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Objective:To summarize the clinical characteristics and therapeutic efficacy of central nervous system (CNS) aspergillosis.Methods:The clinical manifestations, laboratory examination, neuroimaging features, treatment and prognosis of 37 cases of CNS aspergillosis diagnosed and treated in the First Medical Center of People′s Liberation Army General Hospital from January 2000 to January 2021 were retrospectively analyzed. According to the correlation between intracranial lesions and paranasal sinus lesions, they were divided into two groups: rhino-cerebral aspergillosis (RA, n=21) group and cerebral aspergillosis (CA, n=16) group. Results:Only 16.2% (6/37) of CNS aspergillosis patients had a clear background of immunosuppression, but 35.1% (13/37) were complicated with diabetes. The most common clinical manifestations were headache (73.0%, 27/37), cranial nerve involvement (59.5%, 22/37) and fever (37.8%, 14/37). Cerebrospinal fluid characteristics included increased pressure (53.8%, 14/26), increased white blood cell count (46.7%, 14/30), decreased glucose (30.0%, 9/30), increased protein (70.0%, 21/30), and high positive results of the metagenomic next-generation sequencing (mNGS) of pathogenic microorganism (7/10). Cranial magnetic resonance imaging showed that commonly involved sites were sinus, orbital apex, posterior orbit, cavernous sinus (43.2%, 16/37) and cerebral lobes (27.0%, 10/37). Treatment options included antifungal drugs alone (64.9%, 24/37), combination of drugs and surgery (27.0%, 10/37) and surgery alone (8.1%, 3/37). Compared with the CA group, RA group had fewer males [47.6% (10/21) vs 14/16, χ2=6.34, P=0.012] and older age [(54.2±19.4) years vs (38.4±18.4) years, t=2.50, P=0.017], and was more prone to headache [85.7% (18/21) vs 9/16, χ2=4.00, P=0.046) and cranial nerve involvement [81.0% (17/21) vs 5/16, χ 2=9.31, P=0.006]. The misdiagnosis rate of these patients in the early stage was 73.0% (27/37). A total of 29 patients (85.3%, 29/34) were treated with voriconazole successively, and the course of treatment was 3.0 (0.5, 10.4) months. Compared with salvage therapy, the mortality of primary therapy was lower (4/17 vs 9/12, χ2=7.54, P=0.006). All patients were followed up to December 2021, and 17 patients died, with a mortality rate of 45.9% (17/37). Conclusions:CNS aspergillosis may have no definite immunosuppressive background. Some of CNS aspergillosis patients are complicated with diabetes, and the clinical manifestations of the disease lack specificity, with high misdiagnosis rate in the early stage, no inflammatory changes in cerebrospinal fluid, and high positive rate of mNGS for pathogenic microorganism. Early and long-term application of voriconazole can significantly reduce the mortality rate.
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A 14-year girl was admitted with akinesia and difficulty walking due to gait instability after two oral doses of compound diphenoxylate (lomotil). When she was 18-month old, drowsiness and inability to walk were observed after taking lomotil, the symptoms were relieved by taking B vitamins for treatment. The laboratory tests showed the increased blood branched chain amino acid levels; gene detection indicated that the child had compound heterozygous variations of c.745G>A(p.G249S) and c.485-1G>C in the BCKDHA gene. The girl was finally diagnosed as maple syrup urine disease. The domestic and foreign literature was searched, and 11 child cases of maple syrup urine disease with onset of unsteadiness and ataxia were reported, none of whom was associated with oral administration of compound diphenoxylate.
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Purpose@#The role of vacuolar protein sorting 34 (Vps34), an indispensable protein required for cell vesicular trafficking, in the biological behavior of hepatocellular carcinoma (HCC) has yet to be studied. @*Materials and Methods@#In the present study, the expression of Vps34 in HCC and the effect of Vps34 on HCC cell invasion was detected both in vivo and in vitro. Furthermore, by modulating the RILP and Rab11, which regulate juxtanuclear lysosome aggregation and recycling endosome respectively, the underlying mechanism was investigated. @*Results@#Vps34 was significantly decreased in HCC and negatively correlated with the HCC invasiveness both in vivo and in vitro. Moreover, Vps34 could promote lysosomal juxtanuclear accumulation, reduce the invasive ability of HCC cells via the Rab7-RILP pathway. In addition, the deficiency of Vps34 in HCC cells affected the endosome-lysosome system, resulting in enhanced Rab11 mediated endocytic recycling of cell surface receptor and increased invasion of HCC cells. @*Conclusion@#Our study reveals that Vps34 acts as an invasion suppressor in HCC cells, and more importantly, the endosome-lysosome trafficking regulated by Vps34 has the potential to become a target pathway in HCC treatment.
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Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.
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Objective:To summarize the phenotype and genotype of X-linked adrenoleukodystrophy (X-ALD) patients, and compare the phenotype and genotype characteristics between children and adult patients.Methods:The comprehensive clinical data of 30 patients with X-ALD admitted to Beijing Jingdu Children′s Hospital and the First Medical Center of People′s Liberation Army General Hospital from August 2012 to December 2019 were analyzed, including their clinical manifestations and the results of gene test, biochemical test and magnetic resonance imaging examination, etc.Results:Among the 30 patients, 15 (50.0%) were childhood cerebraI ALD (CCALD, onset age 5－10 yeas, mean 7 years), 13 (43.3%) were adrenomyeloneuropathy (AMN, onset age 21－41 yeas, mean 29 years). One (3.3%) was adult cerebral ALD (onset age 29 yeas), one (3.3%) was pure Addison disease (onset age 3.5 yeas). Most common clinical phenotype in children was CCALD and the first symptoms were inattention, learning ability decline, vision and hearing impairment. Otherwise the most common type in adult was AMN and the first symptoms were mainly progressive weakness of the lower limbs, muscle spasm, and abnormal gait. These patients came from 29 different families, among whom, 25 patients conducted gene test and 22 different types of ABCD1 gene mutations were found. Missense mutation was the main gene mutation type. Patients with different clinical types had no specificity in gene mutation types.Conclusions:In China, the most common clinical classification of X-ALD in children is CCALD, and AMN in adults. No clear correlation has been found between genotype and phenotype.
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@#Objective To study the clinical characteristics of overseas imported and related local COVID-19 patients in Chengdu. Methods Fifty overseas imported patients who were Chinese and 14 related local patients with COVID-19 who were admitted to Public Health Clinical Center of Chengdu from November to December 2020 were selected. The epidemiological characteristics, clinical manifestations, auxiliary examination, treatment and prognosis were summarized and analyzed. Results The local group were older, and they were mostly elderly and females (P≤0.05). Compared with the imported group, the proportion of the local group was higher in heart disease and tumor. More patients had cough, fever and expectoration symptoms (P≤0.05). C-reactive protein, fasting blood glucose and fibrinogen were higher, and the lymphocyte count, blood platelet count, CD3+ T lymphocyte count, CD4+ T lymphocyte count, CD8+ T lymphocyte count were lower. The positive rate of novel coronavirus total antibody, IgG antibody and IgM antibody in the imported group were higher than those in the local group (P≤0.05). The negative conversion time of the median nucleic acid was shorter than that of local patients (P≤0.05). Conclusion There are differences in sex ratio, age, complications, clinical manifestations, lymphocyte measurement value, T lymphocyte count and negative conversion time of nucleic acid between overseas imported and local COVID-19 patients in Chengdu. The local patients are mostly elderly and have more complicated conditions, but all of them have good prognosis.
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Objective@#To investigate the efficacy and safety of rapamycin in children with tuberous sclerosis complex (TSC) associated renal disease.@*Methods@#A prospective self-control study was conducted. The clinical data of 92 children diagnosed with tuberous sclerosis complex associated kidney disease at the People′s Liberation Army General Hospital from January 2011 to January 2019 were collected. The long-term rapamycin treatment for all patients initiated at 1 mg/(m2·d), which was gradually adjusted to reach a blood concentration of 5-10 μg/L. The changes of the maximum diameter of renal lesions in children after rapamycin treatment were observed and analyzed with Wilcoxon test.@*Results@#Ninety-two children, including 52 males and 40 females, who met the criteria were analyzed. Sixty patients had only renal angiomyolipoma(RAML), while 24 patients had only multiple renal cysts(MRC), and 8 patients had both lesions. The age of TSC diagnosis was 16.0 (7.0, 42.0) months, and the age of initial treatment with rapamycin was 63.5 (21.0, 103.0) months. The follow-up lasted for 12.0 (4.0, 23.0) months. Sequencing of TSC1 and TSC2 genes was performed in 54 children with TSC, including 3 patients (6%) with mutations in TSC1 gene and 51 patients (94%) with mutations in TSC2 gene. The maximum RAML diameter before treatment was 7.0 (4.0, 9.0) mm. The best effect reached at 3 months of treatment, with the diameter of 4.0 (0,7.0) mm. The maximum diameters at 6 months, 1 year and 1-2 years were 5.0 (0,9.8) mm, 5.0 (1.5, 8.5) mm, 5.5 (3.0, 9.0) mm, respectively, and were significantly different from the baseline (Z=-2.404,-2.350,-2.750,P=0.016,0.019,0.006, respectively). The maximum diameter after 2-3 years, and ≥3 years were 5.0 (3.9,7.0) mm and 6.0 (1.0, 11.0) mm, without significant difference from the baseline (Z=-0.856,-0.102,P=0.393,0.919, respectively).The maximum diameters of MRC after 3 months, 6 months, 1 year,1-2 years, 2-3 years, and ≥3 years were 11.0 (5.0, 14.0) mm,3.0 (0.0,11.0) mm,5.0 (0,21.0) mm,0 (0,14.0) mm,0 (0,10.0) mm, and 0 (0,18.3) mm, respectively, but were not significantly different rom the baseline (7.0 (5.0, 15.7) mm)(Z=-0.944,-1.214,-1.035,-1.896,-1.603,-1.214,P=0.345,0.225,0.301,0.058,0.109,0.225, respectively).Twenty-nine patients (32%) had oral ulcers during the entire treatment period, and no serious adverse reactions were observed.@*Conclusions@#Rapamycin could decrease the diameter of TSC-related RAML, but could not inhibit the growth of cysts. It is well tolerated in the treatment of renal diseases associated with tuberous sclerosis complex.
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Stroke is among the top 10 causes of death and a leading cause of childhood disability. Pediatric arterial ischemic stroke (AIS) differs from adult AIS in several ways. There are many risk factors among which non-atherosclerotic arterial disease and heart disease are the most frequently identified risk factors of AIS in children. Clinical manifestations do vary with age. The clinical manifestations are extremely atypical in neonates and infants. The treatment and prognosis are obviously different from that of adults. This review will discuss important developments in childhood arterial ischemic stroke, focus on improved understanding of the risk factors,clinical manifestations,consequences and targets for intervention.
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Objective@#To investigate the expression and significance of ubiquitin-specific proteases 2-69(USP2-69) in invasive ductal carcinoma of breast.@*Methods@#Twenty-four cases of human breast tissue with invasive ductal carcinoma diagnosed at Huanshan Hospital, Fudan University from 2013 to 2015 were collected, and the expression of USP2-69 mRNA and protein was detected by molecular hybridization, Western blot and immunohistochemistry. USP2-69 was over-expressed in cultured human breast cancer cell line MCF-7 by USP2-69 plasmid transfection. The cellular proliferative activity was investigated in vitro.@*Results@#The USP2-69 mRNA and protein were highly expressed in breast invasive ductal carcinoma, compared to adjacent normal tissues (P<0.01). Ki-67 protein expression was also increased in cases with high USP2-69 protein level. Western blot showed significantly higher USP2-69 protein level in cancer tissue compared to the adjacent normal tissue. In the cultured tumor cells, there was increased S phase fraction, cellular proliferation rate, flat positive clones, cyclin D1 expression and decreased p27 expression in USP2-69-transfected MCF-7 cells.@*Conclusions@#USP2-69 is over-expressed in breast invasive ductal carcinoma, and is closely related to proliferation promoting effects. The data provide an important experimental basis for further study on the molecular mechanism of breast cancer cell proliferation.
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Objective To investigate the clinical efficacy and therapeutic progress of orthotopic liver transplantation for the treatment of hepatic epithelioid hemangioendotheliom(a EHE). Methods Clinical data of 2 patients diagnosed with hepatic EHE were retrospectively analyzed. One patien(t case 1) was diagnosed with multiple hepatic EHE complicated with multiple infarction lesions of the spleen, and underwent orthotopic liver transplantation combined with splenectomy. The other cas(e case 2) was diagnosed with multiple hepatic EHE and received orthotopci liver transplantation alone. Literature review was performed. Pathological characteristics, clinical efficacy of liver transplantation and clinical prognosis of hepatic EHE patients were analyzed. Results Two patients successfully underwent surgery and were discharged postoperatively. The diagnosis of hepatic EHE was confirmed by pathological examinaiton and case 1 was complicated with EHE of the spleen . For case 1, tacrolimus was replaced by sirolimus at postoperavtie 1 month. At postoperative 4 months, capecitabine was orall y administered( chemotherapy) for EHE recurrence. At 6 months after surgery, the patient wa sdiagnosed with recurrent hepatic EHE complicated with multiple bone metastases, and waso rally administered with sorafenib. At postoperative 7 months, the patient died from cachexia and liver failure. Case 2 was followed up until the submission date( 8 months after surgery). No postoperative complications and tumor recurrence were observed. Previous studies had demonstrated that surgical resection was the primary therapy of hepatic EHE. Liver transplantation was highly recommended for patients with multiple unresectable hepatic EHE and extra-hepatic lesions. Moreover, chemotherapy, percutaneous puncture combined with transcatheter arterial chemoembolization and anti-angiogenesis treatment exerted certain clinical efficacy.C onclusions Surgical resection remains the primary therapy of hepatic EHE. For patients with multiple intrahepatic EHE, liver transplantation is considered as the optimal treatment. Much attention should be diverted to the prevention and treatment o f recurrent hepatic EHE following liver transplantation, aiming to improve the clinical efficacy.
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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.
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Objective@#To investigate the status of immunization of National Immunization Program (NIP) and its adverse reaction rate in children with tuberous sclerosis.@*Method@#Questionnaire survey was adopted to identify the vaccination coverage and its adverse events; 72 cases of children with tuberous sclerosis and 78 normal controls (healthy children completing age-appropriate NIP) admitted to Chinese People′s Liberation Army General Hospital from December 2014 to November 2015 were involved into this study.@*Result@#The age-appropriate NIP coverage rate of tuberous sclerosis was 36%(26/72). The coverage rate of bacillus calmette-guerin (BCG), hepatitis B vaccine 1st to 3rd doses (HepB1-3), oral poliovaccine 1st dose (OPV1), diphtheria, pertussis and tetanus 1st dose (DPT1), DPT1-3, meningococcal polysaccharide vaccine group A (MPVA), measles amd rubella vaccine/measles vaccine 1st dose (MRV/MCV1), and Japanese encephalitis vaccine 1st dose (JEV1) were 100%(72 cases), 75%(51 cases), 97%(66 cases), 91%(62 cases), 82%(56 cases), 66%(45 cases), 69%(42 cases), and 61%(37 cases) respectively. The reasons why the children did not complete the vaccination plan were that parents were concerned about vaccination-induced seizures or seizures had not been controlled. Among 72 children with TSC, the rate of adverse events or suspected adverse events after vaccination was 17% (12 cases), which was higher than the normal control children (2 cases, 3%) (χ2=8.799, P<0.05). The main adverse events were seizure events, which accounted for 92%(11 cases).@*Conclusion@#The age-appropriate NIP coverage rate among children with tuberous sclerosis is low. The high incidence of adverse events may be associated with a fact that there are some nervous system abnormalities in cases with tuberous sclerosis. TSC children vaccination is relatively safe, with no serious adverse events.
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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.
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There was a 1 1 -year -old school -aged girl complaining of abdomen intumescing and declining physical fitness for 1 6 months,and hydropericardium for 5 months.The child had a intumescent abdomen and strength diminished strength suddenly.After the strenuous exercise she was more tired than before and lost her appetite.The girl was found cardiac enlargement and calcification of pericardium during security check at the airport.The thoracoabdomi-nal computed tomography(CT)suggested hydropericardium,hydrothorax effusion in the right,and seroperitoneum,pel-vic effusion.The girl had no response to pericardiocentesises,anti -inflammation and antituberculosis therapies.The in-flammatory markers and the findings of autoimmunity were normal after her admission.The purified protein derivatives (PPD)test was (++),but the antituberculosis therapy was invalid,so the diagnosis was unclear.The she had peri-cardiectomy.The pericardium visceral and parietale′s pathology showed hyperplasia,hyalinosis and organization of fi-brous connective tissue,congestion of the blood capillaries,infiltration of inflammatory cells.Terminally,she was diag-nosed as constrictive pericarditis.Symptoms disappeared after treatments with cardiotonic,diuretic and potassium sup-ply.The comprehensive analysis is important clinically,the possible causes should be removed gradually,and pathologi-cal examination must be emphasized during the diagnosis of constrictive pericarditis.
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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.
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ObjectiveTo explore the expression of monokine induced by interferon- γ(Mig) in serum and chemokine receptor 3(CXCR3)on lymphocytes of peripheral blood in children with bronchiolitis.MethodsIn this study, 55 patients with bronchiolitis in our hospital were randomly recuited, and were divided into two groups: atopic group and non-atopic group. Of the same age 26 healthy children had been enrolled randomly as control group. The level of CXCR3 expression (CD183) on lymphocytes of peripheral blood was detected by lfow cytometry in all children. The level of Mig in serum was assayed by ELISA.ResultsThe level of CD183 expression on the CD3+CD4+T lymphocytes in atopic group and non-atopic group(16.39±4.13%,14.39±3.74 %)were higher than that of control group(11.17±3.13%,P<0.05),CD183+CD4+/CD4+% in atopic group were higher than that in non-atopic group(P<0.05). The level of CD183 expression on CD3+CD8+T lymphocytes in atopic group and non-atopic group(67.18±10.57 %, 61.44±11.46 %)were higher than that of control group(51.19±5.42 %, P<0.05),CD183+CD8+/CD8+% in atopic group were signiifcantly higher than that in non-atopic group(P<0.05). The level of Mig in serum of children with bronchiolitis in atopic group and non-atopic group(99.67±35.77ng/L, 120.28±32.28ng/L)were signiifcantly higher than that in control group(63.90±15.82 ng/L,P<0.05). The level of Mig in non-atopic group was higher than that in atopic group, there was signiifcant difference(P<0.05).ConclusionsMig and CXCR3 are involved in the pathogenesis of bronchiolitis, and CXCR3 may relate to allergic factors.
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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.
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Base on the definition,classification and diagnostic condition of cerebral palsy published by Pediatrics Neurology Group of Chinese Medical Association in 2005 and Child Rehabilitation Committee of Chinese Rehabilitation Medical Association in 2007.Referencing foreign diagnosis and treatment guidelines for child with cerebral palsy and the current paper report,going through more than once discussion,compiled by Chinese Compiling Committee of Rehabilitation and Treatment Guidelines for Cerebral Palsy so as to guide comprehension of the definition of cerebral palsy,enhance the level of diagnosis and classification of cerebral palsy for clinic doctor and all so acting on international convention.
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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.
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Objective To examine the preventive effect of magnesium sulfate on hypertension caused by ACTH in the treatment of infantile spasms (IS). Methods 46 children diagnosed as IS were recruited from two hospitals during May, 2011 to October, 2013.23 patients in group A (treatment group) were treated with magnesium sulfate and ACTH in hospital A;another 23 cases in group B (control group) were treated with ACTH only in hospital B. The therapy course was 2 weeks. Results Hyperten-sion was not observed in the treatment group, while 6 children were observed with hypertension in the control group. There was signiifcant difference between the two groups (P<0.05). Conclusions Magnesium sulfate could prevent the incidence of hyper-tension in the treatment of IS with ACTH, and beneift the completion of treatment course.