Clinical study of 41 children with acute necrotizing encephalopathy / 中华实用儿科临床杂志

Objective:To investigate the clinical features and prognosis of acute necrotizing encephalopathy (ANE) in children.Methods:The clinical data and follow-up information of 41 pediatric patients with ANE treated in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from January 2014 to September 2019 were retrospectively reviewed.Results:The 41 patients included 23 males and 18 females with the onset age of (4.4±3.2) years.The main prodromal symptoms were gastrointestinal (20/41 cases, 48.8%) and respiratory infections (19/41 cases, 46.3%). Acute encephalopathy progressed rapidly following the prodromal infection [29 cases (70.7%) ≤2 days], and patients had clinical manifestations of coma (32/41 cases, 78.0%), convulsion (32/41 cases, 78.0%), multiple organ dysfunction (27/41 cases, 65.9%), shock and disseminated intravascular coagulation were rarely occured, and 28 cases (68.3%) were admitted to intensive care unit for treatment.Brain magnetic resonance imaging (MRI) showed lesion involving thalamus (41/41 cases, 100.0%), periventricular white matter (34/41 cases, 82.9%), brainstem (31/41 cases, 75.6%), basal ganglia (26/41 cases, 63.4%), cerebral cortex and subcortex (20/41 cases, 48.8%) and cerebellum (18/41 cases, 43.9%). The common presentations on the apparent diffusion coefficient mapping of brain MRI were " tricolor pattern" or " bicolor pattern" of the thalamus.During follow-up (≥ 6 months), MRI showed that hemorrhage, cystic degeneration and atrophy changed dynamically with the progression of ANE.All cases were treated with glucocorticoids, 38 cases(92.7%) with intravenous immune globulin.Seven cases (17.1%) were died and the 34 survivors had different degrees of neurological dysfunction.Conclusions:ANE in children is a distinctive type of clinicoradiologic syndrome with rapid progression and various presentations.Brain MRI has typical imaging characteristics and dynamically indicates the progression of this disease.The treatment options are still limited, the prognosis is poor and the survivors are often with neurological dysfunction.

Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA / 中华医学遗传学杂志

Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.

Imaging diagnosis of acute necrotizing encephalopathy of childhood / 中华放射学杂志

Objective:To analyze the imaging features of acute necrotizing encephalopathy of childhood (ANEC), and try to investigate its potential clinical value.Methods:The clinical and imaging findings of 22 children from Wuhan Children′s Hospital diagnosed with ANEC were retrospective analyzed, from January 2013 to October 2018. All children were presented with hyperpyrexia and rapidly developed into rapid neurological deterioration after prodromic infection. In the initial imaging examination, all patients underwent head MRI, and 6 cases underwent additional head CT. During MRI follow-up, 4 cases were lost, 6 cases were followed up only once (<14 days), and 12 cases were followed up 1 to 2 times at short-term and 1 to 4 times at long-term (>14 days).The presence of hemorrhage and encephalomalacia in thalamus, brainstem, white matter and basal ganglia was carefully investigated throughout the follow-up.Results:For the imaging manifestations of ANEC, bilateral thalamus were involved in all children. Other symmetrical lesions included white matter (14 cases), basal ganglia (15 cases), brainstem (16 cases), cerebellum (9 cases), corpus callosum (2 cases) and hippocampus (1 case). There were 3 children with asymmetric lesions, which were found in white matter (2 cases) and cerebellum (1 case).In the acute phase, the most typical head MRI showed "tricolor pattern"(high signal intensity in the center with surrounding low-signal, and hyperintense signals in the periphery of thalamus) or "bicolor pattern"(low signal in the central thalamus with surrounding hyperintense signals) of the thalamus on the apparent diffusion coefficient (ADC) imaging. Hemorrhage and encephalomalacia on MRI may suggest poor clinical outcome.Conclusions:ANEC is a rapid progressive encephalopathy with typical imaging features. Hemorrhage and encephalomalacia on MRI may be associated with poor prognosis.

Management System of Implantable Medical Device in Accordance with JCI Standard Based on HRP System / 中国医疗器械杂志

JCI standard is the most professional and authoritative certification standard of medical quality and safety system in the world. HRP information system is a systematic hospital resource management platform which integrates the existing hospital information resources and establishes a set of unified, efficient, interconnected and information sharing operation and management of the hospital. In order to meet the requirements of closed-loop management of implantable medical devices in the JCI standard, our hospital has established a set of standards which based on the HRP system platform, including access permission, purchase application, entering and leaving the warehouse, bookkeeping charge, cost accounting and postoperative traceability of implanted medical device management system. HRP system improves the management level of implantable medical devices, and realizes the closed-loop management of the whole process of implantable medical devices.

A wave is a marker in demyelination subtype in children′s Guillain-Barré syndrome and it correlates with short-term prognosis / 中华实用儿科临床杂志

Objective@#To explore the A wave value in neuroelectrophysiological subtype of Guillain-Barré syndrome(GBS)and the clinical severity and short-term prognosis of acute inflammatory demyelinating polyradiculoneuropathy(AIDP).@*Methods@#From March 2014 to March 2017, a total of 56 children with GBS at Department of Neurology of Wuhan Children′s Hospital Affiliated to Tongji Medical College, Huazhong University of Science & Technology were enrolled.The patients were divided into AIDP subtype(40 cases) and axonal GBS subtype(16 cases) according to the results of electrophysiological examination.According to whether there was existence of A wave or not, the GBS children were divided into 2 groups.The first group was the A wave in GBS group(18 cases), and the second group was non-A wave in GBS group(38 cases). In order to explore classification value for GBS with A wave, clinical data including age, gender, history of prodromal infection, cranial nerve dysfunction, autonomic nerve involvement and conduction blocks were analyzed.To explore A wave value in clinical severity and short-term prognosis of AIDP, the age, gender, clinical severity, conduction blocks, short-term prognosis of the 2 groups were analyzed in A wave with AIDP (18 cases) and non-A wave with AIDP(22 cases).@*Results@#Compared with non-A wave GBS patients, A wave GBS patients had more conduction blocks(10 cases vs.2 cases, χ2=18.021, P=0.000). Age, sex, precedent infections, cranial nerve involvement, autonomic nerve involvement were not significantly statistically different(all P>0.05). A wave was only seen in AIDP subtype(18 cases), and the percentage of A wave in AIDP was 45%(18/40 cases). There was no A wave in axonal GBS.Compared with non-A wave in AIDP, A wave in AIDP patients had more conduction blocks(10 cases vs.2 cases, χ2=9.924, P=0.002), poorer clinical motor function[(3.39±1.09) scores vs.(2.50±1.01) scores, t=2.667, P=0.011]and short-term prognosis[(2.06±0.64) scores vs.(1.55±0.60) scores, t=2.607, P=0.013].@*Conclusions@#A wave is correlated with demyelination subtype in children′s Guillain-Barré syndrome and poor short-term prognosis in AIDP.

Efficacy observation of high dose oral methylprednisolone in the treatment of infantile spasms / 中国医师杂志

Objective To investigate the clinical efficacy and safety of oral high-dose methylprednisolone in the treatment of infantile spasms (IS).Methods The clinical data of 38 children with infantile spasms were analyzed retrospectively who treated with oral administration of high-dose methylprednisone in Department of Neurology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science and Technology from January 2016 to April 2017.Results (1) Twenty patients (52.6％) of all the 38 patients were seizure-free after 2 weeks of treatment,and 16 cases (42.1％) were seizure-free at the end of treatment.(2) All the 38 cases were typical or atypical hyperarrhythmia.After treatment of 2 weeks,25 cases (65.8％) of hyperarrhythmia disappeared;at the end of the treatment,30 cases (78.9％) of hyperarrhythmia disappeared.(3) Adverse effects mainly were weight gain,Cushing signs,increased appetite,irritability,drowsiness,co-infection,electrolyte disturbance.(4) Follow-up of 3 to 12 months,the recurrence rate was low and the development quotient had improved.Conclusions Oral high dose methylprednisolone in the treatment of IS is effective,safe and has a low recurrence rate.It can be recommended in clinicalal application.

3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features and genetic characteristics of patients with 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) gene mutations.</p><p><b>METHOD</b>The clinical data of a patient with novel HIBCH mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms" HIBCH", "3-hydroxy-isobutyryl-CoA hydrolase" or "beta-Hydroxyisobutyryl CoA Deacylase Deficiency". The clinical features, neuroimage and treatment of the patients with HIBCH gene mutations were studied.</p><p><b>RESULT</b>The patient was a girl who was born at term after an uneventful pregnancy to non-consanguineous healthy parents, she was hospitalized at 5 years and 5 months of age because of development delay for 5 years and 5 months and abnormal posture on the left of body for more than 10 days. The family history was unremarkable. Her psychomotor development was significantly delayed. Three times brain MRI between 2. 5 years and 5 years of age revealed bilateral symmetrical lesions in basal ganglia. At the age of 5 years and 5 months, she presented with acute encephalopathy and severe extrapyramidal symptoms preceded by fever. At that time, her brain MRI revealed aggravated lesions in bilateral basal ganglia, new lesions in the midbrain cerebral peduncle and pons, and cerebellar atrophy. The results of biochemical tests were normal. A novel compound heterozygous mutation of HIBCH gene, c. 1027C > G, p. H343D and c. 79-1G > T, splicing, were found in the parent. Further study showed that c. 1027 C > G mutation was inherited from her father and c. 79-1 G > T from her mother. Her symptoms were mitigated after "cocktail" therapy and symptomatic treatment. Repeated brain MRI revealed that the lesion in basal ganglia got better, the lesions in brain stem disappeared. Literature relevant to HIBCH published all around the world was reviewed, no Chinese cases with HIBCH gene mutations had been reported, 6 foreign cases with HIBCH gene mutations were reported. Among them, 5 patients were diagnosed as Leigh-like syndrome, with progressive neurodegenerative course, and symmetrical basal ganglia lesions on brain MRI. Another case was reported in 1982, with developmental delay and various physical malformations without data on his brain MRI. HIBCH gene mutational analysis showed that 4 cases had homozygous mutations, which were c. 950G > A (p. G317E) in two brothers, c. 219 _220insTTGAATAG (p. K73fsX86) and c. 1128_1129insT (p. K377X) respectively. Three of them died before 3 years old. Two cases had compound heterozygous mutations: c. 365A > G (p. Y122C) and IVS2-3C > G (p. R27fsX50); c. 517 + 1G > A and c. 410C > T (p. A137V). They were alive at the time of the report.</p><p><b>CONCLUSION</b>Patients with HIBCH gene mutation mainly presented as Leigh-like syndrome both in clinical manifestation and in neuroimage. HIBCH gene mutational analysis should be performed on children with Leigh-like syndrome, if the mutations of known genes of Leigh syndrome were negative.</p>

Effect of Kidney-tonifying, Dampness-dispelling and Blood-activating Chinese Medicine on Bone Remodeling of Cell Model in Vitro / 广州中医药大学学报

Objective To explore the effect of Zhengu Pills ( a kidney-tonifying and blood-activating Chinese medicine) and Guci Fengshi Pills ( a dampness-dispelling and blood-activating Chinese medicine) on bone remodeling of cell model in vitro. Methods MC3T3-E1 and RAW264.7 cells were differentiated into osteoblasts ( OB) and osteoclasts ( OC) after stimulated by different inductive agents respectively, and then OB and OC were co-cultured. Immunocytochemical staining was applied to identify the construction of co-cultured OB and OC system. The serum containing corresponding medicine was prepared after the rats were given intragastric administration of Diacerein, Zhengu Pills and Guci Fengshi Pills. And then the obtained serum was used for treatment of co-cultured cells separately. At the end of experiment, Western blotting and real-time polymerase chain reaction (PCR) tests were carried out. Results The osteoprotegerin (OPG) expression was increased and gene expression of glycoprotein 130 (gp130) was decreased in co-cultured cells after treatment with the serum containing Zhengu Pills and Guci Fengshi Pills ( P<0.05) . Conclusion Zhengu Pills and Guci Fengshi Pills have therapeutic effects on osteoarthritis ( OA) by inhibiting the bone resorption function of OC by the down-regulation of gp130 and by enhancing bone formation and increasing the bone density through recombinant murine’s RANK ligand (RANKL) -RANK-OPG system.

Rehabilication research of mentally ill in community health service organization based on health management / 中华健康管理学杂志

Objective To evaluate the present rehabilitation status of mentally ill patients at community health service centers in Shanghai. Method Investigation on mental disorder network, present prevalence, community disease classification, and cost-effect assessment was conducted in 201 health service centers in Shanghai in 2007. Result Working condition, staff-member constitution, and finical investment were unoptimistic. However, the community health service centers consider the outcomes of community rehabilitation and management were satisfactory. Conclusion It should be necessary to facilitate the development of community mental health service system, achieve various community rehabilitation and health care, and improve social security system of community healthcare providers.

Effect of Kangmeifu burns ointment on expressions of EGF,TNF-? and TGF-?_1 in wound tissue of burned rat models / 中华中医药杂志

Objective:To treat the burned wounds with Kangmeifu burns ointment and observe the expression levels of EGF,TNF-? and TGF-?1 in the process of wound healing.Methods:Immunohistochemistry and image analysis methods were conducted to examine the expressions of EGF,TNF-? and TGF-?1 in both groups at 3,5,7,9 and 14 days after scalding.Results:①Expression of EGF:EGF began to express from the 1stday.It expressed significantly at the 5th day,maintained a higher level at the 7th and 14th days.In the blank control side,the peak expression occurred at the 7th day.② Expression of TNF-?:TNF-? had two peaks respectively in both sides.The peaks in the blank control side ocurred at the 3th and 9th days respectively,and the peaks in the Kangmeifu burns ointment treated side ocurred at the 3th and 7th days,and the second peak was obviously earlier than that in the blank control side.③Expression of TGF-?1 :TGF-?1 began to express from the 1stday.It expressed significantly at the 5th day,and reduced at the 9th day.In the blank control side,the peak expression occurred at the 7th day.In the blank control side,there was almost no TGF-?1 expression at the lst day.It expressed weakly at the 3th day.The peak expression occurred at the 7th day.Conclusion:Kangmeifu burns ointment can accelerate the process of wound tissue healing through enhancing EGF,TGF-?1 expression at the beginning and inhibiting TNF-? overexpression later.

Determination of geniposide and scutellarin in Yinshanlian Granules by HPLC / 中成药

AIM:To develop a HPLC method for determining scutellarin and geniposide in Yinshanlian Granules(Herba Artemisiae scopariae,Herba Scutellariae barbatae, Fructus Gardemiae,etc). METHODS: The analysis was performed on Diamonsil C_(18)(200 mm?4.6 mm,5 ?m) with mixture of acetonitrile(A) and 0.1% phosphoric acid solution as mobile phase in gradient mode.The concentration of solvent A were 5%,33%,5% and 5% at 0,30,31 and 35 min,respectively.The detection wavelength was set at 240 nm and the column temperature was at 30 ℃.(RESULTS:)The linear calibration curves were obtained in the concentration range of 0.032-0.288 mg/mL for scutellarin and 0.009 6-0.086 4 mg/mL for geniposide.The average recoveries of scutellarin and geniposide were 100.6%(RSD=0.80%,n=9),102.6%(RSD=1.1%,n=9),respectively.CONCLUSION: The method is quick,simple,and reproducible,which can be used to control the quality of Yinshanlian Granules.