at 3 months to 2 years old.Focal seizure was observed in 1 patient, and epileptic spasms in 2 patients.Focal seizure, tonic seizure and epileptic spasms were observed in 1 patient simultaneously.Three patients were diagnosed with infantile spasms.All patients with ALG13 variants had developmental delay, including autistic-like features in 3 cases, hypotonia in 2 cases, and visual disorders in 1 case.The electroencephalography showed hypsarrhythmia in 3 children, and focal spikes and waves in 1 child, and spasms in 2 children.The brain magnetic resonance imaging showed cerebral atrophy in 1 patient, while the other 3 cases were normal.The last follow-up age was 2 years and 2 months to 4 years and 4 months.Four patients still had frequent seizures after treatment with antiepileptic drugs. Conclusions:ALG13 variants were mainly de novo, and p. N107S is a hot variant.ALG13 gene variations mainly occur to infants, characterized by developmental delay and spasms.Infantile spasm is the most common phenotype.Some patients have autistic-like features, hypotonia, visual disorders and cerebral atrophy.
ABSTRACT
Objective To investigate the effect of cardiotrophin-1 (CT-1) mediated by recombinant adenovirus (Adv) on the neural differentiation of bone marrow mesenchymal stem cells (rBMSCs) of rats.Methods The rBMSCs were isolated and cultured by attachment method.The surface marker protein was identified by flow cytometry.The rBMSCs were divided into 4 groups:control group,AdV enhanced green fluorescence protein (Adv-EGFP) + induction group(empty virus group),CT-1 group and induction group.The cells were transfected by Adv in the corresponding multiplicity of infections.Each group was induced by neural induction medium except for control group.The cells morphological changes were observed by microscope and the expressions of Nestin,neuronal nuclei (NeuN) and glial fibrillary acidic protein(GFAP) were detected respectively by cellular immunofluorescence at 5 h,3 d and 7 d after induction.Results After induction treatment,neuron-like cells morphological changes were observed in all the groups except for control group,among which the most obvious change was found in CT-1 group.The positive rate of Nestin was the highest at 5 h after induction.Positive rate of CT-1 group[(86.31 ± 4.27)％] was higher than any other groups,the differences were statistically significant (all P ＜ 0.001);after which its positive rate gradually declined,the positive rate of CT-1 group changed more obviously than other groups,and the differences were statistically significant (all P ＜ 0.001).The difference in Nestin positive rate between the empty virus group and induction group was not statistically significant (all P ＞ 0.05) at various time points.The NeuN and GFAP could be observed in CT-1 group at 5 h after induction.Then the positive rate of NeuN and GFAP increased gradually,and climbed to the highest point [(64.41 ± 3.65)％,(47.14 ± 4.29)％] on 7 d after induction.Positive rate of NeuN and GFAP in CT-1 group at various time points were higher than that of other groups,and the differences were statistically significant (all P ＜0.001).The difference of NeuN and GFAP positive rate between the empty virus group and induction group was not statistically significant (all P ＞ 0.05).Conclusion CT-1 could promote the neural differentiation of rBMSCs.