Table of Content

15 November 2017 Volume 35 Issue 11

  

Impact of factors to delayed diagnosis and its clinical outcome on Guillain-Barré syndrome

SUN Ruidi，KUANG Guangtao，LIU Mingyang，FENG Li，LIU Zhisheng, JIANG Jun

. 2017, 35(11):  801.  doi:10.3969/j.issn.1000-3606.2017.11.001

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Objective　To investigate the factors in diagnosis delay in Guillain-Barré syndrome (GBS) and its impact on prognosis. Methods　In this study 118 GBS children including Miller-Fisher syndrome (MFS) and pharyngeal-cervical-brachial Guillain-Barré syndrome (PCB) were studied. All children included were divided into 2 groups as GBS-initially-diagnosed group (GBSid, n=76) and not-GBS-initially diagnosed group ( nGBSid, n=42) based on the initial diagnosis. Analysis was performed with age at disease onset, preceding infection, Hughes functional grading (HG), the department where the instial diaghosis is done, main complain, the days from disease onset to seeing doctor, time start to treatment, the discharge time, evaluation by a neurologist. Results　Among 118 GBS, 90 children were of classical GBS, 13 of MFS, and 6 of PCB. Atypical muscle weakness, neuropathic pain and impaired respiration function were more frequently seen in nGBSid group（P<0.05）. At the initial diagnosis, lacking of neurological evaluation was found more frequently in nGBSid group （P<0.05）. The duration from onset to the commencement of treatment was longer in nGBSid group than that in GBSid group（P<0.05）, and short term prognosis was poor in GBSid group (P<0.05). Conclusions　Atypical main complaints including neuropathic pain, the impaired respiration function and atypical muscle weakness, and lack of neurological evaluation were all associated with a delay in considering the diagnosis of GBS. The delay in diagnosis had a significant impact on short term prognosis.

The clinical and genetic features of a case with antenatal form of leukoencephalopathy with vanishing white matter disease　

ZHANG Xiaoli, WANG Lijun, JIA Tianming, HAN Rui, ZHAO Xin

. 2017, 35(11):  806.  doi:10.3969/j.issn.1000-3606.2017.11.002

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Objective　To explore the clinical features and gene mutations of antenatal form leukoencepha1opathy with vanishing white matter disease (VWM). Methods　The clinical data and genetic test results in a patient with antenatal form of VWM were retrospectively analyzed. Results　A three months old patient was admitted to our hospital with intermittent convulsions commenced from the first month after birth. The baby had low birth weight (1900g) and asphyxia at birth. Developmental retardation and cataracts in both eyes were found on physical examination, and the patient couldn’t stare, gaze-following, be amused and raise his head. In addition, he showed hypermyotonia of both lower extremities. Diffused and symmetrical abnormal signals same as that of the cerebrospinal fluid in the cerebral white matter were observed by brain CT and MRI scanning, and the lesions were gradually enlarged. Moreover, a missense mutation (c.1016G>A) and a frameshift mutation (c.1809delC) in EIF2B5 gene inherited from his parent were detected by DNA sequencing. Conclusions　VWM is one of the most prevalently inherited childhood white matter disorders, but the case of antenatal form is very rare. The diagnosis should be based on clinical manifestations and EIF2B genetic analysis. To our knowledge, the frameshift mutation c.1809delC has never been reported to date.

A case of SUCLG1 -related infantile encephalomyopathy mitochondrial DNA depletion syndrome

LU Xiangpeng, LI Dongxiao, DUAN Fengyang, LI Huawei, YAO Xianhua, MA Bingxiang, QIN Yaping, YANG Yanling, ZHENG Hong

. 2017, 35(11):  810.  doi:10.3969/j.issn.1000-3606.2017.11.003

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Objective　Mitochondrial DNA depletion syndrome is a rare autosomal recessive disorder characterized by complex genetic and clinical manifestations. This study aimed to investigate the clinical and laboratory features of a boy with mitochondrial encephalomyopathy caused by SUCLG1 mutation. Methods　The clinical data and genetic test of a patient with mitochondrial DNA depletion syndrome were retrospectively analyzed. Result　The proband presented with limb weakness at the 4th month after birth, and presented dystrophic appearance, muscular hypotonia, psychomotor retardation, failure to thrive, hearing impairment, scoliosis, thoracocyllosis and facial features at 9 months old. Laboratory tests showed blood lactic acid and pyruvate increased, liver damage and abnormal myocardial enzymes. Plasma carnitine ester profiling showed that amino acids decreased and C4-dicarboxylic-carnitine increased. Urinary organic acid analysis showed increased concentration of methylmalonic acid and its metabolites indicating methyl malonic aciduria. MRI showed bilateral T2 hyperintensities in bilateral caudate nuelei and lenticular and brain atrophy-like changes. Brainstem auditory evoked potential showed severe hearing loss. His development quotient was 35. Genetic sequencing of MUT, MMAA, MMAB and other classic mitochondrial disease related genes of the proband revealed no mutation. Two heterozygous mutations, c.961C>G and c.713T>C, inherited from the phenotype of normal parents were detected in his SUCLG1 gene. The copy number of mitochondrial DNA was 244/cell in peripheral blood leukocytes, equivalent to 68.4% of that in normal control. Conclusion　In this study, an infant with muscular hypotonia, psychomotor retardation, deafness and slightly increased urine methyl malonic acid was diagnosed by genetic test. For patients with unexplained hypotonia, mental retardation, abnormal movements, hearing disorder together with increased blood pyruvic  acid and lactic acid , mild methylmalonic acidemia and abnormal acylcarnitine, mitochondrial DNA depletion syndrome should be considered. Gene analysis is important for diagnosis and prenatal diagnosis of the next pregnancy.

A case of Cockayne syndrome caused by ERCC8 gene mutation

　MA Xiuwei, ZHAO Jiayan, GU Ruijie, FENG Zhichun

. 2017, 35(11):  815.  doi:10.3969/j.issn.1000-3606.2017.11.004

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Objective　To explore the clinical, radiological and gene mutation features of ERCC8 gene in one patient with Cockayne syndrome. Methods　Clinical and radiological data of a girl diagnosed with Cockayne syndrome through gene detection were retrospectively analyzed. Next-generation sequencing was used to detect genetic cause. Sanger sequencing was used to confirm the candidate variants and detect mutations in her parents and sister. Results　The patient showed psychomotor retardation, growth failure, special face, and light sensitivity. Neurological examination revealed noticeable developmental delay, motor impairment, spastic paralysis, and cerebellar ataxia. Brain MRI revealed symmetrical demyelination of bilateral centrum semiovale and periventricular white matter. The cerebellum was atrophic. The patient was found to have compound heterozygous mutations of c.397C>T(p.Q133X) and c.394＿398del(p.L132fs). Sanger sequencing showed these two mutations were inherited from her mother and father respectively. Conclusions　Next-generation sequencing technology is a useful tool for the detection of mutation in ERCC8 gene, which is valuable for the diagnosis of Cockayne syndrome. These two mutations expanded the mutation spectrum of Cockayne syndrome in Chinese population.

A homozygous mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy: a case report

　LU Hongzhu, CHEN Rong, CHEN Yanhui

. 2017, 35(11):  820.  doi:10.3969/j.issn.1000-3606.2017.11.005

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Objective　To explore the clinical and the genetic features of infantile neuroaxonal dystrophy (INAD). Methods　The clinical and laboratory data, neuroimaging examination and genetic testing results of one child with INAD were retrospectively analyzed. Results　A 2 years old boy presented motor and verbal dexterity regression and hypotonia. Laboratory findings revealed decreased total iron-binding capacity in serum with increased glutamic oxaloacetic transaminase (AST) and lactic dehydrogenase (LDH). Myoelectrography showed neurogenic impairments of the arms and legs, and the color doppler ultrasound of the heart, video-EEG and brain MRI results were normal. A homozygous mutation of c.1077G>A was found in PLA2G6 gene of the infant. The infant’s parents were heterozygous mutation carriers at this locus. Conclusions　PLA2G6 gene mutations cause INAD.

Clinical value of active electroencephalography in attention-deficit hyperactivity disorder

XU Jing, ZHANG Jie

. 2017, 35(11):  823.  doi:10.3969/j.issn.1000-3606.2017.11.006

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Objective　To explore the value of active electroencephalography (AEEG) in the diagnosis of  attention-deficit hyperactivity disorder. Methods　Routine EEGs were performed in 179 patients with attention-deficit hyperactivity disorder. AEEGs were performed in 117 patients who have been performed routine EEGs. Results　Abnormal discharge was observed in 17 cases in routine EEGs and epileptiform activities were found in 6 patients. The abnormal rate is 9.5%. Abnormal discharge was observed in 21 cases in AEEGs and epileptiform activities were found in 12 patients. The abnormal rate is 17.9%. Conclusions 　AEEG is an important clinical examination which also serves as a reference for brain function and epilepsy. AEEG could help judge the prognosis of epilepsy comorbiding with attention-deficit hyperactivity disorder.

Effects of a GOS+FOS supplemented formula on stool characteristics and fecal beneficial bacteria content in infants

WU Jiang, JIANG Yongjiang, CHAI Lingying, TANG Qingya, CAI Wei

. 2017, 35(11):  826.  doi:10.3969/j.issn.1000-3606.2017.11.007

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Objective　To investigate the impact of an infant formula supplemented with 1.34 g/L oligosaccharides mixture (galactooligosaccharides and fructooligosaccharides, GOS+FOS) on growth, stool characteristics and fecal beneficial bacteria content in healthy infants. Methods　25 formula-fed (FF) infants and 29 breast-fed (BF) infants within 3 weeks after birth were included and followed up. FF infants were exclusively fed with GOS+FOS supplemented formula at the median age of 13d (1-27d). Body weight and head circumference at 6 and 12 weeks were measured. The frequency, consistency, and color of the infant’s stool, and occurrences of spit-up or vomiting during the study period were recorded daily by the parents. Stool samples were collected at 6 and 12 weeks of age, and then subjected to quantitative real-time polymerase chain reaction assays for the enumeration of lactobacillus, bifidobacteria, Bifidobacterium longum, Bifidobacterium breve and Bifidobacterium adolescentis. Results　No difference in daily weight gain was detected between the two groups (33.56 ± 7.03g vs. 31.18 ± 6.91g, P=0.22) during the observation phase from 6 to 12 weeks. FF infants had less frequent and firmer stools at 6 weeks than BF infants, and they both had similar stool frequency, color and consistency at the end of study. FF infants had less fecal Bifidobacterium, B. longum and B. breve at 6 weeks, but those differences became less significant at 12 weeks with more increase in fecal B. longum and B. breve levels in FF infants during the follow up. Conclusions　The GOS+FOS supplemented formula provides adequate nutrition for growth, and promotes soft stools and intestinal bifidogenic effects in healthy infants.

Analysis of correlation between immunosuppression and organ dysfunction in children with sepsis

SUN Hang, ZHANG Xianwei

. 2017, 35(11):  832.  doi:10.3969/j.issn.1000-3606.2017.11.008

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Objective　To analyse the relationship between immunosuppression and severity of sepsis in children, thus to explore the role of immunity in the progression of sepsis and provide a reference for the treatment of sepsis in children. Methods　In this retrospective study, 375 children with sepsis were included. Blood specimens were collected for the analysis of lymphocyte subsets and humoral immunity in 24 hours after admission into ICU. Univariate analysis was performed between immunity indices and organ dysfunction. Logistic stepwise regression was used to screen out the risk factors of multiple organ dysfunction (MKDS) and mortality. Results　Sepsis children were divided into three groups, no organ dysfunction, single organ dysfunction and multiple organ dysfunction. NK cell percentage, CD4/CD8 and C3 were different among three groups, and significantly lower in MODS children. Multivariate analysis showed decreased CD4/CD8 (OR=0.66, 95%CI:0.51-0.85). C3 level (OR=0.20, 95%CI:0.10-0.42) were associated with MODS. CNS infection (OR=2.54, 95%CI:1.35-4.77) and pneumonia infection (OR=2.29, 95%CI:1.36-3.83) were also risk factors of MODS. Depletion of C3 (OR=0.26, 95%CI:0.09-0.76) and pneumonia infection (OR=2.61, 95%CI:1.12-6.09) were risk factors of mortality. Conclusions　CD4/CD8 and complement C3 were significantly decreased in sepsis children with MODS, immunosuppression may play an important role in the development of MODS in children with sepsis. Baseline CD4/CD8 and C3 level could be potential prognostic markers of sepsis.

Clinical and radiological manifestations of 5 pediatric cases with cystic fibrosis

SUN Yan, ZHONG Yumin, ZHU Ming, WANG Shiyu, WANG Jian, ZHANG Hao, ZHANG Lei, SHAO Hong

. 2017, 35(11):  837.  doi:10.3969/j.issn.1000-3606.2017.11.009

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Objective　To explore the clinical manifestations and radiological features of cystic fibrosis (CF) in children. Methods　The clinical and radiographic data of 5 CF patients were retrospectively analyzed. Results　Among the 5 cases, there are 3 males and 2 females, aging from 2 to 13 years old (median age 6). Four of the five cases had complaints of repeated productive cough with or without fever and short breath. Pseudomonas aeruginosa was positive in sputum culture of three cases. Chest CT showed pneumonia and bronchiectasis with peribronchial thickening and mucus plugging. Paranasal CT showed frontal sinus agenesis and sinusitis with sticky secretion. The other one of the 5 cases had a complaint of abnormal hepatic function. The abdominal MRI showed liver cirrhosis and high signal intensity in the periportal area on T1-weighted imaging. Chest CT showed air trapping from small airways obstruction and bronchiectasis with sputum plugging. Five recurrent and two novel CFTR mutations were identified in all of the 5 cases. Conclusions　The radiographic findings of CF are characteristic, and of great significance to the clinical diagnosis of CF. The gene mutations of CF in Chinese are different from those in Caucasians.

A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene

　GUO Hongmei, LI Mei, JIN Yu，YANG Guang

. 2017, 35(11):  841.  doi:10.3969/j.issn.1000-3606.2017.11.010

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　Objective　To discuss the clinical features，hepatic pathology，and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation. Methods　Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed, and the related literatures viewed. Results　The child had different degrees of cholestasis, hepatomegaly, elevated transaminases, normal-glutamyl GGT(γ-GT) and normal total bile acid. The hepatic pathology showed intrahepatic cholestasis, inflammatory cell infiltration and expansion and hyperplasia of bile capillary. Gene testing found heterozygous mutations of CYP27A1 (c.1263+1G>A / c.1477-3C>G) in the child. The variant of c.1477-3C>G is a novel mutation. Conclusions　The possibility of bile acid synthesis disorder should be considered when infants have cholestasis, elevated transaminase, hepatomegaly, and normal or reduced γ-GT and total bile acid. Gene testing should be used for early diagnosis, treatment to improve prognosis.

Juvenile-onset clinically amyopathic dermatomyositis complicated with progressive interstitial pneumonia: report of one case and review of the literature

WANG Hong, MA Mingsheng, SONG Hongmei, WEI Min

. 2017, 35(11):  844.  doi:10.3969/j.issn.1000-3606.2017.11.011

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Objective　To analyze the clinical features of juvenile-onset clinically amyopathic dermatomyositis complicated by progressive interstitial pneumonia. Methods　A retrospective analysis of a case of juvenile-onset clinically amyopathic dermatomyositis on clinical features, diagnosis and treatment was performed. Data of the other three reported cases were also reviewed. Results　The patient was an adolescent girl presented with Gorrton's sign. The patient did not have fatigue and got normal result in creatine kinase and elctromyogram test. The HRCT exam showed interstitial pneumonia. The mean age of the four cases at the time of onset is 12.3 years old. Gottron's sign (3/4) and fever (2/4) are the most common symptoms of onset. Anti-nuclear antibody (ANA), anti-Jo-1 antibody are 100% negative in the four patients. Two of the four patients who received anti-Ro-52 antibody test are both positive. Three of the four patients were asymptomatic when the CT scan showed interstitial pneumonia. The interstitial pneumonia was progressive and three of the four patients died of respiratory failure within six months. Treatment with glucocorticoid and immunosuppressant was successful in one case. Conclusions　Juvenile CADM can be complicated by progressive interstitial pneumonia. Children suspected CADM should perform pulmonary imaging examinations to find interstitial pneumonia. Children diagnosed as CADM complicated by interstitial pneumonia should receive glucocorticoid and immunosuppressant treatment to prevent progression.

Clinical features of Diamond-Blackfan anemia and gene testing

SHI Yumei, MA Jie

. 2017, 35(11):  848.  doi:10.3969/j.issn.1000-3606.2017.11.012

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　Objective　To investigate the clinical and genetic features of Diamond-Blackfan anemia (DBA). Method　The clinical manifestations and genetic tests of 2 cases with DBA were retrospectively analyzed, and the related literatures were reviewed. Results　Two female patient （3-4 month old）with progressive ochriasis nearly a month was included.  Fever, seizure, vomit and abnormal change in urine and stool routine test were not shown. Blood routine test: the number of RBC in the two patients was decreased（1.24 ×1012/L and 1.48×1012/L）, HGB (46 g/L and 39 g/L）, and the number of RTC was also decreased (4.1×109/L and 4.3×109/L), RCV was normal (108.4 fl). Serum iron determination: Fe (44.3 mmol/L and 41.5 mmol/L) and ferritin (469.2 mmol/L and 491.7 ng/mL) were increased, transferrin was in the normal range. Erythrocyte fragility test resulted normal. Bone marrow examination found rarely erythroblasts. A novel heterozygous mutation in RPS19 gene, c.91C>T（p. P31S）, was found by genetic testing on patient 1. And we found a heterozygous mutation in RPL5 gene (c.472_473del) in patient 2. Conclusion　The majority of onset age of childhood DBA was within a few months with a erythroid deficiency. And RPS19 gene mutation is a common cause of this disease. The mutation of c.91C>T (p. P31S) has not been reported.

Analysis of influence factors on anemia in preterm infants

　CHEN Fei, TIAN Yuan, GONG Xiaohui, CHEN Jinjin, WANG Yu, YANG Jianmin, ZHANG Yuming, YU Guangjun

. 2017, 35(11):  852.  doi:10.3969/j.issn.1000-3606.2017.11.013

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　Objective　To study the influencing factors on anemia in preterm infants at the corrected age of 6-month-old based on gestational age (GA), birth weight (BW) and feeding patterns. Method　Preterm infants with GA<37 weeks (n=124) were followed up to 6 months of corrected age (CA) between June 2014 and November 2015. The incidence of anemia in preterm infants among different groups according to GA, BW and feeding pattern was statistically analyzed. Results　Preterm infants included are of 70 males and 54 females. Median age of GA was 33.7 weeks with an average BW of 1910g. The incidences of anemia was 30.6% (95% CI: 23%, 38%) in preterm infants at 6 months of CA, 66% in breast-fed preterm infants. which is significantly higher than 19% in those receiving mixed feeding and 13% in those receiving formula feeding (P=0.000). No significant differences in anemia incidence were found among preterm infants of different GA and BW. Conclusions　Anemia incidence in 6-month-old preterm infants is associated with feeding pattern, which conferrs greatest risk. It is necessary to undergo further analysis and treatments for preterm infants with anemia.

Clinical analysis of 8 cases of neonatal hand-foot-mouth disease

　ZHOU Gaofeng, WANG Hongmei, TIAN Shufeng, DENG Jikui

. 2017, 35(11):  857.  doi:10.3969/j.issn.1000-3606.2017.11.014

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　Objective　To study the clinical features, treatment and prognosis of neonatal hand-foot-mouth disease. Methods　Neonatal hand-foot-mouth disease patients admitted from July 2014 to May 2016 were retrospectively studied. EV71, CA16 and universal enterovirus were detected from newborn swabs by RT-PCR. Results　A total of 8 neonatal patients with hand-foot-mouth diseases, 6 boys and 2 girls were diagnosed at an age ranged from 7-26 days. Of them, 7 patients had exposure history. Clinical manifestations including rash (8 cases), fever (6 cases), irritability (4 cases) and vomiting (1 case), nobody suffered convulsions. The results of RT-PCR showed pathogen enterovirus not- EV71 and not-CA16. There were 5 cases of pulmonary infection treated with antibiotic therapy. All of the 8 cases had a good prognosis. Conclusions　Most of the handfoot-mouth diseases had exposure history without specific clinical manifestations. They had not- EV71 and not-CA16 intestinal virus infection, some patients had pulmonary infection. Therefore, neonatal hand-foot-mouth diseases need more clinical attention.

Analysis of diagnosis and treatment of childhood colonic polyps

　WANG Yang,JIN Zhongqin, WU Qingbin

. 2017, 35(11):  860.  doi:10.3969/j.issn.1000-3606.2017.11.015

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Objective　To analyze the influence factors of pathogenesis, clinical manifestations, microscopic morphology and histopathology in children with colonic polyps. Methods　193 cases of colonic polyps were collected in the children’s hospital of Soochow University during the period of July 2010 to July 2015. According to the length of the course, all cases were divided into two groups: short-term group (6 months or less), long-term group (> 6 months). Results　There were 131 boys and 62 girls. The average age was 4.61±2.16 years old. The average disease duration was 7.29±8.30 months (one week to 4 years). There was no significant difference between the two groups in the rate of underweight and anemia, the level of hemoglobin, serum albumin and pre-albumin (P >0.05); The main clinical manifestation included hematochezia (98.7%), abdominal pain (17.10%) and protruding tumor (13.47%); The colonoscopy found 197 polyps, in which 189 were single polyp (95.94%), and 8 were multiple polyps (4.06%). Nine polyps (4.57%) were in the right colon, and 188 polyps (95.43%) in the left colon. All of the polyps were divided into 3 groups: huge polyps group (> 1.5 cm), large polyps group (0.5～1.5 cm), and small polyps group (＜0.5 cm）. There were 17 cases found with small polyps (8.63%), 119 cases with large polyps (60.40%), and 61 cases with huge polyps (30.96%). Between the three groups, there was no significant difference in age, gender, and duration of the disease (P＞0.05). Histopathologic examination showed that most polyps were juvenile polyps (98.69%), inflammatory polyp account for 1.31%. No adenomatous polyps and malignant polyps were found. Conclusions　Hematochezia, abdominal pain and anal tumor are the main complains of colonic polyps in children, there was no significant difference in age and gender. The colonic polyps only have few effects on nutritional status, growth and development in children. Constipation and atopic constitution may be important factors in the development of colonic polyps. The size of colonic polyps has no close relationship with the age, gender and duration of the disease.

Genetic studies in early infantile epileptic encephalopathy

LI Ying

. 2017, 35(11):  864.  doi:10.3969/j.issn.1000-3606.2017.11.016

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　Early infantile epileptic encephalopathy is a group of disorders affecting children at early stages of infancy, which is characterized by frequent seizures, epileptiform activity on EEG, and developmental retardation or regression. As genetic testing methods advance, an increasing number of novel genetic causes have been uncovered, the genetic etiologies and physiopathologic mechanism of these epileptic syndromes are now better understood. The purpose of this article is to review the progresses in the field of genetic studies in some early infantile epileptic encephalopathies.

Advances in insulin-like growth factor-1 in hypoxic-ischemic encephalopathy

WU Nan, CHEN Ting

. 2017, 35(11):  868.  doi:10.3969/j.issn.1000-3606.2017.11.017

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　Hypoxic-ischemic encephalopathy (HIE) is a common cause of neonatal mortality and neurological sequelae. Insulin-like growth factor-1 (IGF-1) is a neurotrophic factor and anti-apoptotic factor that plays an important role in the development and maturation of the central nervous system. In this paper, we intended to provide a new idea and recent progress of HIE by illustrating the mechanism of action of IGF-1 in neuroprotection, nerve repair and neovascularization after brain hypoxia-ischemia injury.

Investigation on tigecycline therapy for severe infections in children

SONG Ying

. 2017, 35(11):  873.  doi:10.3969/j.issn.1000-3606.2017.11.018

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　Tigecycline is a new class of antimicrobials called glycylcyclines, which has been reported to have a specific antibacterial mechanism with a wide spectrum and low resistance rate. In adults, tigecycline safety and efficacy data were widely known. However, its use in children has been extremely limited because of lacking experience on its effects on tooth development and other clinical data in children. When no other alternative antibacterial agents could be chosen due to multidrugresistant bacterial infections, tigecycline would became an available approach to treat severe infections in children. This article offers an overview on tigecycline off-label uses, dosage and safety, and provides evidences for the choice of antibiotics in pediatric patients with severe infections.