Mutational analysis and prenatal diagnosis of COL1A1 and COL1A2 genes in four Chinese families affected with osteogenesis imperfecta / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations of COL1A1 and COL1A2 genes in four Chinese pedigrees affected with osteogenesis imperfecta (OI) and provide prenatal diagnosis for a fetus at 18th gestational week.</p><p><b>METHODS</b>All coding regions and exon/intron boundaries of the COL1A1 and COL1A2 genes were analyzed with targeted next-generation sequencing (NGS). Suspected mutations were confirmed with Sanger sequencing in the probands, unaffected relatives and 200 unrelated healthy individuals. Prenatal diagnosis for a high-risk fetus was carried out through Sanger sequencing.</p><p><b>RESULTS</b>The probands of families 1 and 2 have respectively carried a c.760G>A (p.Gly254Arg) and a c.608G>T (p.Gly203Val) mutation of the COL1A1 gene. For family 3, the proband and his daughter have carried a novel c.299-1G>C splicing mutation of the COL1A1 gene. The same mutation was not found in the fetus of this family. For family 4, the proband has carried a novel c.1990G>C (p.Gly664Arg) mutation of the COL1A2 gene. The four mutations were not found in the unaffected relatives and 200 unrelated healthy individuals.</p><p><b>CONCLUSION</b>The mutations of the COL1A1 and COL1A2 genes probably underlie the disease in the four families. NGS combined with Sanger sequencing can provide an effective and accurate method for their genetic and prenatal diagnosis.</p>

Application of plasma exchange in the treatment of hemolytic uremic syndrome / 中国小儿急救医学

Objective To investigate the significance of plasma exchange (PE) treatment on children with hemolytic uremic syndrome (HUS).Methods From Jan 2008 to Dec 2010,16 patients diagnosed with HUS were included in this study,and PE was carried out on them.Frozen plasma was taken as replacement fluid,and the treatment time was 2 to 3 hours per time.Results All the 16 patients after PE treatment were survived without any apparent complications.The condition obviously alleviated after initial treatment.In 12 to 72hours,the icterus disappeared,serum creatinine [ ( 385.0 ± 189.4 ) μmol/L vs ( 100.0 ± 19.3 ) μmol/L ] and lactate dehydrogenase [ (799.3 ± 289.8 ) U/L vs (300.0 ± 100.4) U/L ] declined obviously ( P ＜ 0.05 ) and platelet count [ (45.0 ± 18.8 ) × 109/L vs ( 120.0 ± 20.0 ) × 109/L ],hemoglobin [ ( 59.3 ± 15.3 ) g/L vs ( 120.0 ± 18.3) g/L] rised( P ＜ 0.05 ).In the end,symptoms disappeared in 15 patients,laboratory examination returned to normal in 14 cases.Hospitalization time was 15 to 57 days.Conclusion PE can effectively relieve the illness and remove plasma pathogenic substances,block the pathological process of HUS and supply useful ingredients.Recommend PE as the fhst option in the treatment of HUS.

Effect of hemoperfusion therapy in children with acute tetramine poisoning / 中国小儿急救医学

ObjectiveTo analyze the therapeutic experience and value of hemoperfusion in children with acute tetramine poisoning.MethodsAccording to the choice of children's legal guardian,67 cases with acute tetramine poisoning were divided into two groups:the perfusion group (48 cases),and the control group (19 cases).The patients in perfusion group received blood perfusion based on conventional treatment,while the patients in control group received conventional treatment only.Survival outcomes of patients with different serum tetramine concentrations in two groups were compared.ResultsWhen the serum concentration of tetramine was ＞0.5 mg/dl,patients in both groups died in a short time.When the serum concentration of tetramine was 0.20～0.49 mg/dl,the drop value of serum concentration of tetramine significantly greater in perfusion group [(0.28±0.02) mg/dl] than that in control group [(0.13±0.03) mg/dl] (P＜0.05).When the serum concentration of tetramine was ＜0.2 mg/dl,the drop value of serum concentration of tetramine in two groups showed no significant difference [ (0.12±0.02) mg/dl vs (0.11±0.03) mg/dl] (P＞0.05).Conclusion The treatment method for tetramine poisoning should be selected based on the serum concentration of tetramine.