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1.
J Pediatr Orthop ; 19(4): 500-3, 1999.
Article in English | MEDLINE | ID: mdl-10413000

ABSTRACT

We performed a retrospective review of 41 patients (ages 9-18 years) who underwent posterior spinal fusion with either Isola or Cotrel-Dubousset (CD) instrumentation to determine whether the presence of an apical hook on the thoracic convexity affected initial and long-term sagittal and coronal correction in adolescent idiopathic scoliosis surgery. A study group of 38 female and three male patients was evaluated (2-5 years of follow-up). Twenty-three patients (Group A) were treated with an up-going hook at the convex apex of the thoracic curve, and 18 patients (Group B) with similar curves were instrumented without an apical hook. Results showed that Group A's average preoperative coronal curve of 48 degrees decreased to 17 degrees , whereas Group B's preoperative average of 52 degrees decreased to 25 degrees . At follow-up, no statistical significance was noted in either coronal curve correction (p = 0.203) or sagittal kyphosis (p = 0.38) between Groups A and B. We conclude that omission of the up-going hook at the apex of the thoracic convexity can reduce postoperative discomfort in patients undergoing posterior spinal fusion, without sacrificing curve correction or balance.


Subject(s)
Orthopedic Fixation Devices , Scoliosis/surgery , Spinal Fusion/instrumentation , Adolescent , Child , Equipment Design , Evaluation Studies as Topic , Female , Follow-Up Studies , Humans , Male , Radiography , Range of Motion, Articular , Retrospective Studies , Scoliosis/diagnostic imaging , Sensitivity and Specificity , Spinal Fusion/methods , Treatment Outcome
2.
Hum Genet ; 89(5): 497-502, 1992 Jul.
Article in English | MEDLINE | ID: mdl-1634227

ABSTRACT

The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an altered melting behaviour were detected in three subjects, and direct sequencing showed two mutations. A G-to-T transversion causing a missense mutation, Cys-310 to Phe, suppresses a disulphide bond conserved in the catalytic domain of all serine proteases. This mutation, which in the homozygous form causes a severe reduction in protease activity (4%), was found in two patients from different Italian regions. A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. Two polymorphic alleles, which differ in one repeat monomer element, were precisely mapped in a region spanning the exon-intron 7 border of the factor VII gene and studied in families with factor VII or X deficiency.


Subject(s)
Chromosomes, Human, Pair 13 , Factor VII Deficiency/genetics , Factor VII/genetics , Genes/genetics , Mutation , Polymorphism, Genetic/genetics , Repetitive Sequences, Nucleic Acid , Base Sequence , Child , Chromosome Aberrations , DNA Mutational Analysis , Factor X Deficiency/genetics , Female , Glutamine , Humans , Italy , Male , Molecular Sequence Data , Pedigree , Polymerase Chain Reaction
3.
Br J Haematol ; 74(3): 282-9, 1990 Mar.
Article in English | MEDLINE | ID: mdl-1970740

ABSTRACT

Three TaqI restriction fragment length polymorphisms (RFLP) detected by the central portion of von Willebrand factor cDNA, which recognizes the true gene and in addition pseudogenic sequences, were characterized and mapped. Small cDNA fragments which hybridized with DNA from families with von Willebrand disease were used. Two of the RFLP, recognized by 1.7 and 0.45 kb cDNA fragments, are not in linkage either with von Willebrand disease or with RFLP located in the von Willebrand factor (vWF) gene, which indicates their pseudogenic location. These markers located in 22q11, near to the bcr gene, provide new tools for the study of several somatic and constitutional alterations affecting this chromosomal region. The third RFLP is recognized by a cDNA fragment corresponding to the N-terminal portion of mature vWF and is localized in the true gene. Since significant linkage disequilibrium with other informative RFLP is not present, this marker contributes to the definition of family haplotypes associated with von Willebrand disease.


Subject(s)
Genes/genetics , Polymorphism, Genetic/genetics , von Willebrand Factor/genetics , Blotting, Southern , Female , Genetic Markers/analysis , Hemostasis/genetics , Humans , Male , Pedigree , Polymorphism, Restriction Fragment Length , Pseudogenes/genetics
4.
Hum Genet ; 78(4): 359-62, 1988 Apr.
Article in English | MEDLINE | ID: mdl-2896159

ABSTRACT

The presence and inheritance of restriction fragment length polymorphisms (RFLPs) and gene lesions in the coagulation factor VIII gene were investigated in 15 hemophilia families. An abnormal HindIII 2.6-kb band, previously detected in a severe hemophiliac, was observed in a not severely affected patient and also in the normal gene of a woman carrying a hemophilic gene in which the lesions was found. The TaqI site in exon 24 of this defective gene was removed by a C to T transition causing an amino acid change (Arg----Gln). Very low amounts of factor VIII activity and antigen were detected in the severely affected grandson. The presence of the HindIII 2.6-kb fragment in both normal and pathological genes indicates that a factor VIII RFLP without functional meaning was found. Its frequency, determined in 60 chromosomes, is 0.18. Double digestions enabled us to map the polymorphic site 3' to the exon 19.


Subject(s)
Factor VIII/genetics , Hemophilia A/genetics , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Antigens/analysis , DNA/analysis , DNA Restriction Enzymes , Deoxyribonuclease HindIII , Exons , Factor VIII/analysis , Factor VIII/immunology , Female , Humans , Male , Mutation , von Willebrand Factor
5.
N Engl J Med ; 316(15): 918-22, 1987 Apr 09.
Article in English | MEDLINE | ID: mdl-3102963

ABSTRACT

Post-transfusion hepatitis is frequent among patients with hemophilia who are treated with concentrated factor VIII prepared from pooled plasma, especially if it is obtained from paid donors. In 26 patients with hemophilia A or von Willebrand's disease who had not been treated with blood or any blood product and hence were highly susceptible to the development of post-transfusion hepatitis, we infused 32 batches of a factor VIII concentrate that had been produced from large pools of human plasma (collected from paid plasmapheresis donors) and then heated in solution at 60 degrees C for 10 hours before final lyophilization. Patients were examined clinically and serologically over a period of 12 months after the first infusion of the pasteurized concentrate. Neither hepatitis nor serologic signs of other viral infections were observed. The hemostatic effectiveness of the concentrate appeared to be satisfactory relative to untreated concentrates.


Subject(s)
Factor VIII/therapeutic use , Hemophilia A/therapy , Hepatitis B/prevention & control , Sterilization/methods , Adolescent , Adult , Blood Transfusion , Child , Child, Preschool , Follow-Up Studies , Hemophilia A/complications , Hot Temperature , Humans , Infant
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