Clinical features and genetic mutation analysis in a family of X-linked adrenoleukodystrophy / 中华内分泌代谢杂志

Objective:To analyze the clinical features of a kindred of X-linked adrenoleukodystrophy(X-ALD) with the onset of primary adrenocortical insufficiency, and to detect the mutation of ATP-binding cassette, sub-family D, member l(ABCD1) gene.Methods:A Chinese X-ALD kindred with two affected males from two-generations was studied. The clinical data of the proband′s family members were collected. The sequences of ABCD1 of the proband, his parent and young brother were detected by next-generation sequencing. X-ALD was diagnosed according to clinical manifestations, cranial MRI image, and serum level of very long chain fatty acid(VLCFA).Results:The two cases were all males. The proband was characteristic of primary adrenocortical insufficiency and neurological dysfunction, with extensive cerebral white matter demyelination and high serum VLCFA level. At the age of 2 years and 10 months, the younger brother of the proband presented with primary adrenocortical dysfunction, without neurological symptoms. Gene sequencing results of two patients showed a novel missense substitution(c.1666C>T) in exon 7 of ABCD1 inherited from their mother.Conclusion:The new mutation of ABCDl gene c. 1666C>T may lead to adrenoleukodystrophy. Primary adrenocortical insufficiency and neurological dysfunction are the typical manifestations of X-ALD.

The significance of lactate dehydrogenase in the diagnosis and treatment of children with refractory Mycoplasma pneumoniae pneumonia / 中国小儿急救医学

Objective To investigate the significance of lactate dehydrogenase(LDH) in the diagnosis and treatment of children with refractory Mycoplasma pneumoniae pneumonia(RMPP).Methods This was a study of children with Mycoplasma pneumoniae pneumonia(MPP) admitted to hospital from June 2013 to June 2016.All patients were treated with erythromycin.Based on the definition of RMPP,subjects were divided into usual MPP group and RMPP group.The children in RMPP group were treated with erythromycin combined with methylprednisolone.The indicators including LDH,WBC counts,C-reactive protein,erythrocyte sedimentation rate(ESR),alanine aminotransferase(ALT),aspartate amino ransferase(AST) and creatine kinase were analyzed between RMPP group and usual MPP group.The differences of the above indicators between the effective and ineffective group before and after methylprednisolone treatment were also compared.Results In total,253 subjects were enrolled,including 161 in the usual MPP group and 92 in the RMPP group.The average age in RMPP group was older than that in the usual MPP group.The indicators(including LDH,AST,ALT,and ESR) of RMPP group were higher than those in the usual MPP group.Logistic regression showed that LDH and ESR were the significant factors in predicting RMPP.The odds ratio(OR) of LDH was 1.029 with 95%CI 1.020-1.037,and the OR of ESR was 1.063 with 95%CI 1.009-1.120.Receiver operating characteristic curve analysis showed that the area under the curve of LDH(400.50U/L) was the largest(0.959,95%CI 0.936-0.983).The administration of methylprednisolone to patients in the RMPP group resulted in the rapid improvement of symptoms and decrease in serum LDH and ESR levels in effective group(P＜0.05).Conclusion Serum LDH may be used as a biomarker to predict RMPP at the early stage,also may be an important marker for the evaluation of therapeutic efficacy in RMPP.

Therapeutic effects of exercise-based treatment programme on children with attention-deficit/hyperactivity disorder / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the effects of an exercise-based treatment programme (dyslexia, dyspraxia and attention-deficit treatment, DDAT) on various subtypes of attention-deficit/hyperactivity disorder (ADHD).</p><p><b>METHOD</b>Ninety-one ADHD children with standing balance dysfunction (ADHD-I 43, ADHD-HI 15 and ADHD-C 33) were given DDAT for 6 months, the efficacy of DDAT was evaluated before DDAT, three, six months after the treatment and three month after end of the treatment according to SNAP-IV, before and after the treatment by balancing function test and Conners Parents Rating Scale.</p><p><b>RESULT</b>Inattention subscale scores of ADHD-I, ADHD-HI and ADHD-C before and after the interventions were 1.99 ± 0.34, 0.96 ± 0.31, 2.17 ± 0.31and 1.19 ± 0.45, 0.81 ± 0.28, 1.32 ± 0.37, differences of ADHD-I and ADHD-C were significant (P < 0.05), hyperactivity subscale scores of three subtypes of ADHD were 0.81 ± 0.35, 2.01 ± 0.35, 1.96 ± 0.33 vs.0.45 ± 0.33, 0.79 ± 0.41, 1.10 ± 0.35, there were significant differences as well (P < 0.05). The score of hyperactivity symptom was reduced more compared to that of inattention symptom by the SNAP-IV scale parent forms. There were significant difference before and after the treatment based on Conners parent scale for conduct problem (1.11 ± 0.48 vs. 0.76 ± 0.44) , learning problem (1.97 ± 0.58 vs.1.60 ± 0.67), psychosomatic problems (0.61 ± 0.49 vs. 0.29 ± 0.35) , activity/ hyperactivity (1.46 ± 0.69 vs.1.09 ± 0.55) and anxiousness (1.05 ± 0.63 vs.0.62 ± 0.47) as well (P < 0.05); the standing balance dysfunction improved for most of the children, total effective rate was 87.9%, no significant difference was found among the three subtypes (P > 0.05).</p><p><b>CONCLUSION</b>DDAT is a safe and efficient intervention for the ADHD children with standing balance dysfunction, the improvement on hyperactivity symptom was better than that on inattention symptom. This study shows that an exercise-based treatment programme for cerebellum function improves symptoms of ADHD and balance function.</p>

Diagnostic Value of Video-EEG in Children's Non-epileptic Seizures / 中国医师杂志

Objective To evaluate the value of Video-EEG for the diagnosis of children's non-epileptic seizures (NES). Methods A retrospective analysis was conducted in 105 cases of children with NES, which were diagnosed by 1 to 4 hours' video-EEG surveillance. Risk factors that interfered with the diagnosis were discussed. Results There were 91 cases (87%) of physiological NES and 14 cases (13%) of psychological NES among the total 105 NES. Misdiagnoses were made in 11 of 43 cases who received common EEG examination before. Conclusion Video-EEG was a reliable method to confirm the clinical diagnosis of non-epileptic seizures and differentiate it from epilepsy. EEG abnormality during seizure-free periods was the main risk factor for the misdiagnosis of NES.