Extensive cervical spine and foregut anomaly in 'serpentine syndrome'.

INTRODUCTION: We report an extremely rare and challenging combination of congenital anomalies. Only five similar cases have been described in the English language medical literature to date. PRESENTATION OF CASE: A male infant was born at 30(+5) weeks gestation by emergency caesarian section. Cervical spine rachischisis, shortened oesophagus, intrathoracic stomach, atretic duodenum and absent spleen were noted, in addition to respiratory insufficiency. Gastrointestinal re-anastomosis, particularly oesophageal lengthening, was not feasible at the initial thoracotomy. Surgical stabilization of the cervical spine was unlikely to be successful until two years of age. Asplenia predisposed the infant to sepsis from encapsulated organisms, and recurrent respiratory infections occurred. DISCUSSION: A close relationship exists between the upper gastrointestinal tract and cervical spine during embryonic development. An embryonic aberration at this level could account for all the deformities present in this infant. Tethering of the embryonic cervical oesophagus to the somites in the first trimester, preventing foregut elongation, and producing ischaemia at the coeliac axis, is suggested as the aetiology. CONCLUSION: This case presented a challenge to the multi-disciplinary team involved in his management and prompted extensive consultation with international experts. After considerable counseling of the parents, care was directed towards palliation.

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

Inborn errors of metabolism have not previously been recognized as a risk factor for acute respiratory distress syndrome (ARDS). We report this complication in four patients with defects of the mitochondrial trifunctional protein (MTP). This enzyme catalyses three steps in the beta-oxidation of long-chain fatty acids. Three of the patients were homozygous for the 'common' 1528G>C mutation in the alpha-subunit of the MTP, giving rise to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The fourth patient did not carry this mutation but had severely decreased activities of long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketoacyl-CoA thiolase. One patient died and histology in this patient showed severe interstitial pulmonary fibrosis. The other three patients recovered after being ventilated for up to 6 months. The high frequency of ARDS in patients with MTP defects suggests that this inborn error may be a risk factor for ARDS.

Effect of 3M Coban Self-Adherent Wraps on edema and function of the burned hand: a case study.

Edema and limited function are common acute problems associated with hand burns. This case study examined the effects of 3M Coban Self-Adherent Wraps on edema and function in a 59-year-old male (46% TBSA flame injury) with newly skin grafted dorsally burned hands. At the time of each dressing change, circumferential measurements were taken of both hands and weekly active range of motion and grip strength measurements were recorded. The nine-hole peg test was used to appraise dexterity. During the 4-week study period, there was less edema, greater active range of motion and grip strength, and greater dexterity in the hand with 3M Coban Self-Adherent Wraps as compared with the control hand. This case study suggests that 3M Coban Self-Adherent Wraps were effective in reducing edema in the skin-grafted hand after skin grafting. It further appeared that the reduced edema may have contributed to improved hand function and that 3M Coban Self-Adherent Wraps as a compressive dressing do not impede hand function

The modulation of matrix metalloproteinase and ADAM gene expression in human chondrocytes by interleukin-1 and oncostatin M: a time-course study using real-time quantitative reverse transcription-polymerase chain reaction.

OBJECTIVE: Previous studies have reported elevated levels of interleukin-1 (IL-1) and oncostatin M (OSM) in rheumatoid joints, as well as the synergistic degradation of human articular cartilage by this cytokine combination. The present study was undertaken to investigate the ability of IL-1 and OSM to modulate gene expression of matrix metalloproteinase (MMP), ADAM, and ADAM-TS (ADAM with thrombospondin motifs) family members in human chondrocytes. METHODS: T/C28a4 human chondrocytes were stimulated for 2-48 hours with IL-1 and/or OSM. Total RNA was harvested, reverse transcribed, and assessed by real-time polymerase chain reaction for the expression of various MMP, ADAM, and ADAM-TS messenger RNAs (mRNA). Results were normalized to 18S ribosomal RNA. RESULTS: IL-1 and OSM synergized to markedly induce the expression of the collagenases MMP-1, MMP-8, and MMP-13 as well as MMP-3, an activator of proMMPs. Expression of mRNA for MMPs 1, 3, and 13 was induced early, whereas that of MMP-8 mRNA occurred late. Gene expression of MMP-14, an MMP that degrades collagen and activates proMMP-13, was elevated by this combination. IL-1 and OSM also synergized to induce gene expression of the aggrecanase ADAM-TS4, but not ADAM-TS5. CONCLUSION: These data indicate that the potent cartilage-degrading properties of the combination of IL-1 and OSM are potentially mediated by a synergistic induction of the aggrecan-degrading enzyme ADAM-TS4 and the collagen-degrading enzymes MMP-1, MMP-8, MMP-13, and MMP-14, although differences in the magnitude of response and in the time course of induction were observed. A role for MMPs 3 and 14 in the activation of proMMPs may also be implicated.

Temporal and spatial genetic variation in spawning grounds of European hake (Merluccius merluccius) in the Bay of Biscay.

Polymorphism at five microsatellite loci were screened to determine the genetic variability and the temporal stability of population structure in natural populations of European hake (Merluccius merluccius, L.) within the Bay of Biscay. In addition, the control region (900 bp) and two protein coding genes (ATPase, subunits 6 and 8, 842 bp and a partial sequence of the ND1, 800 bp) of the mitochondrial DNA (mtDNA) were sequenced from geographically distant populations from the extremes of the species range. One hundred individuals from either side of a supposed stock boundary within the bay were collected in autumn 1997. This sampling strategy was repeated during hake spawning seasons in late spring of 1998 and 1999. Low levels of population subdivision were found between putative populations within years. Similarly, low levels of differentiation were found between autumn 1997 northern samples and spring 1998 southern samples which were collected 7 months later on spawning grounds. These results are discussed in relation to ecological, behavioural and oceanographic information. Sampling effects, which may influence these results, are also discussed. Theta (theta) estimates were significantly different from zero in every other pairwise comparison between geographical areas (north and south of the Bay of Biscay) and between years within the same area (P<0.05). Hierarchical analysis of molecular variance (AMOVA) does not confirm the temporal persistence of population structure. These results are discussed in relation to variance in reproductive success, and temporal spawning patterns, which may exist within the bay. mtDNA variability was very low between geographically distant samples from Norway and the Mediterranean Sea with only 10 variable sites found in a total of 2542 bp of mtDNA, these differences being exclusively in the D-loop.

Macrogeographical population differentiation in oceanic environments: a case study of European hake (Merluccius merluccius), a commercially important fish.

Polymorphism at six microsatellite loci was used to study genetic variability and population structure in six geographically distant natural populations of European hake (Merluccius merluccius L.). Four hundred and eighty-three individuals were sampled from Trondheimsfjord in Norway, the Celtic Sea, the southern Bay of Biscay, Faro off Portugal, the Mediterranean Sea north of the coast of Tunisia and the Adriatic Sea. Population subdivision was found between Mediterranean and Atlantic samples, theta = 0.029 (P < 0. 001). No substructuring was found between samples within the Mediterranean Sea, theta = 0.003 and RST = 0.007 (P > 0.05). The Atlantic population structure appears to be more complex than previously suggested by the placement of stock boundaries by the International Council for the Exploration of the Seas (ICES). Analyses based on various models of microsatellite evolution all suggest that differentiation exists between Bay of Biscay and Portugese samples, theta = 0.013 (P < 0.001), RST = 0.036 (P < 0. 001) which are currently managed as one stock. By contrast, fixation indices indicated no differentiation between southern Bay of Biscay samples and Celtic Sea samples, theta = 0.003 (P = 0.02), phiST = 0. 007 (P = 0.10) which are managed as separate stocks. These results suggest that if the observed trends are stable through time, current management policy of European hake may need revision.

Uses of Coban self-adherent wrap in management of postburn hand grafts: case reports.

Coban wrap is a durable, elastic, self-adherent gauze that applies snugly without loosening. Coban does not stick to underlying tissue, making it excellent for early postoperative management of split- and full-thickness hand grafts. The wrap protects new grafts and decreases postoperative edema, permitting earlier mobility and facilitating accurate measurements for fitting of pressure garments. Wounds are judged suitable for Coban when the grafts are largely adherent and vascularized. Coban can be wrapped (1) directly over the graft, (2) over an ointment/adaptic dressing, or (3) over gauze padding for extra protection, or use as a "soft splint." Because of its inherent elasticity, Coban can be used to passively encourage desirable joint positions. The wrap is changed daily, and family members readily learn its use. Coban appears to encourage early, protected, active range of motion and early use of custom-fit pressure garments.

Evaluation of topical therapeutic ultrasound to improve response to physical therapy and lessen scar contracture after burn injury.

This study compared results of patients who received standard burn physical therapy and topical ultrasound with patients who received standard care alone to investigate the effect of topical therapeutic ultrasound on range of motion and pain in patients with burns. Fourteen burned extremities were studied. Eight joints were randomized to treatment with ultrasound followed by 10 minutes of passive stretching. Six joints received placebo ultrasound treatments and stretching. All treatments were performed every other day throughout a 2-week study period. Joint range of motion was measured before and after each treatment, and patients estimated the pain of the procedure. Patients and therapists were blinded to the treatment group. Analysis of the data revealed no differences in range of motion or perceived pain between the two groups. The effect of ultrasound on range of motion and pain was not predictable. We conclude that patients are not likely to improve from ultrasound treatment at our protocol parameters.

Influence of pressure supports on joint range of motion.

Burn patients often complain of restricted mobility following application of elasticized nylon anti-burn-scar supports. This study was designed to analyse the influence of this type of pressure garment on joint range of motion (ROM). Data were compiled from 80 burn-affected joints of 17 burn patients placed in a support for the first time. Joint ROM was measured directly prior to, and again immediately following, the donning of the pressure support. ROM was measured using standard goniometric techniques. Range of motion increased in 26 joints (32.5 per cent), decreased in 26 joints (32.5 per cent) and showed no change in 28 joints (35 per cent) after application of the pressure garment. There were no correlations between ROM results and age, time postburn and per cent TBSA in this population. Patients were also asked if movement felt any different after the support was applied. Their varied comments, such as movement felt easier or more difficult, were consistent with the actual ROM data. It appears that there is no predictably detrimental change in joint ROM due to the application of pressure garments.

A technique for control of hypertrophic scarring in the central region of the face.

Various methods are available for applying pressure to the central portion of the face to reduce hypertrophic scarring after burn injury. Our center uses an elastomer insert with a thermoplastic backing, which is formed over a plaster mold of the patient's face. The insert is worn under a traditional anti-burn scar face mask. We reviewed the records of 26 patients with hypertrophic scarring to the central portion of the face to assess the effectiveness of the insert. Seventeen (65%) of these patients wore the insert until scar maturation. Three of these 17 patients later required reconstructive surgery of the central face. Our findings suggest that pressure to this part of the face may be effective in decreasing hypertrophic scar formation. The insert described in this article is inexpensive and relatively easy to fabricate.

Grease burns at fast-food restaurants. Adolescents at risk.

Intermountain Burn Center and Utah State Insurance Fund industrial records were reviewed to determine the incidence and consequences of grease burns among teenagers employed at fast-food restaurants. Burn center records reveal that 10 patients were admitted between 1977 and 1985, and that nine patients required surgery with mean burn care costs of $7389 per patient. State Insurance Fund records demonstrate that 81 grease-burn injuries were reported from 1982 through 1985, at an average burn care cost of $660 per patient. Causes of burn wounds included adding, filtering, or removing hot grease, dropping objects into hot grease, slipping on the floor, cleaning the grill or fryer, and splashing hot grease during cooking. Those treated as outpatients were off from work for as long as 10 days. These data identify an adolescent population at risk for work-related burn injury in fast-food restaurants.

Rehabilitation of burn patients with concomitant limb amputation: case reports.

Burn patients with associated limb amputations present demanding rehabilitation problems, many of which might be expected to lead to chronic difficulties. Therapeutic goals following limb amputation include oedema reduction, prevention of contracture (through positioning and range of motion), stump shaping, both pre- and post-prosthetic fitting strengthening exercises of the limb and trunk, and gait training. Some patients present problems that are associated with both the burn injury and the limb amputation that cause concern among the physical therapy staff. Some of these situations include intolerance of the stump to pressure or manipulation due to remaining open wounds or fragility of newly skin grafted areas on the residual limb or delayed gait or functional training due to wounds on other body surface areas. Delays in stump preparation or other treatment aims due to continued surgical procedures can be worrisome. A review of these patients indicates the possible difficulties that rehabilitation personnel may face when treating burn victims who required amputation. Effective rehabilitation of these patients can be achieved despite the noted concerns.

Prosthetic use in patients with burns and associated limb amputations.

A review of 11 patients who sustained burns that were complicated by limb amputation was completed to determine their eventual ability to use prosthesis. Amputations included six below-elbow, four above-elbow, three below-knee, and three above-knee amputations. Ten of the 11 patients (91%) had open wounds on the stump limbs and nine patients (82%) required skin grafting procedures on the amputated limbs. Delays in prosthetic fitting because of continued surgeries, open wounds, skin grafts on the stump limb, and breakdown of the stump were identified. However, eight of these patients (73%) were eventually able to wear prosthetic devices. Fisher's exact test was used to test the influence of the number and site of the amputations and skin grafting on the stump on successful prosthesis use. None of these tested items were found to be significant. The results demonstrate that most patients with burns who require limb amputation can achieve successful prosthesis use.

Sensory loss over grafted areas in patients with burns.

We studied loss of cutaneous sensibility after grafting in 60 patients with burns who had applied for impairment assessment. Fifty-eight patients (97%) demonstrated markedly diminished or absent responses to sharp/dull, hot/cold, and light touch stimuli over grafted areas. However, all but one patient had intact perception over donor areas and over areas of healed (ungrafted) partial-thickness burns. Deep touch sensation was intact over both grafted and ungrafted areas in all patients. Loss of sensation was not related to patient age, burn size, or type of burn; nor did sensory loss correlate with the impairment rating received. Depth of burn injury appears to be the best predictor of altered sensation, and some abnormalities in patients appear inevitable after skin grafting. Patients should be counseled about possible outcomes. However, the decrease in sensation that was observed rarely contributed significantly to the long-term impairment rating of these burn victims.