Health Personnel ; psychology ; Humans ; Love ; Rare Diseases ; therapy

Inherited metabolic disorder is a major class of clinical diseases with complexity and dififculty of being di-agnosed. Current clinical diagnosis has to rely on the metabolite analysis, gene analysis and enzyme activity (protein function) analysis of these three techniques. We analyse the features of the three diagnostic methods and clinical application of analysis, comparison and induction, to provide some experience and reference that help clinicians to better use of these three techniques. These three ways should be organically combined to form a diagnostic platform for inherited metabolic disorders.

It is the trend worthing a close attention in the 21st century to consider the quality of life while focusing on control of epileptic seizures simultaneously during the treatment of epilepsy and related services. The impact of the epilepsy on many aspects of quality of life are caused by many factors, including the type of epilepsy, site of the epileptic loci, onset age, frequency of attack, duration and course of disease, and especially side effects of anti-epileptic drugs. In the treatment of epilepsy, choice of drugs should be made based on benefits and adverse effects, it is necessary to achieve better therapeutic effects, but also to reduce the impact of drugs on the level of intelligence in children and to promote the single-drug treatment. The purpose of the treatment of epilepsy is no longer aimed at seizure free as the end point, consideration must be given to beth the control of seizure and the improvement of the quality of life.

Headache is a common complaint in children and adolescents.While the majority of headaches are self-limited and benign,headaches occasionally herald a life-threatening illness such as meningitis,intracranial hemorrhage,brain tumor or hydrocephalus.The primary objective of the emergency department pediatrician is to diagnose and manage any acute life-threatening cause of headache.For the non-emergency headache,the goal is to relieve the pain and the associated symptoms.

Objective To demonstrate the effect of bilateral adrenalectomy (ADX) on the susceptibility to NMDA-induced seizure and hippocampal CRH mRNA in young rats. Methods 60 Wistar rats at P10 were divided into control group, ADX group and Sham-ADX group. In the next day after operation, 7 mg/kg NMDA was injected to induce seizure, and incubation period (in minutes) as well as degree was evaluated. In situ hybridization was used to detect hippocampal CRH mRNA expression. Results Latency was (43.65 ± 2.96) minutes in control group, (35.05 ± 2.35)minutes in ADX group and (42.60 ± 1.90)minutes in Sham-ADX group. Latency in the ADX rats increased significantly (F = 73.73, P < 0.05). The seizure scale was (4.40 ± 0.60) in control group, (5.56 ± 0.76) in ADX group and (4.55 ± 0.76) in Sham-ADX group. The severity of seizures in ADX group increased significantly compared with the control and Sham-ADX groups (F = 15.52, P <0.05). CRH mRNA expression was 20% in control group, 55% in ADX group and 15% in Sham-ADX group. CRH mRNA in the ADX group was significantly elevated (χ2 = 9.048, P < 0.05). Conclusion Adrenalectomy exacerbates NMDA-induced spasm seizures in young rats , which might be related to CRH mRNA expression in the hippocampus.

Objective To explore the clinical and molecular-genetic features and prognosis of mitochondrial encephalopathy in children. Methods A total of 11 patients diagnosed with mitochondrial encephalopathy were collected from 2008 to 2013 in Chinese PLA General Hospital, Department of Pediatrics. The clinical manifestations, laboratory tests, muscle pathology and mitochondrial gene sequencing in patients were analyzed and followed-up. Results The onset age of the patients ranged from 6 months to 12 years with the duration of disease from 2 months to 3 years. Of the 11 patients, 6 cases were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 5 cases with mitochondrial disorder induced by mitochondrial respiratory chain enzyme deifciency. Main manifestations included convulsions, vomiting, headache, mental retardation, paralysis, etc. 10 patients had elevated lactate, and 7 patients had elevated pyruvate;6 cases showed increased slow wave in EEG background;Cranial MRI showed the damage involved in bilateral basal ganglia in 2 cases, temporal and occipital lobes in 3 cases, , multiple lesions in 2 cases, frontal and parietal occipital lobes in one patient and hypothalamus in one patient;3 patients were underwent MRA examination, 2 cases were normal, the other showed less shunts in contralateral left artery in the brain;3 cases who underwent MRS showed lactate peak. 2 cases of children underwent skeletal muscle biopsy, and one case showed abnormal mitochondria accumulation. Mitochondrial respiratory chain complex (I~V) defects test showed complex IV defects in 2 cases, complex V defects in 1 case, and combined defects of complex I+III in 2 case. 5 cases were found with mitochondrial DNA mutations in different sites of white blood cells including T8993G, T8993C, A3243G and 11,777 mutations. Conclusions Clinical manifestation of mitochondrial encephalopathy in children is strongly heterogeneous. Laboratory tests, brain imaging, gene mutation and respiratory chain enzyme examination can help to make early diagnosis and treatment. These diseases have poor prognosis.

Routine vaccination is a most important way to prevent and control various kinds of infection disease,however,concerns about epileptic diseases after vaccination worries patients and health care providers.Many studies have shown that the risk of febrile seizure(FS)increases after measles-mumps-rubella(MMR)and iphtheria-tetanus-pertussis(DTP)vaccine,but this increase is associated with the fever after vaccine.The prognosis of vaccine related FS is similar to non-vaccine FS.Moreover,no evidence has shown that vaccine is related with non-febrile seizure and epileptic encephalopathy.

The mammalian target of rapamycin (mTOR) disorders have a close relationship with autoimmune disease,tuberous sclerosis (TfSC),cancer,obesity and senescence.mTOR inhibitors are wildly used in pediatric renal transplantation and TSC.Growth is an important indicator of children health and safety evaluation of pediatric drugs must include impact on growth.No evidence showed mTOR inhibitors had side effect on growth in children.

Objective To summarize the clinical,radiographic and genetic features of a family with metatropic dysplasia,in order to improve the level of understanding and diagnosis of this disease.Methods The proband,a one-year old boy,was diagnosed as metatropic dysplasia.His mother was 26 years old with mildly phenotype.Their clinical features and bone X-ray findings were analyzed.The DNA samples of the proband and his parents were collected.The coding exons and flanking introns regions of transient receptor potential vanilloid 4 (TRPV4) gene were amplified by polymerase chain reaction (PCR) and analyzed by DNA automatic detector.The pathology,diagnosis,treatment and prognosis were expounded.Results The symptoms of the boy were characterized by short extremities,a short trunk with progressive kyphoscoliosis,and craniofacial abnormalities that include a prominent forehead,midface hypoplasia,and a squared-off jaw.His motor development was slightly delayed.Mental development was normal.Bone X ray of the boy showed platyspondyly and severe metaphyseal enlargement with shortening of long bones and irregularities and delayed ossification of epiphysis.The patient and his mother were heterozygous for the nucleotide substitutions c.2396 ＞ T (p.P799L) in TRPV4 gene.Conclusions The patient and his mother with metatropic dysplasia were diagnosed with TRPV4 gene analysis.The patient showed typical clinical features.His mother was mild.Metatropic dysplasia had significantly clinical heterogeneity.Gene analysis is helpful for the diagnosis.

Objective Diammonii glycyrrhizinatis was shown to exert a protective effect on myocardium against ischemia-reperfusion injury. The purpose of this study was to evaluate the effects of diammonii glycyrrhizinatis on acute lung injury induced by cardiopulmonary bypass(CPB), Methods Twenty-four ASA Ⅱ - Ⅲ patients (9 male, 15 female) aged 20-60 yr, weighing 45-75 kg scheduled for elective value replacement were divided into two groups at random: control group (group C, n = 12) and diammonii glycyrrhizinatis group (group G, n = 12) . Patients with infections diseases or immunodiflciency and those who were taking corticosteroid and drugs which may affect immune function were excluded. Anesthesia was induced and maintained with midazolam, fentanyl and vecuronium. In group G diammonii 2.5 mg?kg-1 10% glucose 50 ml was infused during the interval between intubation and skin incision. Blood samples were taken from arterial line at 10 min after induction (T0), 30 min after start of CPB (T1 ), 30 min after aortic unclamping (T2), at the end of surgery (T3), 4 h and 24 h after operation (T5, 6) for determination of plasma TNT-? IL-?, IL-10, MDA levels and Mn-SOD activity. Respiratory index (RI) PA-aDO2/PaO2 ] was calculated at 10 min after induction of anesthesia (T0), 10 min and 30 min after CPB (T1, 2) and at the end of surgery. Results There was no significant difference in age body weight, CPB time and aortic cross clamping time between the two groups. The TNF-?, IL-?, IL-10, MDA levels and Mn-SOD activity were not significanttly different at T0 between the two groups, and increased significanttly after start of CPB in both groups ( P