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. DNA was isolated from their blood and analysed for Q188R, K285N and N314D mutations and IVS5-24G>A intronic variation by means of polymerase chain reaction and digestion with restriction enzymes. The average GALT activity of the cataract group was 19.5+/-4.9 U/g Hb, which is lower than the normal range (p = 0.034). Frequencies of Q188R, K285N, N314D and Duarte-2 alleles in the cataract group were 0.00%, 5.0%, 11.7% and 3.3%, respectively. Only the frequency of the K285N mutation was significantly higher in the patient group than in the control group (p = 0.0244). Our results support the reported association of decreased GALT activity with idiopathic presenile cataract. Molecular analysis indicates that, in the Slovenian population, this association is linked to the K285N mutation, which is neonatally benign in heterozygotes.

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.

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. Sialoliths can be located in several places along the length of the salivary ducts. The correct diagnosis and positioning of the stone in the duct is important in establishing the appropriate surgical approach. Imaging using plain films, ultrasonography, and endoscopy can be very valuable, with sialography and CT scans helpful in cases of radiolucent stones, glandular atrophy, or suspected tumor. As the condition becomes more chronic, resulting in glandular atrophy, excision of the diseased gland is often indicated. Treatment of excessive salivary flow in patients with cerebral palsy can be managed by a combination of ductal repositioning and glandular excision. Redirection of both the parotid and submandibular glands can be accomplished, either to reroute excess salivary flow or salvage the duct in cases of lesion excision.

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%). Three were early infections requiring incision and drainage, removal of the hardware, and postoperative MMF. One was a nonunion with malocclusion requiring application of a more rigid bone plate. Five fractures developed late chronic swelling and low-grade infection requiring plate removal. Osseous union had occurred in these cases and no MMF was necessary. The use of two mini dynamic compression plates in the manner done in this study was found to be a relatively easy but unpredictable treatment for fractures of the mandibular angle.

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. Mandibular mobility was assessed by measurement of maximal mandibular opening (MMO) and lateral and protrusive excursions. No significant difference in MMO was observed between groups prior to surgery (LE FORT, 47.0 mm; SSRO, 50.7 mm; IVRO, 54.5 mm). A significant reduction in MMO occurred immediately after surgery in the LE FORT and SSRO groups and at release of fixation in the IVRO group. Each group returned to presurgical levels of mandibular mobility at a different rate following surgery. LE FORT patients recovered quickly, regaining 83% (mean, 38.7 mm) of MMO by 1 month and exceeded preoperative levels (mean, 49.6 mm) by 6 months. SSRO patients showed hypomobility (mean, 23.5 mm) after 1 month, with significant improvement in MMO (mean, 38.0 mm) at 2 months, and nearly complete recovery (96.2%; mean, 48.8 mm) at 6 months. IVRO patients recovered rapidly after release of dental fixation, achieving 78% (mean, 39.8 mm) of preoperative MMO at 2 months. This study shows that significant differences in recovery patterns of mandibular mobility exist between surgical procedures. The clinician should be aware of these differences in recovery patterns in defining goals for individual patient rehabilitation.(ABSTRACT TRUNCATED AT 250 WORDS)

[The potentials of sympathectomy in treating lesions of the lower extremities in diabetics]. / Vozmozhnosti simpatéktomii v lechenii porazhenii nizhnikh konechnostei u bol'nykh sakharnym diabetom.

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). Cutaneous sensation of the lower lip and chin were examined for the mandibular procedures, whereas the infraorbital and upper lip regions were evaluated following maxillary surgery. Immediately following surgery, each group varied in both the incidence and magnitude of neurosensory deficits (NSD). The SSRO group had the highest percentage of sites with immediate postsurgical NSD to both SLT (72%) and MTD (67%), followed by the LEFORT (SLT = 50%, MDT = 58%), GENIO (SLT = 27%, MTD = 6%), and IVRO groups (SLT = 11%, MTD = 18%), respectively. Each group also varied in the severity of the initial postoperative deficit as measured by SLT, with the SSRO group showing the greatest deficit followed by the LEFORT, GENIO, and IVRO groups. During the 6-month recovery period each group approached preoperative levels of sensation at a different rate. The LEFORT group recovered most rapidly, with few anatomic sites showing NSD (SLT = 20%, MTD = 5%) at the 1-month postoperative examination, and the majority of the group (96%) returned to preoperative sensation by 3 months following surgery. The SSRO group recovered more slowly, with approximately half of the group demonstrating a deficit (SLT = 50%, MTD = 59%) at 1 month, which diminished to about one fourth of the sites (SLT = 25%, MTD = 5%) by 3 months. Most of the SSRO group (90%) exhibited no residual deficit 6 months following surgery. The IVRO group had few sites with immediate NSD (SLT = 11%, MTD = 15%). In none of the surgical groups was a statistically significant correlation found between the severity of the initial NSD and length of time to complete recovery.