D Grinberg — Page 3 | PubMed Health

PubMedDate not supplied

Extended applications for endoscopic forehead surgery.

Endoscopic equipment and specially designed elevators and dissecting instruments provide access to the forehead and scalp region through minimal incisions. This technique is now widely accepted for aesthetic forehead and browlifts. To our knowledge, however, it has not previously been used in reconstructive forehead and scalp surgery. We carried out a retrospective review of 5 cases involving patients who underwent reconstructive scalp and frontal bone defect surgery: 2 patients had frontal defects that were contoured with expanded polytetrafluoroethylene (Gore-Tex; WL Gore & Assoc, Phoenix, Ariz) inserted endoscopically; 2 patients had scalp soft tissue defects that were treated with wide subgaleal undermining and endoscopically guided galeotomies that resulted in primary closure; and 1 patient was treated for facial paralysis to improve the aesthetic result. We conclude that aesthetic endoscopic surgical techniques and equipment can be used in reconstructive therapy for patients with bony and soft tissue defects of the scalp and forehead.

Adolescent↗

PubMedDate not supplied

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.

Gaucher disease is a lysosomal storage disorder inherited as an autosomal recessive trait. It is highly prevalent among Ashkenazi Jews but also present in other populations. Mutations in the glucocerebrosidase gene are the main cause of the disorder. One of these gene defects, N370S, is the most prevalent disease allele in the Ashkenazi Jewish patient population and also frequent in others, such as the Spanish and Portuguese Gaucher disease populations. Previous results based on haplotype analysis support the hypothesis of a single origin for this mutation. We have extended the haplotype analysis to include three newly described polymorphisms, 5GC3.2, ITG6.2 (very close to the gene), and 5470 G/A (in intron 7 of the GBA gene) in a sample of Spanish and Ashkenazi Jewish patients. The results confirm the single origin of the mutation in these two populations. The 5470A allele is only found in N370S chromosomes and was believed to be limited to the Portuguese population. Here we describe that it is also present with a similar frequency in Spain. Moreover, most of the 5470A alleles are found within particular haplotypes, which have some differences from the common N370S haplotype.

Chromosome Mapping↗