Scoliosis due to epilepsia partialis continua

A case is reported of scoliosis in a boy with epilepsia partialis continua, an unusual disorder with virtually constant episodes of seizures of only part of the body. The scoliosis appeared to be due to the seizure disorder. The epilepsy seriously inhibited conventional scoliosis management. The patient's scoliosis problem was finally solved by salvage surgery and intensive seizure medication supervision. Scoliosis management in complex seizure disorders presents special and unusual problems.     

Recanalization of occluded superior vena cava for replacement of LeVeen shunt catheter

Successful percutaneous replacement of the venous limb of a LeVeen peritoneovenous shunt with the use of angioplastic technique is reported. This method may be a first line of treatment in patients with intractable ascites and a failing shunt caused by chronic occlusion of the superior vena cava.     

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family [published erratum appears in Blood 1986 Jul;68(1):323]

Analysis of restriction site polymorphisms in the beta-globin gene cluster of a Saudi Arabian female with beta zero-thalassemia demonstrated that both of her beta-globin genes were missing a nonpolymorphic AvaII site in exon 2. Examination of the normal nucleotide sequence surrounding this AvaII site revealed that either of two nucleotide substitutions, TGG----TAG or TGG----TGA, could produce a nonsense codon at codon 37 and eliminate the AvaII site. Consequently, two oligonucleotides (19-mers spanning codons 36 through 41 and containing either TAG or TGA at codon 37) were synthesized and hybridized against genomic DNA of the proband and her family. Specific hybridization with one of the oligomers demonstrated that the patient's beta o-thalassemia was the result of homozygosity for the TGG----TGA mutation at codon 37. In certain cases, oligonucleotide hybridization using genomic DNA may obviate the need for gene cloning and sequencing in the characterization of point mutations.     

Lumbar spine: postoperative MR imaging with Gd-DTPA

Thirty patients with failed back surgery syndrome were studied to evaluate the effectiveness of magnetic resonance (MR) imaging with gadolinium-diethylenetriaminepentaacetic acid/dimeglumine (Gd-DTPA) in differentiating postoperative epidural fibrosis (scar) from recurrent disk herniation. Pre- and postcontrast MR images were interpreted without access to other diagnostic, surgical, or pathologic findings. Seventeen patients had surgical and pathologic correlation of the MR findings at 19 disk levels. The precontrast studies had a sensitivity, specificity, and accuracy of 100%, 71%, and 89%, respectively. The enhanced MR studies correctly depicted the character of abnormal epidural soft tissue in 17 patients at all 19 levels. Scar showed heterogeneous enhancement on the early T1-weighted spin-echo images obtained within 10 minutes after contrast material administration. Herniated disk did not show significant enhancement on the early studies but showed variable degrees of enhancement on delayed images in nine of 12 cases. Other criteria were found to be less useful than the pattern of enhancement. Results indicate that precontrast and early postcontrast T1-weighted spin-echo studies are highly accurate in separating epidural fibrosis from herniated disk.     

Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study

Background

The prevalence of genotypes of the 677C>T polymorphism for the MTHFR gene varies among humans. In previous studies, we found changes in the genotypic frequencies of this polymorphism in populations of different ages, suggesting that this could be caused by an increase in the intake of folate and multivitamins by women during the periconceptional period. The aim was to analyze changes in the allelic frequencies of this polymorphism in a Spanish population, including samples from spontaneous abortions (SA).

Methods

A total of 1305 subjects born in the 20th century were genotyped for the 677C>T polymorphism using allele specific real-time PCR with Taqman^® probes. A section of our population (n = 276) born in 1980–1989 was compared with fetal samples (n = 344) from SA of unknown etiology from the same period.

Results

An increase in the frequency of the T allele (0.38 vs 0.47; p < 0.001) and of the TT genotype (0.14 vs 0.24; p < 0.001) in subjects born in the last quarter of the century was observed. In the 1980–1989 period, the results show that the frequency of the wild type genotype (CC) is about tenfold lower in the SA samples than in the controls (0.03 vs 0.33; p < 0.001) and that the frequency of the TT genotype increases in the controls (0.19 to 0.27) and in the SA samples (0.20 to 0.33 (p < 0.01)); r = 0.98.

Conclusion

Selection in favor of the T allele has been detected. This selection could be due to the increased fetal viability in early stages of embryonic development, as is deduced by the increase of mutants in both living and SA populations.