Clinical screening and genetic diagnosis for Prader-Willi syndrome / 中国当代儿科杂志

OBJECTIVE@#To study the clinical screening and genetic diagnosis of children suspected of Prader-Willi syndrome (PWS), as well as the differences in the scores of clinical diagnostic criteria among the children with a confirmed diagnosis of PWS.@*METHODS@#A total of 94 children suspected of PWS who were admitted from July 2016 to December 2018 were enrolled as subjects. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to confirm the diagnosis. For the children with a confirmed diagnosis of PWS, the scores of clinical diagnostic criteria were determined, and the perinatal characteristics were analyzed.@*RESULTS@#A total of 11 children with PWS were confirmed by MS-MLPA, with a detection rate of 12%, among whom there were 7 boys and 4 girls, with a median age of 3 years and 4 months (range 25 days to 6 years and 8 months) at the time of confirmed diagnosis. Among the 11 children with PWS, only 5 children (45%) met the criteria for clinical diagnosis. The main perinatal characteristics of the children with PWS were decreased fetal movement (9 cases, 82%), cesarean section birth (11 cases, 100%), hypotonia (11 cases, 100%), feeding difficulties (11 cases, 100%), and weak crying (11 cases, 100%).@*CONCLUSIONS@#Gene testing should be performed as early as possible for children suspected of PWS by clinical screening. PWS may be missed if only based on the scores of clinical diagnostic criteria.

Association of +45 and +276 polymorphisms in the adiponectin gene with the development of Kawasaki disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms and its association with the development of Kawasaki disease and coronary artery lesion (CAL).</p><p><b>METHODS</b>A total of 81 children with Kawasaki disease (among whom 11 had CAL) and 100 normal children who underwent physical examination (control group) were enrolled in a case-control study. Sequencing was performed to investigate the distribution of adiponectin +45T/G and +276G/T polymorphisms.</p><p><b>RESULTS</b>There were no significant differences between the Kawasaki disease and control groups in the frequencies of TT, TG, and GG genotypes and T/G alleles of +45T/G polymorphism in the adiponectin gene (P>0.05). In the Kawasaki disease group, there were also no significant differences in the genotype and allele frequencies of the +45T/G polymorphism between the children with CAL and those without (P>0.05). There were significant differences between the Kawasaki disease and control groups in the frequencies of GG, GT, and TT genotypes and G/T alleles of +276G/T polymorphism in the adiponectin gene (P<0.05). GG genotype was a risk factor for the development of Kawasaki disease (OR=2.313, P=0.006). In the Kawasaki disease group, there was no significant difference in the genotype distribution of the +276G/T polymorphism between the children with CAL and those without (P>0.05).</p><p><b>CONCLUSIONS</b>The adiponectin +276G/T polymorphism may be associated with the development of Kawasaki disease, but not associated with CAL. The adiponectin +45T/G polymorphism may not be associated with Kawasaki disease or CAL.</p>

Serum adiponectin levels in children with Kawasaki disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the change in serum adiponectin levels and its significance in children with Kawasaki disease (KD).</p><p><b>METHODS</b>Forty-five KD patients were enrolled in this study, including 18 with coronary artery lesions (CAL group) and 27 without coronary artery lesions (NCAL group). Twenty healthy children were recruited to the control group. Enzyme-linked immunosorbent assay was used to measure serum adiponectin levels, and an automatic biochemical analyzer was used to measure the levels of triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C).</p><p><b>RESULTS</b>The serum adiponectin levels in the CAL and NCAL groups were significantly lower than in the control group during the acute phase, subacute phase, and recovery phase (P<0.01), with lower levels observed during the acute phase and subacute phase (P<0.01). Compared with the NCAL group, the CAL group had significantly higher serum levels of adiponectin during the acute phase and recovery phase (P<0.05). The levels of TC, HDL, and LDL in the NCAL and CAL groups were significantly lower than in the control group (P<0.05). The levels of serum adiponectin in KD patients were positively correlated with the levels of TC, TG, and C-reactive protein and the occurrence of CAL (r=0.31, 0.30, 0.34, and 0.35, respectively; P<0.05).</p><p><b>CONCLUSIONS</b>Children with KD have metabolic disorders of blood lipids and reduced serum adiponectin levels. Reduced serum adiponectin levels may be the result of systemic inflammation, while increased adiponectin levels may be closely associated with the occurrence of CAL.</p>

Diurnal variations in solar ultraviolet radiation at typical anatomical sites / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>Solar ultraviolet (UV) radiation is an important environmental factor that affects human health. The understanding of diurnal variations of UV radiation at anatomical sites may be helpful in developing ways to protect humans from the harmful effects of UV radiation.</p><p><b>METHODS</b>In order to characterize the diurnal variations, the UV exposure values were measured at 30 min intervals by using Solar-UV Sensors and a rotating manikin in Shenyang city of China (41 degrees 51'N, 123 degrees 27'E). Measurement data for four representative days (in each of the four seasons respectively) were analyzed.</p><p><b>RESULTS</b>The diurnal variations in solar UV radiation at the shoulder, the forehead and the chest were similar to those associated with a horizontal control measurement. However, the diurnal variations at the eye and the cheek exhibited bimodal distributions with two peaks in spring, summer and autumn, and a unimodal distribution in winter. The UV exposure peaks at the eye and the cheek were measured at solar elevation angles (SEA) of about 30 degrees and 40 degrees , respectively.</p><p><b>CONCLUSION</b>The protection of some anatomical sites such as the eye from high UV exposure should not be focused solely on the periods before and after noon, especially in the places and seasons with high SEA.</p>

Changes of Serum Kalium,Natrium,Chlorine,Calcium and Glucose in Children with Febrile Convulsion and Their Clinical Significance / 实用儿科临床杂志

Objective To study the changes and clinical significance of serum kalium,natrium,chlorine,calcium and glucose in children with febrile convulsion(FC).Methods Serum kalium,natrium,chlorine,calcium and glucose concentrations were measured in 41 children with FC(FC group),30 children with fever and without convulsion(fever group) and 30 normal children(normal group) by automatic biochemical detector.Results Serum kalium and calcium concentrations had no significant difference between FC group and fever group,but they were significantly lower than those of normal group(F=5.965,3.048 P0.05).Conclusions There are hyponatremia,hyperglycemia and lowered blood kalium and calcium in patients with FC.Hence,while treating the patient with FC,the disturbance of blood electrolytes and glucose need be corrected to avoid the recurrence of FC and the progressive injury of important organs such as brain.