Autologous bilayered self-assembled skin substitutes (SASSs) as permanent grafts: a case series of 14 severely burned patients indicating clinical effectiveness.

Split-thickness skin autografts (AGs) are the standard surgical treatment for severe burn injuries. However, the treatment of patients with substantial skin loss is limited by the availability of donor sites for skin harvesting. As an alternative to skin autografts, our research group developed autologous self-assembled skin substitutes (SASSs), allowing the replacement of both dermis and epidermis in a single surgical procedure. The aim of the study was to assess the clinical outcome of the SASSs as a permanent coverage for full-thickness burn wounds. Patients were recruited through the Health Canada's Special Access Program. SASSs were grafted on debrided full-thickness wounds according to similar protocols used for AGs. The graft-take and the persistence of the SASS epithelium over time were evaluated. 14 patients received surgical care with SASSs. The mean percentage of the SASS graft-take was 98 % (standard deviation = 5) at 5 to 7 d after surgery. SASS integrity persisted over time (average follow-up time: 3.2 years), without noticeable deficiency in epidermal regeneration. Assessment of scar quality (skin elasticity, erythema, thickness) was performed on a subset of patients. Non-homogeneous pigmentation was noticed in several patients. These results indicated that the SASS allowed the successful coverage of full-thickness burns given its high graft-take, aesthetic outcome equivalent to autografting and the promotion of long-term tissue regeneration. When skin donor sites are in short supply, SASSs could be a valuable alternative to treat patients with full-thickness burns covering more than 50 % of their total body surface area.

Psychological characteristics of patients with myotonic dystrophy type 1.

OBJECTIVES: Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy. It is associated with motor symptoms but patients also display non-motor symptoms such as particular personality traits. Studies have reported mixed results about personality characteristics which may be attributable to small sample sizes, different disease severity of groups studied, and use of different questionnaires or method. This study aimed to describe the psychological characteristics of a large cohort of patients with DM1, to characterize those at risk of developing a psychiatric disorder, and to compare characteristics between two DM1 phenotypes, a mild and more severe adult-onset phenotype. METHODS: Two hundred patients with DM1 (152 adult-onset; 48 mild) were asked to complete questionnaires assessing personality traits, psychological symptoms, self-esteem, and suicidal risk. Neurological and neuropsychological assessments were performed to compare personality characteristics to clinical and cognitive measures. RESULTS: Patients with DM1 globally showed personality traits and psychological symptoms in the average range compared to normative data, with normal levels of self-esteem and suicidal ideation. However, 27% of patients were found to be at high risk of developing a psychiatric disorder. Moreover, psychological traits differed across phenotypes, with the most severe phenotype tending to show more severe psychological symptoms. The presence of higher phobic anxiety and lower self-esteem was associated with lower education, a higher number of CTG repeats, more severe muscular impairment, and lower cognitive functioning (P < 0.001). CONCLUSIONS: Different phenotypes should thus be taken into account in clinical settings for individual management of patients and optimizing therapeutic success.

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1.

The complexity and variability of disease manifestations in myotonic dystrophy (DM1) pose a challenge for the clinical management of patients. The follow-up of DM1 patients has been described as fragmented, inadequate or even deficient for many patients. Through a systematic review of the medical and social literature and a validation process with a DM1 expert panel, we summarized systemic and social concerns clinically relevant to DM1 and revisited recommendations for treatment. This article summarizes common manifestations of the central nervous system, visual, respiratory, cardiac, gastro-intestinal, genito-urinary, muscular and metabolic impairments. In addition, we emphasized the social features of DM1 such as low education attainment, low employment, poor familial and social environment and poor social participation. While cardiac, respiratory and swallowing problems affect life expectancy, it is often excessive daytime sleepiness, fatigue, gastro-intestinal and cognitive behavioural manifestations that are the most disabling features of the disorder. A more holistic approach in the management of DM1 and a purposeful integrated organization of care involving all members of the patients' environment including family, clinicians, decision-makers and community organizations are needed to move out of the spiral of disease and handicap and move toward optimal citizenship and quality of life.

Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1.

AIMS: The goal was to assess clinical and genetic knowledge and attitudes in patients affected by myotonic dystrophy type 1 (DM1). METHODS: Two hundred patients with molecular confirmation of the diagnosis of DM1 completed a multi-choice questionnaire. DM1 patients' knowledge and views were compared to clinically normal DM1 noncarriers (n = 264) and controls (n = 1,474). RESULTS: Knowledge of the DM1 mode of inheritance was better in noncarriers than in patients (p < 0.001). Noncarriers were more aware than DM1 patients of the common clinical characteristics of DM1 such as limitations in physical activities and problems related to employment, schooling, activities of daily living, parenthood, peer relationships, and personality (p < 0.001). Compared to controls, DM1 patients felt less informed about the availability of clinical genetic services (p < 0.05) and new genetic technologies (p < 0.001). Among patients, logistic regression revealed that each additional year of education (p < 0.05) and each additional 100 CTG repeats (p < 0.01), respectively, increased and decreased the odds of knowing the DM1 mode of inheritance by about 23% and 18% respectively, independently of age, age at onset of symptoms, gender, severity of muscular impairment, and intellectual quotient. CONCLUSIONS: DM1 patients' genetic knowledge is significantly dependent of the level of education and the number of CTG repeats. Healthcare providers should be aware of this situation in order to adjust counselling and education accordingly.

A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1.

OBJECTIVES: To assess contributors to excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (DM1), to characterise subjects with sleep-onset REM periods (SOREMPs), and to verify whether self-reported instruments and respiratory function tests can predict multiple sleep latency test (MSLT) and sleep-disordered breathing. METHODS: A sample of 43 DM1 patients without selection bias underwent polysomnography (PSG) for two consecutive nights and MSLT, completed a sleep diary and Epworth Sleepiness Scale (ESS), and were assessed for respiratory function and narcolepsy symptoms. RESULTS: ESS scores (ES) > or =11 and MSLT mean sleep latency (MSL) < or =8 min were found in 21 (50.0%) and 19 (44.2%) subjects, and either in 30 (69.8%) subjects. ES did not relate to MSL. Subjects with subjective sleepiness (ES> or =11) reported more cataplexy-like and sleep paralysis symptoms, longer habitual sleep times, and higher sleep efficiency and REM sleep per cent than those without. Subjects with objective sleepiness (MSL< or =8 min) had a higher stage 4 sleep per cent. Subjects with > or =2 SOREMPs (25.6%) showed higher muscular impairment, lower MSL, higher ES, and more cataplexy-like symptoms than those with < or =1 SOREMP. Apnoea-hypopnoea index (AHI) > or =5, predominantly obstructive, was found in 37 (86.0%) subjects, and AHI >30 in 12 (27.9%). Neither subjective nor objective sleepiness could be explained by AHI, nor satisfactorily predicted by daytime respiratory abnormalities. CONCLUSIONS: DM1 entails frequent EDS but with different phenotypes and distinct mechanisms involved. The high prevalence of daytime sleepiness and severe sleep apnoeas found in this study supports the routine use of clinical sleep interviews, PSG and MSLT in DM1, and emphasises the need for more randomised trials of psychostimulants.

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.

Socioeconomic deprivation has long been recognized as a prominent feature of myotonic dystrophy type 1 (DM1), but studies performed before the discovery of the mutation causing DM1 may have suffered an ascertainment bias towards the more severe forms of the disease. We have sought to clarify the relationship between CTG repeats, muscular impairment, and socioeconomic characteristics of 200 patients with DM1. Patients with DM1 reported lower educational attainment, lower employment rate, lower family income, and higher reliance on social assistance than the reference population. Logistic regression showed, on one hand, that CTG repeats and marital status were significant predictors of social assistance recipiency and, on the other hand, that CTG repeats and gender were significant predictors of low social support from family, after adjustment for age, gender, degree of muscular impairment, CTG repeats, educational level, and marital status. For example, each additional 100 CTG repeats was found to increase the odds of relying on social assistance by about 35% and having low social support by about 22%. The chances of experiencing socioeconomic deprivation are loaded heavily against patients with DM1. The relationship between increased CTG repeat length and higher risk of material and social deprivation must be acknowledged in the clinical management of DM1.

Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability.

OBJECTIVES: To assess the reliability of the Epworth Sleepiness Scale (ESS), Daytime Sleepiness Scale (DSS), Chalder Fatigue Scale (CFS), and Krupp's Fatigue Severity Scale (KFSS) in patients with myotonic dystrophy type 1 (DM1). METHODS: In total, 27 patients with DM1 were administered the questionnaires on two occasions, with a 2 week interval. Internal consistency and test retest reliability were measured using intraclass correlation coefficients (ICCs), and Cronbach's alpha, Cohen's kappa, and Goodman-Kruskal's gamma coefficients. RESULTS: Internal consistency of the CFS and KFSS were adequate (alpha > 0.70) but that of the ESS was weak (alpha = 0.24). Both daytime sleepiness and fatigue rating scales showed significant test retest reliability. Test retest reliability for individual items revealed inconsistencies for some ESS and CFS items. CONCLUSIONS: Reliability of the CFS, DSS, and KFSS was high, allowing their use for individual patients with DM1, but that of the ESS was lower, rendering its current usage in DM1 questionable. Fatigue rating scales such as the KFSS, which are based on the behavioural consequences of fatigue, may constitute a more accurate and comprehensive measure of fatigue severity in the DM1 population.

Development of sleep patterns in early adolescence.

This study examines the developmental changes of sleep patterns as a function of gender and puberty and assesses the prevalence of sleep habits and sleep disturbances in early adolescence. It also investigates the relationship between sleep patterns, sleep habits and difficulty falling asleep and nocturnal awakenings. The present analyses are based on results available for 588 boys and 558 girls for whom mothers completed questions concerning demographics and sleep at annual intervals when their child was aged 10--13 years. The results indicated that nocturnal sleep times decreased, bedtimes were delayed and differences between weekend and school day sleep schedules progressively increased with age. Gender and puberty were both associated with the timing of sleep on weekends. Girls presented longer weekend time in bed (TIB) and later weekend wake time than boys. Similarly, subjects with higher pubertal status showed longer weekend TIB and later weekend wake time than subjects with lower pubertal status. Difficulty falling asleep was associated with later weekend wake time and with sleeping with a night light. In conclusion, the gender differences commonly reported in adolescents' sleep patterns are most likely explained by girls' higher pubertal status. This study emphasizes the link between puberty and a putative physiological need for more sleep, in presence of a general reduction of sleep times during adolescence. From age 10--13 years, the delay and lengthening of the sleep period on weekends in comparison to schooldays is associated with difficulty falling asleep.

Development of disturbing dreams during adolescence and their relation to anxiety symptoms.

STUDY OBJECTIVES: This work assesses the prevalence and development of disturbing dreams among adolescents and the association of these dreams with anxiety. DESIGN: Sex differences in prevalence were analyzed with chi-square analyses. Changes over time were assessed with Wilcoxon tests and cross-tabulation tables. Associations with anxiety and DSM-III-R symptoms were assessed with ANOVA designs. SETTING: N/A. PARTICIPANTS: A total of 610 boys and girls rated their recall of disturbing and normal dreams at both 13 and 16 years of age. Subgroups of subjects were evaluated for anxiety symptoms at age 13 and for DSM-III-R symptoms of separation anxiety (SA), overanxious disorder (OD) and generalized anxiety disorder (GAD) at age 16. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: The recall of disturbing dreams was more prevalent for girls than for boys at both ages, and increased over time for girls while it decreased for boys. The recall of normal dreams was also more prevalent for girls at both ages, but this difference could not fully account for the difference in recall of disturbing dreams. Normal dream recall increased from age 13 to 16 for both sexes. The frequent occurrence of disturbing dreams was associated with anxiety at age 13 and with GAD, SA and OD symptoms at age 16 for both sexes. Evidence of more numerous OD symptoms for girls with frequent disturbing dreams suggests that this form of anxiety may partially account for the observed sex difference in disturbing dream prevalence. CONCLUSIONS: The findings highlight a prevalence of disturbing dreams that is especially marked for adolescent girls. Unlike previous cross-sectional studies, which have found the same sex difference, this longitudinal design also calls attention to within-subjects changes in disturbing dream recall. The results also confirm that the frequent recall of disturbing dreams is associated with pathological symptoms of trait anxiety-apparently even as young as 13 years of age. Further study of disturbing dreams may contribute to understanding of associated pathophysiological factors which, too, vary by sex (e.g., PTSD, insomnia, depression).

Sleep and circadian phase characteristics of adolescent and young adult males in a naturalistic summertime condition.

Our aim was to compare the circadian phase characteristics of healthy adolescent and young adult males in a naturalistic summertime condition. A total of 19 adolescents (mean age 15.7 years) and 18 young adults (mean age 24.5 years) with no sleep problems took part in this study. Two-night polysomnographic (PSG) sleep recordings and 24h secretion patterns of urinary 6-sulfatoxymelatonin were monitored in all 37 subjects. Sleep-wake patterns were initially assessed at home using a standard sleep diary. Circadian assessment included the measure of dim light melatonin offset (DLMOff) and the morningness-eveningness (M/E) questionnaire. As expected, compared to young adults, adolescents habitually spent more nocturnal time in bed and spent more time (and percentage) in delta sleep. No difference was found between adolescents and young adults on multiple sleep latency test (MSLT) sleep onset latencies, M/E, melatonin secretion measures (24h total, nighttime, daytime, and night ratio), and DLMOff. For the subjects as a whole, correlational analyses revealed a significant association between the DLMOff and M/E and between both these phase markers and habitual bedtimes, habitual rising times, and melatonin secretion measures (daytime levels and the night ratio). No association was found between phase markers and daytime sleepiness or sleep consolidation parameters such as sleep efficiency or number of microarousals. These results together indicate that adolescents and young adults investigated during summertime showed similar circadian phase characteristics, and that, in these age groups, an evening phase preference is associated with a delayed melatonin secretion pattern and delayed habitual sleep patterns without a decrease in sleep consolidation or vigilance.

Superior eyelid incision: an alternative approach for frontozygomatic dermoid cyst excision.

Sixty-five children presenting with frontozygomatic (lateral brow) dermoid cysts were operated using an upper eyelid crease incision. There were 38 girls and 27 boys age 3 months to 13 years (mean age, 15 months). The lesions were left sided in 32 patients and right sided in 33 patients. Preoperative radiograph or computed tomographic scan performed for 25 children failed to demonstrate a bony defect in the area of the cyst. At surgery, 14% of the cysts were adherent to the periosteum and 5% were subperiosteal. One cyst extended through the bone into the orbit. All cysts were removed completely, and this was accomplished without rupture in 54 patients. The average operating time was 21 minutes. All children were seen within 1 month of surgery. The postoperative course was uneventful except for early swelling and erythema in 2 children. Thirty-six patients (55%) could be reached for long-term follow-up (range, 1-7.1 years) postoperatively. The authors found no lid or ocular dysfunction and excellent scar camouflage in all patients.

Development of parasomnias from childhood to early adolescence.

OBJECTIVES: This study examines the prevalence and developmental changes of parasomnias and assesses gender differences, relationships between parasomnias, and associations with anxiety and family adversity using data collected during the course of a longitudinal study of a representative sample of children from Québec. METHOD: The present analyses are based on results available for 664 boys and 689 girls for whom mothers have completed questions concerning demographics, parasomnias, and anxiety level. For the prevalence and developmental aspects of parasomnias, prospective data were collected at annual intervals from 11 to 13 years old and retrospective data for the period between ages 3 and 10 years were collected when the children were 10 years old. RESULTS: Somniloquy, leg restlessness, and sleep bruxism are the most frequent parasomnias. More girls were afflicted with leg restlessness, while enuresis and somniloquy were more common in boys. High anxiety scores were found in children suffering from night terrors, somniloquy, leg restlessness, sleep bruxism, and body rocking. Parasomnias were unrelated to the index of family adversity. CONCLUSIONS: Although sleepwalking, night terrors, enuresis, and body rocking dramatically decreased during childhood, somniloquy, leg restlessness, and sleep bruxism were still highly prevalent at age 13 years, paralleling results found in adults. Sleepwalking, night terrors, and somniloquy are conditions often found together. The only robust gender difference was for enuresis. High anxiety scores in parasomnias are reported for the first time in a large, controlled study. Sociodemographic variables do not seem to play a major role in the occurrence of parasomnias.

Otoplasty: anterior scoring technique and results in 500 cases.

Corrective otoplasty is a commonly performed procedure to change the shape of the auricular cartilage. Many techniques use permanent sutures to maintain the cartilage folding, whereas other techniques rely on cartilage incisions (partial thickness or full thickness). At this institution, a cartilage cutting and anterior scoring technique has been used for more than 30 years with pleasing results. The surgical techniques published in the past have been reviewed and compared with the procedure used at this institution to point out the advantages, disadvantages, and differences of these various techniques. Also reviewed were 500 consecutive cases operated on under local or general anesthesia between January of 1993 and December of 1995 to determine the incidence of early and late complications. The patients were contacted by mail to return for a follow-up examination or answer a questionnaire, at least 2 years after the procedure. Early complications were bleeding in 13 cases (2.6 percent) and hematoma in 2 cases (0.4 percent). There were no infections or ear necrosis. A small cutaneous wound was present on the anterior skin in three patients (0.6 percent), and there was one wound dehiscence (0.2 percent). Late complications were keloids in two cases and inclusion cysts in three cases. Residual deformity was noted in 22 cases and asymmetry in 28 cases. Secondary surgery was performed in six cases. The questionnaire was answered by 387 patients (77.4 percent response rate): pain when the ear is touched was present in 22 cases (5.7 percent), hypesthesia in 15 cases (3.9 percent), occasional cutaneous irritation in 38 cases (9.8 percent), asymmetry in 71 cases (18.4 percent), and abnormal ear shape in 17 cases (4.4 percent). Twenty-nine patients (7.5 percent) also noted that the ear was more sensitive to cold or touch. The satisfaction rate was 94.8 percent: very satisfied, 74 percent; satisfied, 20.8 percent; dissatisfied, 4.2 percent; and very dissatisfied, 1 percent. These results were compared with other published series of complications and late results after otoplasty; the complication rates are similar or lower in this study. Therefore, it can be concluded that the cartilage cutting and anterior scoring technique otoplasty is a safe procedure with a high patient-parent-surgeon satisfaction rate.

Lymphangiomas in children: percutaneous sclerotherapy with an alcoholic solution of zein.

PURPOSE: To determine the efficacy of percutaneous sclerotherapy with an alcoholic solution of zein in lymphangiomas in pediatric patients. MATERIALS AND METHODS: Fourteen patients with macrocystic and mixed lymphangiomas were treated with use of Ethibloc as a sclerosing agent. The procedure was performed with ultrasonographic and/or fluoroscopic guidance. Follow-up clinical and sequential computed tomographic examinations were performed to evaluate regression of the lesion. RESULTS: Regression was excellent in nine (64%) of the 14 lesions: Regression was complete in four lymphangiomas and was to less than 5% of the initial volume in five. Satisfactory results were obtained in the remaining five (36%) of 14 lesions. The most frequent complication was leakage of Ethibloc without important sequelae in 10 of the 14 lymphangiomas. CONCLUSION: Percutaneous sclerotherapy with Ethibloc was a safe and effective procedure in the treatment of macrocystic and mixed lymphangiomas.

Cervical chrondrocutaneous branchial remnants.

Similar in appearance to preauricular tags but located in the lateral neck, cervical chondrocutaneous branchial remnants are a rather less common and less well known congenital lesion. A retrospective review of admissions at Sainte-Justine Hospital between 1980 and 1993 produced 20 cases of cervical tags, of which 17 were true cervical chrondrocutaneous branchial remnants and 3 were skin tags associated with a thyroglossal duct. Of the 17 true cervical chrondrocutaneous branchial remnants, 15 were operated on in our institution. The clinical characteristics, results of investigations, surgical data, pathologic findings, and associated anomalies were documented. Several interesting facts emerged, including a male predominance (11 of 17), a scarcity of bilateral lesions (1 of 17), the presence of an elastic cartilage core in all operated specimens (15 of 15), and a high incidence of associated anomalies (13 of 17). We suggest that the second branchial arch is the most likely origin for the lesion. We propose a clear, widely acceptable name for this anomaly in order to prevent further diagnostic confusion. Most important, although simple surgical excision is all that is required for treatment, a complete physical examination of the patient and possibly an ultrasound examination of the genitourinary tract are recommended because a cervical chrondrocutaneous branchial remnant has proven in many cases to be a visible "marker" for more serious associated anomalies.

Subperiosteal release of the floor of the mouth in Pierre Robin sequence: experience with 12 cases.

Between 1983 and 1995, 12 children with Pierre Robin sequence were treated with a subperiosteal release of the floor of the mouth (SRFM) to correct severe upper-airway obstruction (group 1: n = 10) and prolonged feeding difficulties (group 2: n = 2). Eight children had isolated Pierre Robin sequence, while four had associated anomalies. The age at surgery was 2 to 13 weeks (mean, 5.2 wk) in group 1, and 8.5 months to 5 years in group 2. Postoperative endotracheal intubation was maintained for 1 to 14 days, and nasopharyngeal intubation for 3 to 13 days. One child with a tracheostomy prior to SRFM was decanulated 11 weeks postoperatively. Postoperative course was uneventful and control polysomnograms (group 1) showed a marked improvement of the obstructive phenomenons and O2 saturation levels. Children were discharged 2 to 6 weeks postoperatively (mean, 4 wk) except for the child with a tracheostomy (19 wk). The only complication was a wound infection treated with systemic antibiotics. Oral feedings were initiated shortly after extubation: six children were discharged with oral feedings only, one child required supplemental gavages for 6 weeks at home, and three children had persistent inadequate oral intake. We have found SRFM to be an effective surgical procedure for the management of infants with Pierre Robin sequence.

Open fractures of the tibia in children.

Ninety open fractures of the tibia treated at the authors' institution between 1985 and 1994 were retrospectively reviewed. There were 38 Grade I, 35 Grade II, and 17 Grade III fractures. All patients had debridement and lavage of the wound under general anesthesia. Seventeen wounds (19.8%) were closed primarily and 69 (80.2%) were left open. Forty fractures (45.0%) were stabilized in casts, 31 (34.8%) in an external fixator, and 18 (20.2%) with casts and internal fixation. Six patients (7.1%) had superficial infection occur, 2 had vascular injuries, 1 of whom required an amputation, and only 1 had a neurologic injury. The average time to union was 4.5 months (range, 1.2-28.3 months). there were 10 delayed and 7 nonunions. Multiple regression analysis showed that only age of the patient and grade of the fracture were significantly associated with union time. Open fractures of the tibia in children older than 12 years of age have a high risk of developing delayed or nonunion when compared with the same injuries in children younger than 6 years of age.

Amniotic band attachment to a fetal limb: demonstration with real-time sonography.

On ultrasonography, an 18-week-old fetus was found to have his left hand attached to an amniotic band. The child was born with typical anomalies of the amniotic band syndrome. This observation tends to support an extrinsic theory for the pathogenesis of the amniotic band syndrome.