Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.

We determined the frequency of galactose-1-phosphate uridyl transferase gene mutations: Q188R, K285N, and the Duarte allelle in 86 patients with idiopathic premature ovarian failure (POF) and 95 controls. No association of the mutations with POF was found.

Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.

In a retrospective case-control study, the frequencies of Q188R, K285N, N314D, and IVS5-24G>A mutations were determined with the use of polymerase chain reaction and restriction fragment length polymorphism in the group of infertile women and the controls. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups.

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.

Impaired activity of the enzyme galactose-1-phosphate uridyltransferase (GALT) has been proposed as a risk factor for idiopathic presenile cataract. A study was undertaken to determine the prevalence of the three most common mutations in the GALT gene (Q188R, K285N and N314D, including its variant Duarte-2) in a group of Slovenian patients with idiopathic presenile cataract. GALT activity was determined in the erythrocytes of 30 cataract patients.

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.

Numerous mutations in the galactose-1-phosphate uridyl transferase (GALT) gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity in different populations and ethnic groups. The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population.

Surgery of the salivary ducts.

Successful surgery of the salivary ducts relies on an understanding of the surrounding anatomy and the delicate dissection of tissues in order to reduce morbidity. Trauma to the ducts should be assessed when lacerations or wounds encroach on their paths. Early diagnosis and treatment will reduce the complications of stricture and fistula formation from these injuries.

Soft tissue surgery in the oral and maxillofacial region.

The practice of dentistry is most often perceived as the treatment of the hard tissues of the oral region, specifically the teeth and jaws. However, there are many disorders and conditions involving surgical treatment of the soft tissues that extend to the adjacent and associated structures of the oral and maxillofacial surgery region.

Lip augmentation using an alloderm graft.

A wide variety of surgical procedures and implant materials have been used to satisfy the growing demand of patients for lip augmentation. The authors describe our experience with Alloderm (LifeCell Corp, The Woodlands, TX). It has proven to be a safe and effective means of offering mild to moderate augmentation of the lips.

Treatment of mandibular angle fractures using two mini dynamic compression plates.

Thirty patients with 31 fractures of the mandibular angle were treated by open reduction and internal fixation using two mini dynamic compression plates with self-threading screws placed through a transoral incision with transbuccal trochar instrumentation. None of the patients were placed into postsurgical maxillomandibular fixation (MMF) or training elastics. Complications requiring secondary surgical intervention occurred in nine fractures (29%).

Recovery of mandibular mobility following orthognathic surgery.

The aim of this prospective study was to define the patterns of recovery of mandibular mobility following three commonly performed orthognathic surgical procedures. Twenty-two consecutive patients undergoing either isolated Le Fort I osteotomy (LE FORT; n = 7), sagittal split ramus osteotomies (SSRO; n = 7), or intraoral vertical ramus osteotomies (IVRO; n = 9) were studied. LE FORT and SSRO patients had no mandibular immobilization, whereas IVRO patients were immobilized by dental fixation for 3 weeks.

[The potentials of sympathectomy in treating lesions of the lower extremities in diabetics].

Investigations of the system of general and regional hemostasis in patients with diabetes mellitus and the IVth degree of ischemia of lower extremities have established the development of chronic hypercoagulation-thrombotic forms of disseminated intravascular blood coagulability. Prophylactics of thrombotic complications allows to avoid high amputations in 80% of the patients, to make only necrectomies, small amputations and dermoplasty.

Recovery of neurosensory function following orthognathic surgery.

The purpose of this study was to prospectively define the recovery of touch discrimination following four commonly performed surgical procedures in 22 consecutive patients with no previous maxillofacial surgery. The surgical groups studied were Le Fort I osteotomy (LEFORT; n = 13), sagittal split ramus osteotomy (SSRO; n = 6), intraoral vertical ramus osteotomy (IVRO; n = 9), and isolated genioplasty (GENIO; n = 5). Neurosensory function was assessed by three different testing modalities which included static light touch (SLT), moving touch discrimination (MTD), and two-point discrimination (TPD).