Updates on hypomelanosis of Ito / 国际儿科学杂志

Hypomelanosis of Ito is a multisystem neurocutaneous syndrome. The pathogenesis hasn′t been clear and typical cutaneous lesions are associated with variable extracutaneous abnormalities involved the central nervous system and musculoskeletal system. Its clinical manifestations include abnormal skin biopsy and chromosomal patterns and brain iconography. The treatments have to be adapted to the individual and prognosis depends on the severity of clinical manifestations and complications.

Neurobiological Characteristics of Human Histo-amniotic Mesenchymal and its Effect to Treat Parkinson's Disease Modle Mice / 中国康复理论与实践

@#ObjectiveTo evaluate the neurobiological characteristics of human histio-amniotic mesenchymal (hAMCs) and effect of hAMCs transplantation into the brain to treat Parkinson's disease(PD) modle mice.MethodsThe expressions of mesenchymal stem cells, neural stem cells, dopaminergic neurons and markers related to neurogenesis such as Vimentin, STRO-1, nestin, CD133, β-tubulin, TH, DAT, Ngn2 and mash-1 in hAMCs were evaluated through immunocytochemical stain; and the mRNA transcriptions of neural stem cell markers, Vimentin and nestin in hAMCs were detected by RT-PCR. The PD model was induced by MPTP(i.p.) in C57BL/6 mice transplanted with hAMCs into the right striatum. The therapeutical effect of hAMCs on PD mice was evaluated by spontaneous movement, rotating bar test and the immunohistochemistry of anti-human chondrosome and TH antibodies in striatum.ResultshAMCs induced by nerve cells culture medium, expressed mesenchymal stem cells, neural stem cells, dopaminergic neurons and other specific markers related to neurogenesis mentioned above. The frequency of spontaneous movement in PD mice was significantly increased(P<0-05), and the time of rotating bar was obviously prolonged(P<0-05) after transplantation with hAMCs.ConclusionhAMCs possess the characteristics of nerve cells after cultured in vitro and can significantly recover the damage of motor function induced by MPTP after transplantation into striatum in PD model mice.

Clinical analysis of incomplete Kawasaki disease / 中国医师进修杂志

Objective To investigate the clinical features of incomplete Kawasaki disease (IKD).Methods The data of 46 Kawasaki disease (KD) patients including 14 IKD patients (IKD group)and 32 classical Kawasaki disease (CKD) patients (CKD group) was analyzed retrospectively,and compared the clinical manifestation,laboratory examination result,the incidence of coronary artery lesion (CAL) and the response to intravenous immunoglobulin (IVIG) of two groups.Results There was no significant difference in gender and age between IKD group and CKD group (P> 0.05 ).In IKD group,the fever time was longer than that in CKD group [( 11.43 ± 9.12) d vs (7.12 ± 2.83 ) d, P < 0.05], but the frequency of conjunctival congestion, lymphadenectasis of neck, indurative edema of palms and soles, changes of lips and oral cavity were less than these in CKD group [57.14%(8/14) vs 93.75%(30/32),28.57%(4/14) vs 59.38%(19/32), 35.71%(5/14) vs 78.12%(25/32),42.86%(6/14) vs 75.00%(24/32)](P< 0.01 or < 0.05).There was no difference in laboratory examination result and incidence of CAL between two groups, but the incidence of IVIG nonresponse in IKD group was higher than that in CKD group [40.0%(4/10) vs 6.45%(2/31 ),P <0.05].Conclusions The frequency of conjunctival congestion, indurative edema of palms and soles, changes of lips and oral cavity are less common in IKD patients comparing with CKD patients.The laboratory examination result and the risk of CAL in IKD patients are similar to CKD ones.Moreover, IKD is not sensitive to IVIG, so the doctors should pay more attention to it.

Dynamic observation of the echocardiographic features of coronary artery lesions in Kawasaki disease / 国际儿科学杂志

Objective To evaluate the echocardiographic features of coronary artery dilation (CAD) and coronary artery aneurysms (CAA) in Kawasaki disease dynamically.Methods Echocardiography was performed in KD cases for measurement of the diameter of the coronary artery.Results Twelve CAD and four CAA were identified in forty-one patients.In CAD group,left coronary artery (LCA) is more susceptive to dilation than right coronary artery (RCA)(P<0.05).Both LCA and RCA were involved in CAA group,the maximum diameter of coronary artery is 10mm.Six to eighteen days after treatment,LCA were regressed significantly in CAD group(P<0.05),but the diameter of RCA in CAD group and coronary artery in CAA patients have no change(P>0.05).Ten coronary artery lesion patients were followed up,8 CAD cases regressed completely,1 CAA extended,the other CAA regressed completely.Conclusions In CAD group,LCA is more susceptive to dilation than RCA,but it regressed significantly in a short time after treatment.Echocardiography is a non-traumatic method to detect the coronary artery lesions in KD patients dynamically.

Change of the disease constitution of complication in preterm infants of China-Japan friendship Hospital from 2004 to 2009 / 中国综合临床

Objective To analyze the change of disease constitution of complications in preterm infants in our hospital and to provide a scientific basis for the clinical prevention and treatment in the future. Methods Two hundred and sixty-eight preterm infants were admitted in NICU of our hospital from Jan. 2004 to Dec. 2009. The constitutions of complications in preterm infants were retrospectively analysed by year. Results One hundred and ninety-seven cases had complications and the incidence of complications was 73.51% ( 197/268 ). The most common complications of preterm infants in our hospital included neonatal hyperbilirubinemia (41. 62% ,82/197), neonatal hypoxic-ischemic encephalopathy (39. 59% , 78/197) and neonatal aspiration syndrome (34. 01%, 67/ 197). The change of disease constitution of the complications were as follows: the disease constitution of neonatal hyperbilirubinemia always located within the first 3 diseases ( ranged from 28. 57% to 75.76% , χ2 =13. 582, P < 0. 001) ;the occurrence of neonatal hypoxic-ischemic encephalopathy showed upward trend( increased from 10. 71% to 56. 25% ,χ2 =7. 577,P<0. 001) ,but decreased in 2008,2009;the neonatal aspiration syndrome presented with a high but fluctuant incidence among the 6 years (ranged from 15. 15% to 56. 25% ,x2=12.002,P < 0.001) ; the neonatal hypoglycemia increased in the nearly 3 years;the incidence of neonatal asphyxia was stationary;the disease constitution of neonatal respiratory distress syndrome fluctuated up and down( ranged from 3. 57% to 20.41% ,χ2 = 4. 125,P<0. 05) ;the anemia in premature infant showed upward trend,increasing from 3.03% to 18. 37% (χ2 = 4. 332,P< 0.05 ) ; the occurrence of neonatal scleredema decreased with no statistical significance; the preterm infants suffered from infectious diseases with lower rate. Conclusions The disease constitution of the hospitalized preterm infants in our hospital in the last 6 years is mainly non-infectious diseases. The neonatal asphyxia recovery technology should be further improved. The serum bilirubin concentration should be monitored early after birth of preterm infants and intervened timely. Cranial imaging studies should be performed timely for early detection of brain injury.

Clinical characterstics of roseola infantum with febrile convulsions / 国际儿科学杂志

Objective To explore the clinical characteristics of roseola infantmn with febrile convulsions.Methods All cases with roseola infantum or with febrile convulsions were retrospectively collected who were confirmed during January 2005 to February 2008. There were 31 cases of roseola infantum with febrile convulsions. Their clinical features were compared with cases of roseola infantum without febrile convulsions and eases of other febrile convulsions,respectively, and further analyzed with literature. Results There were 17.1% (3 1 / 181 ) roseola infantum with febrile convulsions among febrile convulsions and 24.4% (31/127)among febrile convulsions less than 2 years;The incidence of roseola infantum with febrile convulsions was 15.7% (31/198) among roseola infantum. The median age of roseola infantum with febrile convulsions was less than that of other febrile convulsions. There were no significant differences in sex, age, maximum body temperature, duration of fever and day of rash onset between roseola infantum with and without febrile convulsions ( P > 0.05 ), but the frequency of family history of febrile convulsions was significantly higher in roseola infantum with febrile convulsions than in those without febrile convulsions ( P < O. 05). Conclusions Familial predisposition is a risk factor in roseola infantum with febrile convulsions. In most cases the prognosis of roseola infantum with febrile convulsions was good,but it can be associated with severe diseases of central nervous system. Roseola infantum should be considered when encountering children under the age of 1 year with a first febrile convulsion.

MR study of the brain in patients with tetrahydrobiopterin deficiency / 中华放射学杂志

Objective To observe the brain abnormalities of the white matter and myelination in patients with BH4 deficiency using MRI examination, and to further estimate the effect of treatment. Methods Eleven patients with BH4 deficiency aged 17 weeks to 4 years were observed, including 9 cases who were detected by newborn screening program. Although those patients were treated with low phenylalanine diet, and the blood phenylalanine 1evels maintained to 120-240 ?mol/L, the patients presented progressive hypotonia, convulsion, and mental retardation. All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC. The patients received MRI examination using a 0.5 T MR system. Results Delayed myelination was found in 11 cases (100%) in frontal lobe, 8 cases (72.2%) in occipital lobe, 4 cases (36.3%) in temporal lobe, and 3 cases (27.3%) in parietal lobe. Delayed myelination of corpus callosum could be found in 6 cases (54.5%). There were abnormal diffuse high signals in the white matter on T_2WI in all cases. Conclusion Patients with BH4 deficiency demonstrate a high occurrence of brain abnormalities in the white matter. Those abnormalities are related not only with hyperphenylalaninemia, but also due to the decreased synthesis of neurotransmitters, such as L-Dopa and 5-HTP, all of these could be the reasons of adverse effect of the development of white matter.