Objectives To observe the effects of varied doses of L-thyroxin sodium ( L-T4) on congenital hypothyroidism ( CH) and to determine appropriate dose for early therapeutic intervention. Methods Totally, 108 cases of confirmed CH were divided into two groups (54 in each group). All the cases were administered with L-T4 at varied doses( 10. 1? - 15. 0 ?g ? kg-1? d-1 for large-dose group and 6. 0 - 10. 0 ?g ?kg-1? d-1 for small-dose group) after their parents were trained for basic knowledge of CH by specialists. Their serum levels of T3, T4 and TSH, as well as their body height, weight and head circumference, were measured during follow-up. L-T4 was maintained at doses of 1. 0 - 4. 0 ?g ? kg -1 ? d-1 when their serum levels of T3, T4 and TSH returned to normal. Results All the 108 cases had their clinical symptoms quickly improved and development and growth accelerated after L-T4 substitution. Their serum level of T3 returned to normal in all cases, that of T4 did not return to normal in six cases of large-dose group and in 16 cases of small-dose group, and that of TSH did return to normal in 22 cases of large-dose group and in 39 cases of small-dose group, respectively, after one-month treatment, with a significant difference between the two groups. Cases in large-dose group gained more weight in average than those in small-dose group when they were three months old. Conclusions Early therapeutic intervention for babies with CH with L-thyroxin sodium of 10. 1 -15. 0 ?g ? kg-1? d-1 could quickly correct abnormal function of their thyroid and could avoid abnormal development of their intelligence due to CH.

Objective The aim of this study was to compare recent clinical efficacy between a novel guidance method for percutaneous pedicle screw placement and the conventional fluoroscopic method for long segments thoracolumbar vertebral fracture without nerve injury. Methods A total of 38 patients with thoracolumbar vertebral fracture in our hospital from September 2010 to December 2012 were divided into group A and group B.Eighteen patients in group A underwent 200 percutaneous pedicle screw fixation by conventional fluoroscopic meth-od.Twenty patients in group B underwent 210 percutaneous pedicle screw fixation by a novel guidance method.All the operation for 38 cases were performed by the same surgeon.The time of insertion,radiation exposure,and accuracy of the screw placement between the two groups were compared.The accuracy of screws was evaluated and graded by two consecutive postoperative CT of operation segment for two groups. Results The mean time for a single pedicle screw placement was (13.11 ±2.32)minutes in group A and (10.35 ±1.92)minutes in group B,respectively.The average radiation exposure was (8.11 ±1.15)s in group B and (13.07 ±2.06)s in group A respectively.The differ-ences were statistically significant for both screw placement and radiation exposure times (P <0.05).A total of 172 screws (86.00%)in group A and 185 screws (88.09%)in group B were perfectly located within the pedicle.The statistical difference of grade A between two groups was not significant(P >0.05).Conclusion The novel guidance system can significantly reduce the insertion time and radiation expo-sure for long segments percutaneous pedicle screw placement,which provides the same accuracy for screw placement compared with the con-ventional method.

OBJECTIVETo provide mutation analysis and prenatal diagnosis for a family affected with congenital factor VII(FVII) deficiency.

METHODSDNA was extracted from peripheral blood samples from the proband and his parents. All exons and flanking sequence of the FVII gene were amplified with PCR and subjected to direct sequencing. Prenatal diagnosis was performed by amniocentesis.

RESULTSA homozygous mutation (NM_000131.3) c.572-1G>A was identified in the proband. Both parents of the fetus were carriers of the mutation.

CONCLUSIONA method for molecular diagnosis of congenital factor VII deficiency was established and successfully applied for an affected family.

Factor VII Deficiency ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Prenatal Diagnosis