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Vol 2, No 4
Vol 2, No 4 November 2006 ISSN 1708-8569
Review articles
Original articles
Case reports
ICGCG 2006 abstracts
ICGCG 2006 report
Subject index 2005-2006
Review articles:
Current status of diagnosis and treatment of lysosomal storage diseases in China
  Yu Huang and Nanbert Zhong


Lysosomal storage diseases (LSDs) are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. LSDs have been models of molecular and cellular therapies for inherited metabolic diseases. Enzyme replacement therapy (ERT), bone marrow transplantation and substrate reduction therapy (SRT) have been shown to be effective for many of the LSDs. Early diagnosis and treatment have best chance for a positive outcome. We reviewed the case reports, diagnosis and treatment of LSDs in China.

Key words: lysosomal storage diseases; diagnosis; treatment; China

  [Abstract] [Full Text] [PDF]  
Molecular cytogenetic markers related to prognosis in hematological malignancies
  Zhong Chen

It has become increasingly evident that cancers are "genetic diseases" resulting from an accumulation of inherited and environmentally induced changes or mutations in the genome, i.e., the modification, activation, or inactivation of various genes, including oncogenes, tumor-suppressor genes, and genes related to cell death. Cancer genetics has, therefore, become a burgeoning area of both genetic researches and clinical application in human cancer.

This paper is intended to update researchers on the rapid advances that have been made in the understanding of prognostically significant molecular cytogenetic markers in hematological malignancies. Examples include observations of p53, RB1, and ATM gene deletions as well as 12q13 amplifications in up to 80% of patients with chronic lymphocytic leukemia (CLL) in association with significantly different prognostic groups. Greater than 80% of patients with multiple myeloma have been observed to have chromosome 13q deletions; RB1, D13S319, and p53 deletions have been reported to serve as independent adverse prognostic parameters. In chronic myelogenous leukemia (CML), large deletions (ASS and N43E1 being the two most commonly deleted loci) at the t(9;22) breakpoints have been reported to be associated with reduced time to accelerated phase; and in adult acute myelogenous leukemia (AML),  molecular cytogenetic analysis as well as CEBPA, FLT3, and RAS studies predict  the outcome of  therapy.

Key words: molecular cytogenetics; chromosomal abnormalities; hematological malignancies

  [Abstract] [Full Text] [PDF]  
Neuroimmunology of autism
  You-You Hu and Nanbert Zhong

Autism is a complex neurodevelopment disorder characterized by impairment in social skills, verbal communication, behavior and cognitive function. Abnormalities in language development, mental retardation and epilepsy are also found frequently in patients with autism. The role of the immune system in autism is unconfirmed. But studies revealed the immune effect in the nervous system, indicating a novel approach for the study of this disease. In this review, we specifically discuss the neuroimmunologic aspects of the disease at the cellular and molecular levels.

Key words: autism; neuroimmunology

  [Abstract] [Full Text] [PDF]  
Original articles:
Mechanical ventilation in clinical management of meconium aspiration syndrome
  Zhi-Zhi Xu, Xiao-Yu Zhou, Xiao-Ming Ben, Wei-Hua Zhao, Cong-Wei Wang, Xiao-Yong Jiang and Qin Qin

Background: Meconium aspiration syndrome (MAS) is frequently seen in term-gestation and post mature infants with severe asphyxia. Mechanical ventilation is currently used in the severe respiratory failure. A retrospective study was undertaken to explore the management of mechanical ventilation so as to reduce the complications and improve the cure rate in the treatment of newborn infants with MAS.

Methods: Sixty-eight patients were divided into groups A, B and C according to the time of admission. Group A, 17 infants, were treated from 1985 to 1989; group B, 25 infants from 1990 to 1995; and group C, 26 infants from 1996 to 2000 by the modified method. In these 3 groups, little difference was seen in the clinical data including sex, gestation, birth weight, and history of abnormal labor. In group C, 26 infants were also complicated by brain injury, 14 by heart failure, 11 by shock, 12 by renal failure, 3 by gastrointestinal dysfunction, and 3 by cardiopulmonary arrest.

Results: The cure rates in groups A, B and C were 23.5%, 60% and 96.2% respectively (H=20.8136, P <0.05, P<0.01). The prognosis rates in the 3 groups were 76.5%, 28% and 3.8%, respectively. The difference between the cure rates and poor prognosis rates among the 3 groups was statistically significant (H=25.55308, ²=5.6210, P<0.01, P<0.05). In the three groups, 64.7%, 20% and 7.7% of infants developed pulmonary barotrauma, respectively; 76.5%, 72% and 19.2% infants had acid-base imbalance, and 50%, 25% and 12.5% infants had aggravation of pulmonary infection, respectively.

Conclusions: Strict sterilization and isolation are of utmost importance in mechanical ventilation for the treatment of MAS. The high cure rate of MAS is essential to the prevention of heart, brain, kidney, circulation and gastrointestinal dysfunction in newborn infants. Besides, the improvement of respiratory management as well as the prevention of complications is mostly dependent on the application of mechanical ventilator. According to the conditions of patients and the results of gas analysis, the ventilation parameter was adjusted timely. Improvement of cure rate, prognosis rate, and complications must be associated with the use of mechanical ventilator.

Key words: mechanical ventilation; newborn infants; meconium aspiration syndrome; complication management

  [Abstract] [Full Text] [PDF]  
Measurement of urinary S100B protein levels and lactate/creatinine ratio in early detection of neonatal hypoxic-ischemic encephalopathy
  Li Liu, Hong-Yan Zhou, Li He, Jian-Wen Song, Wen-Xin Nie and Zu-You Su

Background: Hypoxic-ischemic encephalopathy (HIE), an important disease in the asphyxiated newborn infants, usually leads to neonatal death and neurological sequelae. There have been no reliable and convenient methods for early identification of HIE. This study was undertaken to investigate the value of urinary S100B protein and lactate/creatinine (L/C) ratio in early diagnosis of neonatal hypoxic-ischemic encephalopathy.

Methods: Urinary S100B protein levels and L/C ratio were detected in 58 full-term newborns with HIE on the first, second and third day after birth, and the degree of HIE was assessed within the first seven days after birth. Twenty-five normal full-term neonates were enrolled as controls.

Results: The urinary S100B protein levels within the first three days and the L/C ratio on the first day after birth were significantly higher in newborns with HIE than in the controls (P<0.01). There was a positive correlation between urinary S100B protein level on the third day after birth and the L/C ratio on the first day after birth. The two indexes were positively correlated with the clinical grades of HIE (P<0.01). When the S100B protein level was 0.47 µg/L and the urinary L/C ratio was 0.55, their sensitivity and specificity in detecting urinary S100B protein alone on the third day after the birth was 90.4% and 91.9%, respectively. On the first day after birth, the L/C ratio showed the highest sensitivity (91.5%) and specificity (90.3%) in predicting HIE. Detecting the S100B protein level on the third day after birth and the ratio of L/C at the same time on the first day after birth significantly improved the accuracy in HIE diagnosis, and the sensitivity and specificity under the combined use of the two methods were 98.8% and 97.4%, respectively, which were higher than those from the individual use of the two methods.

Conclusions: Based on the clinical manifestations of the asphyxiated full-term newborns, monitoring urinary S100B protein levels and L/C ratio in the first three days after birth is of practical value in improving the accuracy of early diagnosis and clinical grading of HIE.

World J Pediatr 2006;4:270-275
  [Abstract] [Full Text] [PDF]  
Prevention, diagnosis and therapy of transplant nephropathy in children
  Lars Pape, Offner Gisela and Jochen HH Ehrich

Background: In recent years transplant nephropathy has become the predominant cause of graft failure in children. Therefore, the new methods of prevention, diagnosis and therapy need to be critically evaluated. 

Methods: The methods include evaluation of long term graft function by Doppler ultrasonography, histological quantification of tubulointerstitial fibrosis, pharmocokinetic monitoring of immunosuppression, allocation of donor kidneys, and use of new immunosuppressive regimen.

Results: In a matched-pairs-analysis of the function of kidneys taken from adult donors was inferior to that of pediatric donor kidneys, thus showing the superiority of the "young for young" concept of organ donation. The quantification of fibrosis with PicroSiriusRed staining in renal biopsies correlated positively with the progression of graft failure revealing a new predictor of future graft function. Renal resistance indices >0.8 were identified as risk factors for loss of graft function. The advantages of C2-cyclosporin A level monitoring in comparison to conventional C0-monitoring was shown and C2 target levels were given. Basiliximab, an IL2-receptor-antagonist, had a positive effect on prevention of acute rejection episodes.

Conclusions: Long-term kidney transplant function and survival can be improved by a combination of well directed prophylaxis, early diagnosis and an individually tailored immunosuppressive therapy.

Key words: transplant nephropathy; kidney transplantation; chidren; prevention; therapy

  [Abstract] [Full Text] [PDF]  
Molecular screening of FMR1 mutation among autism patients in China
  Xiao-Zhu Wang, Michelle Hou, Dai Zhang and Nanbert Zhong

Background: Fragile X syndrome (FXS) is the most common inherited form of mental retardation, affecting approximately 1 in 1250 males and 1 in 2500 females, with estimated premutation carriers of 1/600 in males and 1/300 in females. It is resulted from an unstable expansion of triplet CGG repeats at promoter region of the FMR1 gene, which consequently silences FMR1 gene expression. Our earlier study has determined that FXS accounts for 3.2% of the Chinese mental retarded population. Recently, FMR1 mutation has been found in autism patients. In this report, we present a pilot study of molecular screening of FMR1 mutation in a subset of Chinese autism patients.

Methods: A total of 235 DNA samples, including 185 samples from autism patients (174 males and 11 females) and 50 samples from mental retardation (MR) patients (36 males and 14 females), which had been banked earlier, were included. PCR based approach was employed for analyzing CGG repeat size. PCR products were detected on 6% denaturated PAGE electrophoresis and detected with silver staining.

Results: Among 235 samples screened, 226 (49 MR and 177 autism) samples showed normal patterns. No normal pattern could be detected among the remaining 9 samples including 1 MR and 8 autism cases.

Conclusions: We have developed a simple, easy, rapid and economical PCR-based molecular screening approach for detecting FMR1 CGG repeats. Using this approach, we have detected 9 subjects from our previously banked MR and autism DNA samples. We suggest the use of this approach in clinical practice for screening FXS high-risk population among pregnant women and MR children whose genetic etiology is yet unknown.

Key words: fragile X syndrome; FMR1; autism; Chinese; molecular screening

World J Pediatr 2006;4:285-287

  [Abstract] [Full Text] [PDF]  
Understanding the social meaning of the eyes: is Williams syndrome so different from autism?
  Erifylli Tsirempolou, Kate Lawrence, Kang Lee, Sandra Ewing and Annette Karmiloff-Smith


Background: Understanding the social meaning of the eyes is crucial to normal development. We studied this ability in a neuro-developmental genetic disorder, Williams syndrome (WS) that, among other characteristics, has a distinctive cognitive profile with reported proficiency in language, face processing and social skills, but seriously impaired visuo-spatial and number skills.

Methods: Based on our earlier challenges to claim about intact face processing and good social cognition skills in WS, as well as from our work on early social cognition in WS infants, we ran two simple experiments, both with control conditions, to test the hypothesis that the ability to process eye gaze direction and facial emotions would be impaired in WS adults, compared to control groups of typically developing 4- and 6-year-old children and normal adults.

Results: We found that adolescents and adults with WS were seriously delayed in the detection of eye gaze direction as well as being specifically impaired at interpreting "sadness" and "anger", even compared to 4-year-old controls.

Conclusions: We speculate that the WS problems lie not in their difficulty to process eyes per se, but in their problems with interpreting the social meaning of the eyes, implicating dysfunction of the amygdala circuit. Finally, our results lead us to question a prevailing view that WS and autism are situated at opposite ends of the continuum with respect to social cognition.

Key words: Williams syndrome; autism; face/eye-emotion processing

  [Abstract] [Full Text] [PDF]  
Noninvasive ventilation via bilevel positive airway pressure support in pediatric patients after cardiac surgery
  Cai-Yun Zhang, Lin-Hua Tan, Shan-Shan Shi, Xiao-Jun He, Lei Hu,

Background: Noninvasive bilevel positive airway pressure (BiPAP) support ventilation applied by nasal mask in children with impending respiratory failure enhances oxygenation/ventilation, decreases the work of breathing, and may obviate the need for an artificial airway. This study was to provide a prospective evaluation of clinical experience in this special population, suggesting a wider role for this less intrusive ventilatory support modality.

Methods: Twenty-five patients (3 months to 11 years, mean 2.3 years) who underwent corrective cardiac surgery and developed respiratory insufficiency after extubation were enrolled in the study. All patients required airway support or oxygenation/ventilatory support and were firstly treated with noninvasive BiPAP ventilation before re-intubation. The changes of clinical symptoms and arterial blood gas were measured.

Results: The 25 patients with 30 episodes of respiratory insufficiency requiring airway support or oxygenation/ventilatory support were treated with BiPAP ventilation with a mean duration of 1.96 days (range, 0.03 to 12 days). No major complications were observed. Twenty-five episodes (83.3%) benefited from BiPAP and avoided re-intubation. One hour after institution of BiPAP, the patients showed an acute improvement of oxygenation. pH increased from 7.370.02 to 7.410.01, SaO2 increased from 93.81.0% to 97.70.4%, PaO2/FiO2 increased from 189.925.0 to 253.621.2 mmHg, and A-aDO2 decreased from 241.818.7 to 182.116.5 mmHg (all P<0.05). Four hours after BiPAP, PaCO2 significantly decreased from 44.02.1 to 38.90.8 mmHg (P<0.05). Meanwhile, heart rate decreased from 1574 to 1394 beats/minute, respiratory rate decreased from 462 to 372 breaths/minute, rate-pressure product decreased from 17 230685 to 14 046423 mmHg  beats/minute (all P<0.05). Five episodes in 4 patients were unable to stabilize progression of respiratory failure and an artificial airway was subsequently placed. All patients survived with a mean mechanical ventilation duration of 3.4 days and an ICU stay of 10.6 days.

Conclusions: Noninvasive nasal mask BiPAP can be safely and effectively used in children after cardiac surgery to improve oxygenation/ventilation, decrease the work of breathing. It may be particularly useful in patients whose underlying condition warrants avoidance of re-intubation.

Key words: noninvasive positive pressure ventilation; respiratory failure; children; cardiac surgery

  [Abstract] [Full Text] [PDF]  
Case reports:
A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion
  Chulaluck Techakittiroj, Hans Andersson, Kelly Jackson, Chris Dvorak and Marilyn Li
  Chromosome 22q13 deletion syndrome (MIM 606232) is associated with global developmental delay, generalized hypotonia, absent or severely delayed speech, normal to accelerated growth, and specific facial features. We report a female infant with persistent hypotonia, transitional hearing loss, developmental delay, specific facial features, and a terminal deletion of chromosome 22q13.1. Parental chromosomal studies demonstrated that the deletion was de novo. Most clinical features of the patient were similar to those of the previously reported patients with 22q13 deletion, but some of them such as hypoplastic toenails were unique. The phenotype variation in patients with 22q13 deletion could be attributed to different deletions that vary in size and involve overlapping but diverse genomic segments.

Key words: 22q13 deletion; developmental delay; hypotonia; hearing loss; FISH

  [Abstract] [Full Text] [PDF]  
Repair of congenital pulmonary vein stenosis
  Ying-Long Liu, Xiang-Dong Shen and Jian-Rong Li
  Congenital pulmonary vein stenosis (CPVS) is a rare fatal congenital cardiovascular defect and its operative mortality is very high. A 6-year-old boy presented with bilateral congenital pulmonary vein stenosis complicated by severe pulmonary hypertension and mitral in-sufficiency. A successful angioplasty in combination with mitral valvuloplasty was performed for pulmonary veins with living autologous atrial tissue and sutureless in situ pericardium.

Key words: pulmonary vein stenosis; congenital heart disease; surgery

  [Abstract] [Full Text] [PDF]  
ICGCG 2006 abstracts:
ICGCG 2006 abstracts
   The following are selected abstracts presented at the International Congress of Global Chinese Geneticists 2006 (ICGCG 2006). The congress, held in Beijing, August 2-4, 2006, was co-orgnized by Peking University, the Chinese Society of Medical Genetics, the Taiwan Human Genetics Society, the Hong Kong Society of Medical Genetics, the National Genome Institute of Singapore, Fudan University, Zhejiang University, and Wenzhou Medical College.
  [Abstract] [Full Text] [PDF]  
ICGCG 2006 report:
International Congress of Global Chinese Geneticists 2006
  [Abstract] [Full Text] [PDF]  
Subject index 2005-2006:
Subject index WJP 2005-2006
  [Abstract] [Full Text] [PDF]  
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