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06 August 2014, Volume 29 Issue 8 Previous Issue    Next Issue

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Diagnosis strategy of inherited metabolic diseases. HE Xi-yu. 2014, 29(8): 565-569.  DOI: 10.7504/ek2014080602 Abstract ( )   PDF (1133KB) ( )   Abstract： Strategies used to diagnose inherited metabolic diseases include focusing on precipitating factors and clinical manifestations of acute metabolic disorders（hypoglycemia， hyperammonemia，acidosis），encephalopathy，myopathy and mental/developmental retardation. Common lab studies are almost always needed；amino acid and organic acid studies must be performed for IEM diagnosis；genetic mutation analysis is a powerful tool to get correct diagnosis of IEM.

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Clinical application and interpretation of detection techniques for genetic metabolic diseases. HAN Lian-shu. 2014, 29(8): 569-574.  DOI: 10.7504/ek2014080603 Abstract ( )   PDF (1158KB) ( )   Abstract：In recent years， with the development of science and technology， a growing number of detection techniques for genetic metabolic disease have emerged，including tandem mass spectrometry for blood metabolites detection， gas mass spectrometry for urine metabolites detection， and gene chip and next-generation sequencing technology for gene detection. In addition，some enzyme activity detection techniques began to apply in lysosome disease for testing the enzyme activity.

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Diagnosis and treatment of metabolic encephalopathy in children. BAO Xin-hua. 2014, 29(8): 574-578.  DOI: 10.7504/ek2014080604 Abstract ( )   PDF (1011KB) ( )   Abstract：Due to the metabolic disturbance， hyperammonemia， hypoglycemia， metabolic acidosis and energy deficiency usually presented in many kinds of Inborn Errors of Metabolism （IEM）， which could cause metabolic encephalopathy with poor outcome. The blood and urine samples collected and tested during the acute stage were very important for the early diagnosis and proper treatment. Early initiation of management including supportive therapy， removal of toxic metabolite， provision of optimum vitamins and cofactors， specific drugs and special dietary management， was critical for increasing the survival rate and decreasing the morbidity.

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The genetic counseling and prenatal diagnosis of inherited metabolic diseases. SONG Fang. 2014, 29(8): 578-582.  DOI: 10.7504/ek2014080605 Abstract ( )   PDF (1002KB) ( )   Abstract：In recent years， the significant progress has been made in the clinical diagnosis and treatment of inherited metabolic diseases. The molecular mechanism and pathophysiology of the diseases have been widely studied. Genetic counseling and prenatal diagnosis play an indispensable role in understanding occurrence and preventing recurrence of genetic diseases. This article is willing to present the related contents of genetic counseling and prenatal diagnosis.

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Diagnostic strategies in familial growth hormone deficiency. WANG Chun-lin, LIANG Li. 2014, 29(8): 583-585.  DOI: 10.7504/ek2014080606 Abstract ( )   PDF (1048KB) ( )   Abstracts：Familial growth hormone deficiency is caused by genetic mutations and has three inherited modes: autosomal recessive, autosomal dominant and X-linked recessive. Genetic diagnosis is based on detailed history, a clear clinical phenotype and rational application of molecular biology methods.

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Application of pyrophosphorolysis activated polymerization in detecting gene mutation of McCune-Albright syndrome. QIN Xue-yan，WANG Wei，DONG Zhi-ya，LU Wen-li，NI Ji-hong，XIAO Yuan，WANG De-fen. 2014, 29(8): 596-599.  DOI: 10.7504/ek2014080609 Abstract ( )   Abstracts： Objective To detect McCune-Albright syndrome （MAS） causing gene GNAS1 mutation hotspots by a new generation nucleic acid amplification “pyrophosphorolysis activated polymerization （PAP）” and to explore its value in the diagnosis of MAS. Methods Thirty-six children clinically verified as MAS were enrolled. They were subdivided into typical groups （with GnRH independent precocious puberty and polyostotic fibrous dysplasia，with or without skin cafē au lait spots） and atypical groups （with GnRH independent precocious puberty ,with or without skin cafē au lait spots） according to their phenotypes. In addition，a cohort of thirty-three healthy adults were enrolled as control group. Two techniques （real-time fluorescence PAP and common PCR） were respectively used to detect GNAS1 mutation hotspots and were compared. Results By the technique of real-time fluorescence PAP，two kinds of mutations were identified in nine of thirty-six MAS patients （4 with R201H and 5 with R201C，none with R201L），the positive findings being 9/36 （25%） while none by the common PCR. The mutation rates were significantly higher in the typical group as 63.64%（7 out of 11 cases）but 8%（2/25）in atypical group and all negative in control group. The technique of real-time fluorescence PAP revealed dominant priority in efficiency of molecular diagnosis of MAS compared with the common PCR. Conclusion GNAS1 gene mutation hotspots （R201H and R201C） are also present in children with MAS，and PAP technology can contribute to clinical molecular diagnosis of MAS.

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Clinical analysis of neonatal acute osteomyelitis in 13 cases. ZHAO Qi-si，WEI Hong，HUA Zi-yu，CHEN Yi-ji，YU Jia-lin. 2014, 29(8): 600-603.  DOI: 10.7504/ek2014080610 Abstract ( )   Abstract：Objective To expore the clinical features of acute osteomyelitis of neonate. Methods A retrospective study was done about clinical symptoms，radiologic features and treatments in 13 neonates who were diagnosed with osteomyelitis in Children’s Hospital Affliated to Chongqing University of Medical Sciences from 2004 to 2012. Results There were eleven male and two female infants；10 babies were related to bacteraemia and 3 cases were due to infection nearby.Limb bones were most commonly compromised. Six babies had joint involvement. Local swelling and disorder of limb’s activity were the most common clinical symptoms. Twelve patients got positve culture results from blood，pus or joint fluid samples. The most common pathogens were Staphylococcus aureus and Gram-negative bacteria. All of the babies accepted antibiotic treatment while 4 cases also underwent surgeries. All osteomyelitis patients had good outcomes. None had any sequelae among the 7 cases during the following 2 months to 2 years. Conclusion Neonatal osteomyelitis is not a rare disease with atypical clinical features. Radiologic and bacteriologic examination should be carried out once osteomyelitis is suspected. Appropriate antibiotics and necessary surgery are important to avoid further damage as well as long-term sequelae.

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Clinical characteristics of chronic cough detected by 24-hour ambulatory esophageal impedance-pH monitoring in children. HE Ping*， LIU Zhi-feng,LI Mei， JIN Yu，WANG Jue. 2014, 29(8): 604-607.  DOI: 10.7504/ek2014080611 Abstract ( )   Abstract：Objective To investigate the characteristics of gastroesophageal reflux disease （GERD） with chronic cough by 24-hour ambulatory esophageal impedance-pH monitoring in children. Methods From February 2012 to July 2013， 40 cases of inpatients and outpatients in Nanjing Children′s Hospital Affiliated to Nanjing Medical University， who were suspected with gastroesophageal reflux cough （RERC），were recruited；all these cases underwent 24-hour ambulatory esophageal impedance-pH monitoring. Results Among the 40 children with chronic cough， 23 patients were diagnosed with GERD refering to pH monitoring；34 children were diagnosed with GERD by 24-hour ambulatory esophageal impedance-pH monitoring. Esophageal acid reflux were significantly higher in the upright than supine position （P＜0.05），and the characteristics of GERD with chronic cough was mainly weak acidic reflux and acid reflux in the upright （P＜0.05）；the mixed reflux was the highest frequency in the upright （P＜0.05）. There was no difference between in the upright and supine position about the bolus clearance time；proximal reflux in the supine position was the main way in the total reflux （P＜0.05）. The total reflux and SI demonstrated positive correlation（r = 0.818， P＜0.05）. Conclusion Acid reflux， weak acid reflux and non-acid reflux can be detected by 24-hour ambulatory esophageal impedance-pH monitoring. The 24-hour ambulatory esophageal impedance-pH monitoring can make more accurate diagnosis of GERD in chronic cough children，and it may have a good prospect for clinical application.

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Critical neonatal scoring in assessing severity of transported neonates. ZHANG Li，ZHANG Xian-hong，HUANG Yuan-ying，HUA Zi-yu. 2014, 29(8): 608-611.  DOI: 10.7504/ek2014080612 Abstract ( )   Abstract：Objective To evaluate the performance of the Transport Risk Index of Physiologic Stability（TRIPS），Score for Neonatal Acute Physiology，Version Ⅱ（SNAP-Ⅱ） and Score for Neonatal Acute Physiology-Perinatal Extension， Version Ⅱ（SNAPPE-Ⅱ） for severity of transported neonates. Methods The study enrolled the neonates transported to Department of Neonatology， Children’s Hospital of Chongqing Medical University from Jan.1 to Dec. 31 of 2012. The clinical data were collected and analyzed retrospectively to compare the prediction accuracy of 7-day mortality，severe （≥Grade Ⅲ） intra-ventricular hemorrhage（IVH） and mechanical ventilation（MV）. Results Totally 475 neonates were enrolled.Hosmer-Lemeshow goodness-of-fit test showed good calibration of the TRIPS（P = 0.73），SNAP-Ⅱ（P = 0.30） and SNAPPE-Ⅱ（P = 0.27），and the TRIPS was the best. TRIPS，SNAP-Ⅱand SNAPPE-Ⅱ discriminated 7-day mortality with receiver operating characteristic area（AUC） of 0.80，0.82 and 0.84，respectively，whereas the predictive performance for severe IVH was 0.70， 0.69 and 0.83，and the performance for MV 0.72，0.72 and 0.74，respectively. There was no significant difference among these three scoring systems（P＞0.05）. With the cut-off value of 20 points， the sensibility of TRIPS predicting 7-day mortality and MV was 89.1% and 72.5%，respectively，whereas the specificity 57.7% and 66.8%. Conclusion Compared with SNAP-Ⅱ，SNAPPE-Ⅱ and NCIS，TRIPS is more suitable for quick severity evaluation due to its simplicity and feasibility，especially in accurately predicting 7-day mortality，severe IVH and MV of transported neonates.

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Early detection and prenatal diagnosis for children with Wilson degeneration（clinical analysis of 5 cases）. WANG Shu-lan， ZHAO Xing， JIANG Hong. 2014, 29(8): 612-615.  DOI: 10.7504/ek2014080613 Abstract ( )   Abstract： Objective To investigate the early clinical features of children's liver degeneration （hepatolenticular degeneration，HLD） and prenatal genetic types. Methods The misdiagnoses and prenatal genetic testing results of 5 cases of HLD in the First Hospital Affiliated to China Medical University from January 2002 to December 2013 were retrospectively analyzed，whose main clinical feature was liver enzymes elevated. Results   Five cases had elevated liver enzymes. Among them，two cases were found in the nursery physical examination，and the others' initial symptom was upper respiratory tract infection （1 case） and abdominal discomfort （2 cases）. The misdiagnosis time was two months to eighteen months. Moreover，a HLD child’s mother had a prenatal genetic test，and the result showed that the second child was a recessive gene carrier. However，the liver enzymes and ceruloplasmin（CP） were normal when he was born at term. Conclusion Unexplained liver enzyme abnormalities should be suspected in children with HLD. We should detect serum CP，urinary copper and corneal K-F ring timely for early diagnosis and timely treatment to improve the prognosis. The prenatal genetic test is an important factor to ensure the health of next generation.

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Clinical analysis and follow-up of children with hepatic glycogen storage disease. LIU Lu, SUN Mei. 2014, 29(8): 616-619.  DOI: 10.7504/ek2014080614 Abstract ( )   Abstract： Objective To summarize the clinical features of hepatic glycogen storage disease to improve the diagnosis and treatment and decrease the possibility of misdiagnosis. Methods Twelve cases of hepatic glycogen storage disease in Shengjing Hospital from May, 2007 to November, 2013 were analyzed retrospectively and followed up. Results Two cases were misdiagnosed in the 5 final diagnosed cases at first treatment. Liver dysfunction and growth retardation are the main symptoms, 2 cases with low blood glucose and 3 cases with jaundice；4 cases were screened positive result for epinephrine stimulating test. Two time of follow-up confirmed these cases still suffered from hepatomegaly and splenomegaly, liver dysfunction, growth retardation, etc. In suspected diagnosed group,only 1 case was screened positive result for epinephrine stimulating test. Conclusion The clinical manifestations of hepatic glycogen storage disease are multiple. Therefore, physicians should have sufficient recognition for this disease and give a right and prompt diagnosis based on family history, physical examinations and laboratory findings.

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A clinical study of thyroid dysfunction in children with juvenile systemic lupus erythematosus. ZHOU Yi-fang，LI Cai-feng，WANG Jiang，HAN Tong-xin，KUANG Wei-ying，DENG Jiang-hong，ZHANG Jun-mei，TAN Xiao-hua. 2014, 29(8): 620-623.  DOI: 10.7504/ek2014080615 Abstract ( )   Abstracts： Objective To investigate the morbidity and clinical manifestation of thyroid dysfunction in juvenile systemic lupus erythematosus（JSLE） individuals； to determine if there are correlations between thyroid dysfunction in JLSE individuals and SLE activity as well as autoantibodies. Methods Thyroid function was examed in 162 JSLE children who were identified between January 2010 to August 2013； TG-Ab， TM-Ab as well as thyroid B ultrasound were performed to the individuals with thyroid dysfunction. SLEDAI and ANAs titrate were compared between JSLE individuals with abnormal thyroid function and those with normal thyroid function. Results Totally 61 of 162 JSLE children were found with abnormal thyroid function， 4 of who were identified as Graves disease and 57 were only found subnormal T3. TG-Ab and TM-Ab was positive in some of the patients with abnormal thyroid function . There was a significant difference of SLEDAI between the children with normal thyroid function and those with abnormal thyroid function（P<0.05）. There was no significant difference of ANAs titrate between the two group patients. Conclusion The prevalence of subnormal thyroid function is found higher in JSLE children than in normal individuals， and most of them are identified with decreased T3 without significant clinical features， and the others are identified as Graves disease. It is also found that SLEDAI is higher in individuals with subnormal thyroid function compared to these with normal thyroid functions， and more attention and active therapy are required. It is very important to monitor TG-Ab，TM-Ab and thyroid function in JSLE children.