A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.

Background: The monoamine neurotransmitter disorders are neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines (the catecholamines dopamine, norepinephrine and epinephrine; serotonin), which are increasingly recognized as an expanding group of inherited neurometabolic syndromes.Case Description: A 6-month-old male infant who presented with developmental delay and suspected cerebral palsy was diagnosed with infantile parkinsonism-dystonia-2 (MIM: 618049). The whole-exome sequencing identified a homozygous c.710C > T (p.Pro237His) transition in the monoamine transporter gene SLC18A2, which was due to paternal uniparental disomy (UPD) of chromosome 10p15.3q26.3, resulting in brain dopamine-serotonin vesicular transport disease. Sanger sequencing confirmed that his unaffected father carried the same mutation in the heterozygous state, while his mother did not carry the same mutation. Autosomal recessive gene mutations in SLC18A2 has been identified in three families in different countries. The infant was treated with pramipexole, a dopamine agonist, and the static tremor was better compared with that before treatment, but the movement disorder was not significantly improved.Conclusion: This case confirmed the causal mutation of SLC18A2 gene and brain dopamine-serotonin vesicular transport disease, which suggested the mechanism of UPD homozygous formation, and confirmed that dopamine agonist treatment could improve some symptoms in affected individuals.

Bilobalide assuages morphine-induced addiction in hippocampal neuron cells through upregulation of microRNA-101.

Bilobalide exhibits many biological activities, but its effects on morphine stimulation have not been elucidated. The research aims to explore the function and underlying mechanisms of bilobalide in morphine-led hippocampal neuron cells. Cells were treated with or without morphine or oxaliplatin (OXA), bilobalide, or SCH772984 dilutions. miR-101 inhibitor and negative control were transfected into cells. Western blot and quantitative reverse transcription-polymerase chain reaction were, respectively, conducted to measure the relative expression of proteins or RNAs. Morphine improved the expression levels of orexin1 receptor (OX1R) and c-FOS, the p/t-ERK/PKC as well. The c-FOS protein level and p/t-ERK/PKC were significantly elevated by morphine + OXA. Bilobalide had no effect on OX1R and p/t-PKC but evidently decreased the c-FOS and p/t-ERK. The p-ERK and the c-FOS accumulation levels were remarkably reduced by SCH772984. The production of miR-101 was promoted by bilobalide but inhibited by the miR-101 inhibitor. miR-101 inhibitor abolished bilobalide's inhibitory effects on p/t-ERK. Bilobalide exhibited morphine-induced effects on hippocampal neuron cells by upregulating miR-101.

GM1 Acupoint Injection Improves Mental Retardation in Children with Cerebral Palsy.

To study the clinical effectiveness and mechanism of GM1 acupoint injection therapy on mental retardation for children with cerebral palsy (CP). A total of 90 children with CP were divided into acupoint injection group (group A), subcutaneous injection group (group B), and control group (group C). Another 30 healthy children were set as a healthy control group (group D). The Mental Developmental Index (MDI), Psychomotor Developmental Index (PDI), and hemodynamic parameters in the cerebral arteries were measured before and after treatment. After three treatment courses, the MDI and PDI in groups A, B, and C were increased, and the increase in group A was most obvious (P < 0.05). Peak systolic velocity, mean velocity, and end-diastolic velocity were also elevated in group A, and after three treatment courses, resistance index decreased with a statistical significance (P < 0.05). However, there were no significant changes in groups B and C (P > 0.05). For all groups, neuron-specific enolase levels decreased and total superoxide dismutase increased after treatment. Acupoint injection therapy combined with conventional rehabilitation therapy demonstrated significant effects on cerebral hemodynamic conditions for children with CP.

[Clinical analysis of 322 cases of non-epileptic cerebral palsy].

OBJECTIVE: To study the clinical features of non-epileptic seizures associated with cerebral palsy (CP) in children. METHODS: A total of 1 198 children with CP (age: 9 months to 6 years) were enrolled. The children with paroxysmal events were monitored by 24 hrs video-EEG (VEEG) to make sure the seizures were epileptic or non-epileptic. The symptoms, age, CP types and EEG features were observed in children with non-epileptic CP. RESULTS: Five hundred and seventy-eight children (48.24%) presented paroxysmal events. The seizures were epileptic in 231 children (19.28%) and non-epileptic in 322 cases (26.88%). In the 322 cases of non-epileptic CP, the paroxysmal events were of various kinds, including non-epileptic seizure tonic, seizure shake head, shrug shoulder or head hypsokinesis, cry or scream, panic attacks, sleep myoclonic and stereotyped movement. One hundred and fifty-eight (49.1%) out of the 322 children demonstrated nonspecific EEG abnormalities. One hundred and eleven children (34.5%) were misdiagnosed as epilepsy in primary hospitals. The CP children less than one year old showed higher frequency of non-epileptic seizures than the age groups over 1 year and 3 to 6 years. The frequency of non-epileptic seizures was the highest in children with spastic CP (168 cases, 52.2%), followed by dyskinetic CP (69 cases, 21.4%) and mixed type CP (65 cases, 20.2%). CONCLUSIONS: The paroxysmal events in children with CP partially are non-epileptic seizures and it is important to differentiate non-epileptic from epileptic seizures. The frequencies of non-epileptic seizures may be associated with a child's age and CP type.

[Therapeutic effect of early applying hydrotherapy with Chinese drugs on children hypoxic ischemic encephalopathy].

OBJECTIVE: To observe the therapeutic effect of hydrotherapy with Chinese drugs (HT-C) in early intervention on children hypoxic ischemic encephalopathy (HIE). METHODS: HIE children were assigned to the treatment group and the control group, 50 in each, at random depending on the willingness of patients' parents. Both groups received the conventional functional training, according to the "0 -3-year-old early intervention outline", but for the treatment group, HT-C was applied additionally. Indexes for quality of sleep, gross motor function, severity of spasm and intellectual development were observed and compared before and after treatment to assess the therapeutic effects. RESULTS: Therapeutic effect in the treatment group was better than that in the control group in all the indexes observed, showing statistical significance (all P <0.05). CONCLUSION: Early intervention of HT-C could improve clinical symptom, promote the functional recovery and intellectual development in children HIE, and also could reduce or prevent the sequelae occurrence of the nervous system in them.