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Biomedical subjects

R J Redett

Publications and source records attributed to R J Redett.

5 recordsLinked to original sources

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Isolated oral clefts, including cleft lip with/without cleft palate (CL/P) and cleft palate (CP), have a complex and heterogeneous etiology. Case-parent trios from three populations were used to study genes spanning chromosome 2, where single nucleotide polymorphic (SNP) markers were analyzed individually and as haplotypes. Case-parent trios from three populations (74 from Maryland, 64 from Singapore and 95 from Taiwan) were genotyped for 962 SNPs in 104 genes on chromosome 2, including two well-recognized candidate genes: TGFA and SATB2. Individual SNPs and haplotypes (in sliding windows of 2-5 SNPs) were used to test for linkage and disequilibrium separately in CL/P and CP trios. A novel candidate gene (ZNF533) showed consistent evidence of linkage and disequilibrium in all three populations for both CL/P and CP. SNPs in key regions of ZNF533 showed considerable variability in estimated genotypic odds ratios and their significance, suggesting allelic heterogeneity. Haplotype frequencies for regions of ZNF533 were estimated and used to partition genetic variance into among-and within-population components. Wright's fixation index, a measure of genetic diversity, showed little difference between Singapore and Taiwan compared with Maryland. The tensin-1 gene (TNS1) also showed evidence of linkage and disequilibrium among both CL/P and CP trios in all three populations, albeit at a lower level of significance. Additional genes (VAX2, GLI2, ZHFX1B on 2p; WNT6-WNT10A and COL4A3-COL4A4 on 2q) showed consistent evidence of linkage and disequilibrium only among CL/P trios in all three populations, and TGFA showed significant evidence in two of three populations.

Chromosome Mapping↗

Methods and results of rhinophyma treatment.

Rhinophyma is a disfiguring soft-tissue hypertrophy of the nose. It is an uncommon disease that primarily affects Caucasian men in the fifth to seventh decades of life. Nine cases from the authors' series and a comparison of results following various treatment modalities are presented. Eight of the patients were Caucasian and one was African American. Excision of the diseased tissue with a scalpel or Goulian dermatome using loupe magnification provided the safest means of preserving the underlying sebaceous gland fundi that permit spontaneous re-epithelialization with the least scarring.

Aged↗

The use of simultaneous free latissimus dorsi tissue transfers for reconstruction of bilateral upper extremities in a case of purpura fulminans.

We report a case of extensive purpura fulminans destroying the soft tissue over the posterior aspect of both elbows. Simultaneous, bilateral free latissimus dorsi muscle transfers were used to close both wounds in a single procedure. The wounds resulting from severe purpura fulminans can be extensive and limb threatening. The simultaneous transfer of 2 free flaps can provide expeditious soft tissue repair while minimizing the risk of repeat anesthesia in these critically ill patients. We found that certain details concerning planning and performing the procedure fostered its successful outcome.

Adult↗

Limb salvage of lower-extremity wounds using free gracilis muscle reconstruction.

An extensive series reviewing the benefits and drawbacks of use of the gracilis muscle in lower-extremity trauma has not previously been collected. In this series of 50 patients, the use of microvascular free transfer of the gracilis muscle for lower-extremity salvage in acute traumatic wounds and posttraumatic chronic wounds is reviewed. In addition, the wound size, injury patterns, problems, and results unique to the use of the gracilis as a donor muscle for lower-extremity reconstruction are identified. In a 7-year period from 1991 to 1998, 50 patients underwent lower-extremity reconstruction using microvascular free gracilis transfer at the University of Maryland Shock Trauma Center, Johns Hopkins Hospital, and Johns Hopkins Bayview Medical Center. There were 22 patients who underwent reconstruction for coverage of acute lower-extremity traumatic soft-tissue defects associated with open fractures. The majority of patients were victims of high-energy injuries with 91 percent involving motor vehicle or motorcycle accidents, gunshot wounds, or pedestrians struck by vehicles. Ninety-one percent of the injuries were Gustilo type IIIb tibial fractures and 9 percent were Gustilo type IIIc. The mean soft-tissue defect size was 92.2 cm2. Successful limb salvage was achieved in 95 percent of patients. Twenty-eight patients with previous Gustilo type IIIb tibia-fibula fractures presented with posttraumatic chronic wounds characterized by osteomyelitis or deep soft-tissue infection. Successful free-tissue transfer was accomplished in 26 of 28 patients (93 percent). All but one of the patients in this group who underwent successful limb salvage (26 of 27, or 96 percent) are now free of infection. Use of the gracilis muscle as a free-tissue transfer has been shown to be a reliable and predictable tool in lower-extremity reconstruction, with a flap success and limb salvage rate comparable to those in other large studies.

Accidents, Traffic↗

Plasma specific gravity for identifying hypovolaemia.

To define ranges of plasma specific gravity useful for identifying volume depletion in older adults, plasma specific gravity was measured in 170 young adults (mean age 28 years) and 100 retirees (mean age 81 years), and ranges of values likely to be associated with volume depletion were defined. Subsequently, measurements of plasma specific gravity were made in 68 older emergency room (ER) patients (mean age 74 years), a few of whom had obvious reasons for being hypovolaemic, e.g. dehydrating diarrhoea, and these results were compared to those for the control groups. Ranges for plasma specific gravity useful for identifying volume depletion were designated as possible hypovolaemia (1.0265-1.0279), probable hypovolaemia (1.0280-1.0294), and hypovolaemia (> or = 1.0295). Using these definitions, there were more older ER patients compared to both young and old control group subjects, respectively, with probable hypovolaemia (21% vs. 5% and 8%; p < 0.03) and hypovolaemia (16% vs. 0% and 0%; p < 0.03). This study establishes ranges for plasma specific gravity for young and old adults likely to be associated with hypovolaemia, and shows that based upon measurement of plasma specific gravity, older ER patients may often be hypovolemic even in the absence of obvious fluid-wasting illnesses. Future studies are needed to identify the risk factors for hypovolaemia in ER patients, and more vigorously substantiate the findings of this study.

Adult↗