Is infrared thermography (IRT) a possible tool for the evaluation and follow up of Emery-Dreifuss muscular dystrophy? A preliminary study.

HYPOTHESIS: The hypothesis of this work is that infrared thermography could become a valid tool for the diagnosis and follow-up of the Emery-Dreifuss disease due to putative temperature changes produced by a constant degenerative evolution of this muscular dystrophy. TESTING THE HYPOTHESIS: To justify this hypothesis we proposed a pilot study with 2 brothers affected of Emery-Dreifuss who present a very different age, with the principal objective to evidence a possible evolution of this pathology. Acquisition and comparison of images of computerized axial tomography (CT) and thermography (IRT) of the distal limbs in 2 affected brothers. DATA AND DISCUSSION: Important image correlations in the region of the thighs and the posterior region of the legs have been highlighted. The comparison between the CT and the thermography showed how the first results are encouraged and promising and open a possible new line of research on the evaluation and follow-up of this disease. Despite this, a larger number of studies are needed to validate the thermography as a diagnostic technique and follow-up of this pathology.

Microsurgical Reconstructions for Head and Neck Cancers in Elderly Aged >80 Years: An Analysis of Surgical Outcomes and Quality of Life.

BACKGROUND: The rising incidence of primary head and neck (H&N) cancers in the elderly presents a dilemma regarding the appropriateness of complex surgery in this assumed frail age group. With limited data on surgical morbidity, survival, and patient quality of life (QOL), this analysis aimed to broaden the understanding of safety and effectiveness of microsurgical treatment in very elderly H&N cancer patients. METHODS: A prospective database analysis was used to evaluate surgical outcomes (morbidity, survival, and QOL) in all patients aged 80 years and older undergoing microsurgical reconstruction for cutaneous and intra-oral H&N cancers between 2004 and 2014. Outcomes were assessed for their association with surgical, tumour, and patient variables. Comorbidities were categorized by the ACE27 index and postoperative morbidity by the Clavien-Dindo scoring system. QOL was analyzed using the UW-QOLv4. RESULTS: Of 720 microsurgical reconstructions, 96 patients were identified. Median survival was 25 months. The ACE27 index was the only variable significantly associated with survival with a 5-year survival of 59.2 % in the least comorbid group versus 19.7 % in the most comorbid group (p 0.015). ACE-27 showed influence on socioemotional QoL scores. Physical QOL scores were influenced by tumour and operative factors. Patients were found to value physical QOL over socioemotional. CONCLUSIONS: Microsurgical reconstructions are well tolerated in the very elderly patients and should be considered predominantly based on comorbidity. Tumour stage, flap type, and cancer site should still form part of the preoperative counseling due to their implication on postoperative physical function.

Skin involvement in Dupuytren's disease.

UNLABELLED: Whether the palmar skin has a role in the development, propagation or recurrence of Dupuytren's disease remains unclear. Clinical assessment for skin involvement is difficult and its correlation with histology uncertain. We prospectively biopsied the palmar skin of consecutive patients undergoing single digit fasciectomy (for primary Dupuytren's disease without clinically involved skin) and dermofasciectomy (for clinically involved skin or recurrence) in order to investigate this relationship. We found dermal fibromatosis in 22 of 44 patients (50%) undergoing fasciectomy and 41 of 59 patients (70%) undergoing dermofasciectomy. Dermal fibromatosis appeared to be associated with greater preoperative angular deformity, presence of palmar nodules and occupations involving manual labour. Dermal fibromatosis exists in the absence of clinical features of skin involvement and we hypothesize that the skin may have a greater role in the development and propagation of Dupuytren's disease than previously thought. LEVEL OF EVIDENCE: III.

Vendaje seguro y sencillo para los dedos / Secure and simple dressing for digits

El vendaje de los dedos es un paso importante después de un traumatismo o de la cirugía de la mano. Debe proporcionar cubierta y protección, permitiendo el mayor movimiento posible para una rehabilitación postoperatoria precoz. Presentamos un método sencillo, rápido y económico para vendar dedos de forma unitaria después de traumatismos, cirugía u otros procedimientos, empleando una férula de aluminio y vendaje tubular, que permite además un buen rango de movimiento de todos los dedos (AU)

Digit dressing is an important step after trauma or surgery of the hand. It must provide covering and protection to the digit, leaving as much movement as possible allowing early postoperative rehabilitation. We introduce a simple, fast and cheap method to perform dressings in single digits after trauma, surgery or other procedures, using an aluminum applicator and a tubular bandage that let good mobility of fingers (AU)

Scrotal calcinosis: a very rare multiple clinical presentation.

Scrotal calcinosis (SC) is a rare benign disease that affects patients in childhood or early adulthood. It is characterized by slow-growing yellowish-white nodules consisting of deposits of calcium and phosphates, within the scrotal skin. The nodules vary in number, and can be solitary or grouped. Owing to the age of onset and anatomical location, SC may be a source of embarrassment and lead to social isolation. Because of its rarity, the aetiology of SC is still controversial. We report a very rare case of an SC in a 59-year-old white man who presented with multiple nodules with different clinical patterns in the scrotum, which had been present for > 42 years. Despite the rarity and the multiple long-lasting lesions, surgical excision of the scrotal nodules can offer a very good aesthetic outcome in a single procedure even under local anaesthesia.

Flap size/flow rate relationship in perforator flaps and its importance in DIEAP flap drainage.

The vascular architecture within a perforator flap is different from a conventional muscle or myocutaneous flap. The purpose of this paper is to understand the correlation between flow rate and flap size in perforator flaps. With extrapolation of these data, we have provided an indirect analysis of the venous drainage and its correlation with flap size. A prospective study was planned. Twenty-five patients were enrolled in this study: six patients were operated on using an anterolateral thigh (ALT) flap and 19 using a deep inferior epigastric artery perforator (DIEAP) flap. One month postoperatively, echo-colour-Doppler measurements were performed on pedicle and perforator arteries to calculate blood flow rate in the flaps. A correlation between weight and flow rate was analysed. Spearman rho statistic was calculated. A linear regression model was made from patient data of flow rate/flap weight and predicted values of flow per flap weight were calculated. Then, flow rate values of veins of various diameters were estimated using Hagen-Poiseuille's formula. Our data show that flow rate measured postoperatively on flap arteries is significantly correlated with flap weight [rho(23 d.f.)=0.725, P<0.01 (two-tailed)]. Moreover, we have calculated the minimum size of veins able to drain flaps of increasing weights with different patterns, i.e. our data show that veins of 1.30, 1.50 and 1.75 mm diameter could safely drain flaps of, respectively, 300, 500 and 900 g in weight. This can be useful preoperatively to estimate the risk of flap congestion and in planning additional drainage.

The propeller flap for chronic osteomyelitis of the lower extremities: a case report.

The goals of the treatment of chronic osteomyelitis are infection eradication with systemic antibiotic therapy and local management with radical excision of the infected tissue and obliteration of the remaining dead space. Adequate debridement and coverage with a well-vascularised tissue are mandatory for successful outcomes. Use of muscle covering for chronic osteomyelitis in the lower extremities is considered the best procedure. However, there have been instances where debridement of the bone tissue did not leave a deep cavity along the leg bones and fasciocutaneous flaps can be used in these instances to cover the defect and to restore function without recurrence of the disease. Recently, free non-muscle flaps have been used and assessed for chronic osteomyelitis or covering of exposed bone. Perforator flaps have been shown to be well vascularised due to a structural haemodynamic enhancement. In the light of these findings we report a successful case of chronic osteomyelitis of the right fibula treated with excision of the affected tissue and covering with a propeller flap. Instead of free flap covering, in order to optimise surgical reconstruction, reducing the operative time, donor and recipient site morbidity and risk of total flap failure, local perforator flaps and particularly the propeller flap may be indicated in the treatment of chronic osteomyelitis in selected patients when the defect is limited and there is no need to fill a deep bone cavity or a dead space. To our knowledge, this the first report of the use of a propeller flap in the treatment of chronic osteomyelitis in the lower extremities.

Innervated island pedicled anterolateral thigh flap for neo-phallic reconstruction in female-to-male transsexuals.

Many techniques have been described to create an aesthetic and functional neo-phallus after penile amputation or in female-to-male transsexuals. Microsurgical free-flap phalloplasty seems to be the preferred method of penile reconstruction. For many years the radial forearm free flap has been considered the best procedure, but other flaps have been attempted to minimize donor site morbidity and optimize outcome. Pedicled flaps are considered to be reliable and to decrease the risk of total failure. Recently, a one-stage non-microsurgical technique was described for phallic reconstruction in a young male patient. We report successful total phallic reconstruction in a female-to-male transsexual patient using an island pedicled anterolateral thigh (ALT) flap. Urethral reconstruction was left as a possible further procedure due to patient's preference. A malleable soft silicone penile prosthesis was inserted within the flap and the lateral cutaneous femoral nerve stump was sutured to the dorsal clitoris branch from the pudendal nerve for flap sensation. After 6 months, the patient demonstrated successful aesthetic and functional reconstruction referring to satisfactory sexual activity. To our knowledge, this is the first report of an innervated island pedicled ALT flap used for female-to-male penile reconstruction in a transsexual patient. The pedicled ALT flap may be a reliable option to avoid visible scarring at the donor site on exposed parts of the body, and reduce the risk of total flap failure from microsurgical procedures for reconstruction of a neo-phallus in this increasing population of patients.

Correction of swan neck deformity in rheumatoid arthritis using a new lateral extensor band technique.

Swan neck deformity is a progressive and disabling condition that commonly affects rheumatoid arthritic hands. During a 4-year period, 101 fingers in 43 patients had this deformity corrected using a new procedure combining the distally based extensor lateral band technique described by Littler and the flexor digitorum superficialis (FDS)-palmar plate pulley introduced by Zancolli. The ranges of motion of the metacarpophalangeal, proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints were assessed pre-operatively and 12 months after surgery. An average PIP joint hyperextension of -13.3 degrees was converted to +13.4 degrees . The ranges of motion of the proximal and DIP joints were significantly different (Student's t-test). No patient suffered recurrence of the deformity during an average follow-up of 20 months. This new technique improves some unappealing aspects of previous techniques and provides a stable and reliable correction of swan neck deformity.

A clinical analysis of Dupuytren's disease of the thumb.

Although Dupuytren's disease of the thumb was first described in 1833, the literature on this subject is limited to a few anatomical and clinical studies. This study examined the pattern of cords of Dupuytren's disease in 260 thumbs in 181 consecutive patients with evidence of disease relating to the thumb attending an out-patient clinic over a period of 36 months. Discrepancies in the literature are discussed in the light of the findings of this more detailed analysis and a simple but practical pictorial system for recording disease severity and detailing progression over time is presented.

Extracorporeal shock wave therapy for management of chronic ulcers in the lower extremities.

Management of chronic ulcers in the lower extremities is still a challenge for patients and health providers. Recent studies showed extracorporeal shock waves (ESW) as effective in stimulating growth factors, inducing angiogenesis and healing of fractures and injuries. This study was planned to investigate the opportunity of introducing the ESW in the treatment of chronic wounds. Thirty consecutive patients with chronic posttraumatic, venous and diabetic ulcers, unresponsive to conservative or advanced dressing treatments, were counseled about the use of ESW as alternative treatment for their wounds. Thirty-two wounds were treated and 16 wounds healed completely within six sessions of ESW. In all of the nonhealed wounds, decrease of the amount of exudates, increased percentage of granulation tissue compared with fibrin/necrotic tissue and decrease of wounds' size were statistically significant after four to six sessions of ESW (p < 0.01). Significant decrease of pain was reported (p < 0.001). Comparison with a control group of 10 patients with chronic ulcer treated on the basis of regular dressings confirmed the statistical significant improvement in the healing process (p < 0.01). ESW therapy seems to be a safe, feasible and cost-effective treatment for chronic ulcers in the lower extremities. Further research and clinical trials are necessary to evaluate dose and time intervals of sessions to standardize a protocol of treatment in the management of chronic wounds.

The results of immediate re-repair of zone 1 and 2 primary flexor tendon repairs which rupture.

This study reports the outcome of immediate re-repair of primary flexor tendon repairs in zones 1 and 2 of the fingers which had ruptured. Between June 1989 and May 2003, a total of 62 fingers in 61 patients presented with ruptured flexor tendon repairs within 48 hours from rupture. Immediate re-repair and rehabilitation was carried out in 44 fingers (71%) in 43 (70%) patients. Thirty-six patients completed the 8-week therapy programme after re-repair in 37 fingers. Nine (24%) had excellent, 10 (27%) good, 5 (14%) fair and 13 (35%) had poor results when assessed by the original Strickland method. Five fingers in five patients ruptured the re-repair. Poor results and second ruptures were particularly common after re-repair of ruptured tendon repairs in the little finger. In the light of these findings, a policy for dealing with ruptured primary flexor tendon repairs in the fingers is suggested.

Squamous cell carcinoma of the lateral nail fold.

The digital nail complex is occasionally involved by squamous cell carcinoma. The published literature has either been indiscriminating of the site of origin of this tumour within the nail complex or has concentrated attention on the nail bed as the site of pathology. Tumours originating in the lateral nail fold can be clearly differentiated from those of the nail bed itself. This study identifies six cases of squamous cell carcinoma arising in the lateral nail fold. While surgical convention remains to amputate the digital tip for squamous cell carcinoma of any part of the nail complex, the dermatological literature identifies that local surgery can be curative for these tumours, when presenting early and without bone involvement, although offering no discussion of reconstruction. Reconstruction is desirable and methods of achieving this following local excision of lateral nail fold tumours are illustrated in this series.

Intravenous immunoglobulins and plasmapheresis combined treatment in patients with severe toxic epidermal necrolysis: preliminary report.

Toxic epidermal necrolysis (TEN) is an acute drug-induced life-threatening disorder characterised by extensive epidermal exfoliation and high rate of mortality. Between October 2000 and April 2003, five severe TEN patients were evaluated using a specific TEN severity-of-illness scale (SCORTEN) and treated for the first time, with a combined therapy using Intravenous Human Immunoglobulins (IVIG) and plasmapheresis. The standardised mortality ratio (SMR) analysis ([Sigma observed deaths/Sigma expected deaths]x100) was applied to establish how IVIG and plasmapheresis treatment could reduce TEN patient mortality. The observed mortality was one out of five patients corresponding to 20%. The expected mortality based on SCORTEN was 3.319 corresponding to 66%. The SMR analysis revealed a 70% reduction in mortality (SMR=0.30; 95% confidence interval, 0.0-0.96). Our series show a low mortality rate (20%) related to the severity of the patients (66% expected mortality). The use of IVIG in association with plasmapheresis has a rational basis and may be effective in severe TEN patients.

Anterior scoring of the upper helical cartilage as a refinement in aesthetic otoplasty.

BACKGROUND: Anterior scoring with the use of simple or dedicated instruments, toothed forceps, endoscopic carpal tunnel release instruments, and needles has been described previously. The upper third of the ear easily maintains the original shape because memory and elasticity are stronger than in the middle or the lower part of the ear. This report describes a further refinement to the Chong-Chet anterior scoring technique, consisting of anterior scoring of the upper helical cartilage to correct the helical radix upper prominence. METHODS: A retrospective study analyzed 20 surgeries for prominent ears. All the subjects had undergone otoplasty softening the helix. RESULTS: There were no residual ear prominence/upper third prominence or cartilage irregularities at the 1-year follow-up evaluation. Anterior auricular cartilage scoring is an effective technique for controlling the degree and position of the antihelical fold. Furthermore, the upper third of the pinna seems to have a stronger memory than the middle third. To prevent this late complication the authors routinely perform anterior scoring up to the helix, weakening that cartilage usually untouched with other procedures. CONCLUSION: This refinement, in combination with other procedures is safe, easy, and fast, giving reproducible and good aesthetic results.

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecular defect of 8.5, 7.9, and 15.1% of the WD chromosomes. However, molecular analysis of the WD chromosomes containing the most common haplotype, which accounts for 60.5% of the WD chromosomes, failed to define the disease-causing mutation. In this study, we characterized the promoter and the 5' UTR of the WD gene sequence and carried out a mutation analysis in this DNA region from patients with the most common haplotype. The promoter is contained in a GC-rich island and shows a TATA and a CAAT consensus sequence as well as potential binding sites for transcription factors and metal response elements. In all the analyzed 92 chromosomes with this haplotype, we detected a single mutation consisting of a 15-nt deletion from position -441 to position -427 relative to the translation start site. Expression assays demonstrated a 75% reduction in the transcriptional activity of the mutated sequence compared to the normal control. By adding this mutation to those that have been already characterized, we have now defined the molecular defect in 92% of the WD chromosomes in Sardinians. The high frequency, the expected prevention by preclinical diagnosis and early treatment of the devastating effect of WD on the nervous system and liver tissue, and the feasibility to detect most of molecular defects by DNA analysis indicate that WD in the Sardinian population should be added to the list of diseases currently detected by newborn screening.