Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the incidence of various types of mucopolysaccharidosis (MPS) and their clinical characteristics.</p><p><b>METHODS</b>A total of 75 children highly suspected as having MPS underwent quantitative and electrophoretic analysis of urinary glycosaminoglycans (GAGs) and enzymatic analysis of seven types of MPS from January 2009 to December 2011. Fluorescence assay was used to measure the activities of α-L-iduronidase, iduronate-2-sulfatase, α-N-acetylglucosaminidase, galactosamine-6-sulfatase, β-galactosidase, arylsulfatase B and β-glucuronidase in the white blood cells.</p><p><b>RESULTS</b>A total of 52 cases were confirmed with MPS based on clinical, radiological, and enzymatic examinations. The 52 cases, with a mean age of 4.0 ± 2.2 years, included 5 cases of MPS I (10%), 20 cases of MPS II (38%), 20 cases of MPS IVA (38%), 6 cases of MPS VI (12%) and 1 case of MPS VII (2%). No MPS IV B cases or MPS IIIB cases were found. Compared with healthy children of the same age, the GAG/Cr ratio was significantly elevated in 50 confirmed cases of MPS (two MPS IVA cases having no increased ratio). All children with increased urinary GAGs had a confirmed diagnosis of MPS. The age of onset was between 1 and 2 years after birth in most cases, and often complicated by hernia and valvular heart disease. Children with MPS I, MPS II, and MPS VI presented with ugly and unsmooth face, short stature, joint stiffness, and limitation of motion, while children with MPS IVA presented with short stature, skeletal dysplasia, and joint laxity.</p><p><b>CONCLUSIONS</b>Type IVA and type II are the most common in MPS cases, followed by type VI and type I. MPS children are characterized by special appearances including ugly and unsmooth facial appearance, short stature and skeletal dysplasia. Quantitative analysis of urinary GAG, as a simple, rapid, and reliable method, is recommended for screening of MPS.</p>

Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical and genetic characteristics of three children with ornithine carbamoyltransferase deficiency(OTCD), and to provide a practical method for gene diagnosis and genetic counseling of the disease.</p><p><b>METHODS</b>All exons of the ornithine carbamoyltransferase (OTC) gene were screened by polymerase chain reaction-DNA direct sequencing in the three OTCD patients.</p><p><b>RESULTS</b>One patient firstly presented as vomiting at 6 month of age. A missense mutation of T262I was detected. His mother had the same mutation without any clinical symptoms. The second patient presented as restlessness, and had a missense mutation of R277W. Gene analysis of his parents was not available. The third patient presented as neonatal lethargy, harbored a missense mutation of I172M. His mother had the same mutation without any clinical symptoms.</p><p><b>CONCLUSION</b>Gene mutation analysis is a feasible way for diagnosing OTCD. Patients with I172M mutation present symptom early, while those with T262I and R277W mutations manifest symptoms later. Gene mutation analysis will be important for asymptomatic and prenatal diagnosis and genetic counseling.</p>

Persistent hyperinsulinemic hypoglycemia of infancy: clinical analysis of 12 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the diagnosis and treatment of persistent hyperinsulinemic hypoglycemia of infancy.</p><p><b>METHODS</b>The clinical data of 12 infants with persistent hyperinsulinemic hypoglycemia were retrospectively reviewed.</p><p><b>RESULTS</b>Convulsion, cyanosis, lethargy, refusing milk sucking, irritability and sweating were common symptoms. The laboratory findings displayed persistent hypoglycemia and hyperinsulinism in all of the 12 infants. The glucagon test showed positive and no urine ketones were detected in all of the 12 infants. Seven infants were treated with oral diazoxide (5-15 mg/kg daily) and 4 infants showed effective to the therapy. One patient was given subtotal pancreatectomy and the blood glucose level was restored to normal after operation. Of the 12 infants, 6 presented psychomotor retardation in a follow-up of 2 months to 67 months, 3 had loss to follow-up and 3 were still in a follow-up.</p><p><b>CONCLUSIONS</b>The measurement of blood glucose, blood insulin and urinary ketons is helpful in the diagnosis of persistent hyperinsulinemic hypoglycemia of infancy. Diazoxide therapy is effective in some of patients.</p>

Clinical and Laboratorial Assessment for Identifying Isolated Premature Thelarche and Central Precocious Puberty / 实用儿科临床杂志

3-8 years old group(group C2) with 50 cases] were detected.A gonadotropin releasing hormone analogue(GnRHa) stimulation test was performed in 140 girls with IPT.The 140 girls were divided into 3 groups:IPT group,CPP group,and peripheral precocious puberty group(PPP group).Kruskal-Wallis and Mann-Whitneg tests were performed on the data between every groups.Results For basal LH levels,there were significant diffe-rences between IPT1 group and group C1,among IPT2 group,CPP group and group C2(Pa0.05).For peak LH/FSH ratios,there was significant difference between IPT2 group and CPP group(P

The effect of "living high and training low" on serum CK, LDH and ALT of rowing athletes / 中国应用生理学杂志

<p><b>AIM</b>To investigate the influence of living high-training low for 4 weeks on serum CK, LDH and ALT of rowing athletes.</p><p><b>METHODS</b>20 rowing athletes were divided into two groups: the one (ten subjects) spent 8-10 h per night in a tabernacle which was simulated altitude of 2 500 m in normobaric hypoxia (HiLo group), the another (ten subjects) slept at near sea level (control group). During the periods of test, all athletes were trained at the same relative or at the same intensity of work in normoxia state. The serum CK, LDH and ALT were measured at before, during 2 weeks, 4 weeks and 2 weeks after "living high and training low".</p><p><b>RESULTS</b>Baseline serum values for CK, LDH and ALT were not different between two groups (P > 0.05). The levels of CK, LDH of HiLo group were significantly increased (P < 0.05) than those of control group at 3 rd week, however, it was contrary at 5th and 7th week. After exercise of 2 km and 5 km, the values of LDH and CK at a moment notice and 30min postexercise test in HiLo group were significant lower than those in control group.</p><p><b>CONCLUSION</b>These results indicate that living high-training low may reduce the muscle damage associated with endurance exercise.</p>