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06 June 2016, Volume 31 Issue 6 Previous Issue    Next Issue

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Interpretation of American Academy of Pediatrics Guidelines for Neonatal Resuscitation 2015 SHI Yong-yan，FU Jian-hua 2016, 31(6): 401-404.  DOI: 10.7504/ek2016060601 Abstract ( )   Asphyxia is a major cause of neonatal death and serious sequelae of nervous system. Timely evaluation and proper strategies are crucial to successful neonatal resuscitation. In October 2015，the neonatal resuscitation group of the American Academy of Pediatrics published updated guidelines for neonatal resuscitation. The guideline updated information on fast evaluation items，delayed ligation of the umbilical cord，intratracheal suction for neonates with meconium-contaminated amniotic fluid，oxygen for resuscitation of preterm infants and positive pressures ventilation. Meanwhile the guideline suggested that resuscitation training should be more frequent than the current interval of two years.

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Paying attention to the diagnosis and management of congenital adrenal insufficiency DU Min-lian 2016, 31(6): 405-409.  DOI: 10.7504/ek2016060602 Abstract ( )   Congenital adrenal insufficiency （CAI） comprises a fairly large group of disorders characterized by low production of glucocorticoids with or without low production of mineralocorticoids. Diagnosis of CAI is often delayed due to its unspecific clinical symptoms，and missed diagnosis of CAI or inadequate treatment thereof may be fatal. Recently，new molecular genetic methods have revealed novel genes underlying CAI and have enhanced the knowledge of those disorders. They have the valid managements. Rational substitute treatment may make the patients avoid critical risk and get normal growth and normal live quality. Therefore，the pathogenetic mechanism should be further investigated. Pediatricians should master the keypoints of clinical diagnosis and treatment and try to avoid the risk due to misdiagnosis.

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Present situation of the daignosis and treatment of congenital adrenal hyperplasia HAN Lian-shu 2016, 31(6): 410-413.  DOI: 10.7504/ek2016060603 Abstract ( )   Congenital adrenal hyperplasia is a group autosomal recessive inheritance  diseases due to adrenal cortical hormone synthesis obstacle. The patients mainly have the symptoms of adrenal cortical function loss. Part of them associated with external genital dysplasia. Gene detection is a reliable method of diagnosis. Treatment for the disease is mainly hormone replacement therapy. The external genital abnormalities of female patients need plastic surgery.

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Clinical diagnosis of pediatric primary adrenal insufficiency LI Pin 2016, 31(6): 414-418.  DOI: 10.7504/ek2016060604 Abstract ( )   Adrenal insufficiency（AI） is an uncommon clinical disorder that arises from an inadequate basal or stress level of plasma cortisol. The clinical findings of primary adrenal insufficiency（PAI） are associated with deficient synthesis or release of glucocorticoids and frequent deficiency of mineralocorticoids. The presentation of adrenal insufficiency may be insidious and difficult to recognize，so it is important to diagnose adrenal insufficiency properly，for an unrecognized or untreated disorder sometimes might be fatal. Once suspected，the exact underlying diagnosis needs to be confirmed by a stepwise diagnostic approach，with an open eye for other differential diagnostic possibilities. The definite diagnosis should be supported by laboratory evaluation on the function of adrenocortical and HPA axis.

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Present situation of the diagnosis and treatment of nonclassic congenital adrenal hyperplasia LIANG Yan，LUO Xiao-ping 2016, 31(6): 418-422.  DOI: 10.7504/ek2016060605 Abstract ( )   Nonclassical congenital adrenal hyperplasia（NCCAH） is one of the most common autosomal recessive disorders，mainly presented with excessive adrogen，such as pubarche，hirsutism，acne，etc. However，the diagnostic approach to NCCAH is difficult because of variable clinical manifestations with different age and gender. The golden standard for diagnosis is still ACTH stimulation test. Genotyping，as an adjunctive molecular test，is recommended if available. The treatment of NCCAH should be individualized. Children with NCCAH，who have inappropriately early onset or rapid progression of pubarche or bone age，should be treated with low dose glucocorticoids to suppress adrenal hormones and prevent rapid advancement of bone.

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Newborn screening for congenital adrenal hyperplasia YE Jun 2016, 31(6): 422-425.  DOI: 10.7504/ek2016060606 Abstract ( )   Congenital adrenal hyperplasia（CAH）is mainly caused by 21-hydroxylase deficiency（21-OHD）. Nationwide neonatal screening for CAH caused by 21-OHD in China is based on measurement of 17-hydroxyprogesterone （17-OHP） levels from heel-stick blood samples on filter paper. The situation and methods of neonatal screening，confirmed diagnosis and therapeutic rule for CAH in China and other countries are described for the standardization of screening.

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Management of adrenal crisis GONG Chun-xiu 2016, 31(6): 425-428.  DOI: 10.7504/ek2016060607 Abstract ( )   Adrenal crisis（AC） is the term of a syndrome which has been used to describe a group of critical symptoms in rather unclear words for decades. It has brought a poor concordance on the data of mortality，morbidity and treatment among researches，and it has also hindered researchers to reach consensus till 2015，when the adrenal crisis criteria was proposed by a British physician. While it is still not perfect，it does give physicians a reference in clinical practice. The author considers it a meaningful step forward. Adrenal insufficiency could be turned into adrenal crisis with any stress. Being aware of the threat of AC and educating people of its symptoms and treatment are essential for both the patients and their care givers. CAH is the most common disease for AC in pediatrics and the therapy should be further researched because the morbidity of AC has increased since the regime of short-acting tablets and small doses. Perfect evidence is still absent at present.

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Diagnosis and management of X-linked adrenoleukodystrophy XIN Ying 2016, 31(6): 429-433.  DOI: 10.7504/ek2016060608 Abstract ( )   X-linked adrenoleukodystrophy（X-ALD） is an inherited neurodegenerative disorder，involving mainly the white matter and axons of the central nervous system，the adrenal cortex and the testis. X-ALD is caused by a defect in the gene ABCD1 that maps to Xq 28 locus. The primary biochemical disorder is the accumulation of saturated very long chain fatty acids（VLCFA） secondary to peroxisomal dysfunction. At least six distinct phenotypes have been described，and the most severe type is childhood cerebral adrenoleukodystrophy. When suspected，the diagnosis is established biochemically，and prenatal testing is possible in affected families. By far there is still lack of the effective treatment methods. The administration of a mixture of glyceryl trioleate and glyceryl trierucate，also referred to as Lorenzo’s Oil，has been shown to prevent disease progression in asymptomatic patients with cerebral involvement of X-ALD. Allogeneic hematopoietic stem cell transplantation（HSCT） is the treatment of choice for individuals with early stages of the cerebral form of the disease. Once adrenal insufficiency is present，the hormonal replacement therapy is identical to that of autoimmune Addison’s disease.

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Diagnosis and treatment of testicular adrenal rest tumor LI Yan-hong 2016, 31(6): 434-437.  DOI: 10.7504/ek2016060609 Abstract ( )   Testicular adrenal rest tumor（TART） is benign tumour derived from ectopic adrenal cells that have migrated to the gonad in early fetal life. The development of TART is one of the most frequently detected complications and is a risk factor for infertility and gonadal dysfunction in male congenital adrenal hyperplasia（CAH） patients. Early diagnosis and treatment can prevent the irreversible damage of testis. The etiology，clinical manifestations and classification，diagnosis and treatment of TART are essential to be studied.

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Near-final height of 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: A single-center study of 25 years’ follow-up LIN Juan*，MA Hua-mei，SU Zhe，LI Yan-hong，CHEN Hong-shan，CHEN Qiu-li，ZHANG Jun，GUO Song，DU Min-lian 2016, 31(6): 438-443.  DOI: 10.7504/ek2016060610 Abstract ( )   Objective    To identify variables that might interfere with near final height（NFH） of patients with congenital adrenal hyperplasia（CAH） due to classic 21-hydroxylase deficiency（21-OHD）. Methods    Eight-two patients with CAH due to classic 21-OHD achieved the NFH were followed up from March 1989 to May 2015 in Child Growth Center of the First Affiliated Hospital of SUN Yat-sen University. The NFH were compared with the standard height for the population and the target height（TH），and associated factors were analyzed. Results    Eighty-two patients  were followed up for approximately 10.6 yrs（0.5 to 25.5 yrs）. NFH SDS（-1.9±1.1） was significantly lower than the normal population（P＜0.001）. The treated group was significantly taller than the untreated group（P＝0.01）；early diagnosis group appeared to be taller than those with late diagnosis（P＝0.019）. A better height outcome was observed in patients with advantage in TH，good compliance，and low HC dose by multivariate Cox regression analysis in 62 treatment patients. NFH and HC dose were negatively correlated（r＝-0.23，P＝0.078） in treated group. For uncontrolled patients，patients with original HC does+letrozole had a better improvement  than those receiving HC enhanced dose（P＝0.064）. NFH SDS of patients with central precocious puberty who received GnRHa+letrozole was significantly higher than no-intervention group（P＜0.005）. Conclusion    Whether receiving treatment or not NFH of the classic 21-OHD children is below expectation，as compared with both the reference population and the target height，and is even lower in non-treatment group. Early diagnosis，early treatment，good compliance and lower dose of HC have a major impact on 21-OHD NFH. Associated adjuvant therapy of inhibiting bone maturation can somewhat improve NFH.

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Cause analysis and gene diagnosis of infant salt losing syndrome in 4 cases and study of the application value DING Yu*，LI Juan，SHEN Yong-nian，WANG Jian，SHI Dun-yi，HUANG Xiao-dong 2016, 31(6): 444-449.  DOI: 10.7504/ek2016060611 Abstract ( )   Objective    To analyze the causes of infant salt losing syndrome and the application value of gene detection in the diagnosis of the cause. Methods    Four cases of salt losing syndrome with low sodium and high potassium admitted from 2010 to 2014 in Shanghai Children’s Medical Center， Affiliated to Shanghai Jiaotong University School of Medicine were included and clinical data，therapy and follow-up were collected. DNA of children and their parents in the four cases were detected. Results    There were different degrees of salt losing situation in the four cases. It found that the patients had different gene mutations through genetic testing：mutations of splicing site［c.293-13A＞G（heterozygous）］ and small duplication［c.923dupT， p.Leu308Phefs*6（heterozygous）］ were detected in CYP21A2， mutation of small deletion［c.1334delC， p.Ala445Valfs*17（hemizygous）］ was detected in DAX1， mutation of splicing site［c.del1311G， p.Arg438Glyfs*43（heterozygous）］ and point mutation ［c.1439+1G＞C（heterozygous）］ were detected in SCNN1A and mutation of splicing site［c.240-1G＞A（heterozygous）］ and  nonsense mutation［c.1009C＞T， p.Gln337*（heterozygous）］ were detected in CYP11B2， respectively. The four cases were diagnosed as four different diseases： congenital adrenal hyperplasia （21-hydroxylase deficiency）， congenital adrenal hypoplasia， pseudohypoaldosteronism type I and hypoaldosteronism. Conclusion    The cause of infant salt losing syndrome is complex and is misdiagnosed easily. Gene analysis may be helpful for early diagnosis and treatment.

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A clinical study on the detection of serum anti-Mullerian hormone and inhibin B in 1400 cases of healthy children aged 0 to 5 years ＷANG Fei*，ZHANG Hong，LIU Qing-xu，YANG Yu，LIU Ge-li，LIU Xia，CHENG Xin-ran，LI Pin 2016, 31(6): 450-454.  DOI: 10.7504/ek2016060612 Abstract ( )   Objective    To detect the concentrations of serum anti-Mullerian hormone（AMH） and inhibin B（INHB） in healthy children aged from 0 to 5 years，in order to help provide the basis for early clinical assessment of gonadal function. Methods    A total of 1400 children were included. The children included 700 healthy boys and 700 girls aged from at birth to 5 years old from 5 Hospitals. They were divided into seven groups：0-1 month（m），1-6 m，＞6 m-1 year（yr），＞1-2 yr，＞2-3 yr，＞3-4 yr and ＞4-5 yr，100 children in each group. The concentrations of serum AMH and inhibin B were detected by ELISA. Results    In 0-5 years old healthy boys， serum AMH concentrations reached the peak of 210.70（55.37-439.45） μg/L from 1 to 6 month，and maintained the relatively stable level of 147.1（17.69-321.88） μg/L during 1-5 years of age，while in 1 to 6 month healthy girls，it reached a small peak of 1.77（0.06-7.68） μg/L and tended to be stable at ［1.98（0.19-7.31） μg/L］ during 2-5 years of age. Serum inhibin B concentrations were 274.23（0.00-602.34） ng/L，with the highest during 1-6 months of birth in boys，which appeared small peak of 36.83（0.00-226.32） ng/L in girls. Conclusion    It is the first large sample research of serum AMH and inhibinB concentration range in healthy children aged 0 to 5，and the peak concentration appears at one to six months after birth.

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Clinical and molecular genetic studies on mixed gonadal dysgenesis and ambiguous genitalia CHEN Li-fen，CHEN Le，DONG Zhi-ya，WANG Wei，LIN Lin，LU Wen-li，XIAO Yuan，NI JI-hong，WANG De-fen 2016, 31(6): 455-459.  DOI: 10.7504/ek2016060613 Abstract ( )   Objective    To analyze clinical characteristics of children with mixed gonadal dysgenesis and ambiguous genitalia and its relationship with the molecular etiology. Methods    A total of 5 children diagnosed with mixed gonadal dysgenesis（MGD） accompanied by ambiguous genitalia between January 2002 and December 2014 in Ruijin Hospital of Shanghai Jiaotong University School of Medicine were enrolled. The detailed medical history，physical examination and laboratory tests had been performed for all children. Genomic DNA from peripheral blood leukocytes was obtained for detecting the existence of Y chromosome microdeletions and copy number variations of genes related to sex development（WNT4，NR5A1，SOX9，Cxorf21） by multiplex ligation-dependent probe amplification（MLPA）. Results    5 patients have diverse clinical phenotypes. 3 of them were raised male while the other 2 were raised female. There were different segments and amounts of Y chromosome microdeletions in 4 MGD patients. No copy number variations of WNT4，NR5A1，SOX9 and Cxorf21 were found. Conclusion    Y chromosome microdeletions show high incidence in the MGD children and it may be one of the molecular etiology of MGD extensive clinical spectrum while there seems no clear association between clinical phenotype and peripheral blood chromosome karyotype.

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Efficacy of bacterial lysates in the treatment of recurrent respiratory infections with asthma in children under 5 years old GU Shen-feng，WU Li-mei，PAN Chun-yang 2016, 31(6): 460-462.  DOI: 10.7504/ek2016060614 Abstract ( )   Objective    To evaluate the efficacy and safety of bacterial lysates in the treatment of recurrent respiratory infections with asthma in children less than or equal to 5 years old. Methods    A total of 40 children with recurrent respiratory tract infections and asthma admitted between January 2013 and December 2014 in Jing’an District Centre Hospital of Shanghai were randomly divided into the treatment group（n=20） with bacterial lysates，and the control group（n=20） with placeto. The clinical efficacy was observed and secretory immunoglobulin A（sIgA） in the saliva samples and percentages of eosinophils in peripheral blood were detected at the indicated time point after treatment of 0， 3， 6 and 12 months. Results    The clinical symptom of asthma and the incidence of infection were significantly less in treatment group than those in control group. The level of sIgA was obviously increased in the saliva samples of treatment group and had negative correlation with percentage of eosinophils in peripheral blood. There was not any adverse event. Conclusion    Bacterial lysates can be an effective adjuvant therapy for recurrent respiratory infections with asthma in children less than or equal to 5 years old by increasing the immunity， decreasing respiratory tract symptom and reducing the incidence of asthma.

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Risk factors of neonatal pneumothorax: An analysis of 67 cases LIU Ming-hua，SUN Bin，FENG Xing 2016, 31(6): 463-465.  DOI: 10.7504/ek2016060615 Abstract ( )   Objective    To explore the main risk factors of neonatal pneumothoraxand to provide a basis for early clinical intervention and treatment. Methods    A retrospective study was conducted at the neonatal intensive care unit（NICU） of the Children’s Hospital of Soochow University in 67 infants  with  neonatal pneumothorax and 60 infants without neonatal pneumothorax  from January 2012 to December 2014 .The data was compared by univariate and multivariate Logistic regression analysis. Results    Univariate analysis showed that gestational age，pneumonia，neonatal respiratory distress syndrome（NRDS），cesarean section，resuscitation intrapartum，continuous positive airway pressure（CPAP），meconium aspiration syndrome（MAS），wet lung（TTN） and mechanical ventilation were the risk  factors for neonatal pneumothorax（P＜0.05）. Logistic regression analysis showed that gestational age，NRDS，CPAP，mechanical ventilation，cesarean section，MAS，TTN and pneumonia were the main  risk factors for neonatal pneumothorax（OR values were 6.442，9.933，8.690，27.873，5.051，38.405，11.692 and 9.493，P＜0.05）. Conclusion    The main risk factors for neonatal pneumothorax are gestational age，NRDS，CPAP，mechanical ventilation，cesarean section， MAS，TTN and pneumonia.

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High frequency oscillatory ventilation in the treatment of neonatal respiratory distress syndrome：An efficacy and safety observation of 30 cases LIU Ying-qing 2016, 31(6): 466-468.  DOI: 10.7504/ek2016060616 Abstract ( )

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Genetic etiology of primary adrenal insufficiency WANG Ka-na，WANG Chun-lin 2016, 31(6): 469-471.  DOI: 10.7504/ek2016060617 Abstract ( )

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Progress in the medication for adrenal insufficiency ZHENG Rong-xiu，LIU Ge-li 2016, 31(6): 472-476.  DOI: 10.7504/ek2016060618 Abstract ( )

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Advances in primary adrenal insufficiency molecular pathogenesis YANG Lu-lu，DONG Zhi-ya 2016, 31(6): 477-480.  DOI: 10.7504/ek2016060619 Abstract ( )