"Proximal to distal" sequence of the release of the upper extremity post-burn contracture: Rule or case-based approach? / 中华创伤杂志(英文版)

Post-burn contractures are common entities seen in developing countries. There are multiple reasons for the development of contractures, most are preventable. In extensive contractures, a strategic plan is necessary to release all contractures and yet not antagonize post-operative positions. It is also necessary to be cost-effective and minimize the number of surgeries needed. Conventionally the release sequence in extensive burn contractures is proximal to distal. In this case report, we discuss an unusual sequence where we released distal contractures before the proximal to achieve optimum results. A 3-year-old child with post-burn contracture of hand, wrist, elbow, and axilla was treated in 2 stages, with the release of wrist contracture and cover with pedicled abdominal flap in the first stage and division of pedicled flap with the release of axilla and elbow contracture in the second stage. Thus, the release of all contractures was achieved without antagonizing post-operative positions and minimized the number of surgeries. A case-based approach may be crucial in making a strategic surgical plan to minimize the rehabilitation phase, rather than following known dictums.

Anesthesia in a child with arthrogryposis multiplex congenita – how to proceed: A case report

Arthrogryposis multiplex congenita (AMC) consists of a heterogenous group of disorders characterized by non-progressive congenital joint contractures. They have tense skin, minimal subcutaneous tissue, and muscle mass. The anesthetic management of these children is complicated by associated congenital abnormalities, airway anomalies, congenital heart disease, pulmonary hypoplasia, and vertebral anomalies. We managed a case of AMC with bilateral contractures of both upper and lower limb and neck who presented for correction of bilateral equino varus.

Artrogriposis múltiple congénita. Caso clínico

RESUMEN La artrogriposis múltiple congénita es una enfermedad de baja frecuencia, esporádica, no progresiva, que aparece en el período prenatal y se caracteriza por varias contracturas articulares presentes al nacimiento en los cuatro miembros. Se estima una incidencia de 1/10 000 nacidos vivos. El diagnóstico es posible al realizar los ultrasonidos en un feto que tiene posiciones viciosas y que no se mueve. La prevalencia de la artrogriposis múltiple congénita es variable, resultando la más frecuente la artrogriposis múltiple clásica (amioplasia), presente entre el 40 y el 50 % de los afectados. La búsqueda ultrasonográfica en el tercer trimestre del embarazo es fundamental con fines diagnósticos, para brindar asesoramiento genético y preparar un equipo para el nacimiento. Es importante tener sospecha diagnóstica para sugerir la vía alta por cesárea, para bienestar fetal. Un grupo multidisciplinario debe llevar a cabo el manejo y tratamiento de estos enfermos. Se presenta el caso de un neonato nacido a las 39 semanas por parto eutócico prolongado por presentación de cara, con sufrimiento fetal agudo, meconio ++++, apgar 5-7, con peso de 3 300 g, que presentó luxación y contractura generalizada de hombros, codos, así como de caderas, rodillas y tobillos, con dedos de manos y pies en flexión.

ABSTRACT Congenital multiple arthrogryposis is a low-frequency, sporadic, non-progressive disease that appears in the prenatal period, and is characterized by several contractures present at birth in the four limbs. The estimated incidence is 1/10 000 born alive. The diagnosis is possible performing ultrasounds on a fetus that has vicious positions and does not move. The prevalence of congenital multiple arthrogryposis is variable, being classical multiple arthrogryposis (amyoplasia) the most frequent one, present in between 40 and 50 % of the affected persons. Ultrasonographic search in the third semester of pregnancy is essential for diagnostic purposes to provide genetic counseling and to prepare a ream for birth. It is important to have diagnostic suspicion to suggest the high cesarean way for fetal well-being. A multidisciplinary group should carry out the management and treatment of these patients. The case of a newborn is presented, who was born at 39 weeks by prolonged eutocic delivery due to presenting face, with acute fetal suffering, meconium ++++, apgar 5-7, weighing 3 300 g, that presented luxation and general contracture of shoulders, elbows, and also hips, knees and ankles, with fingers and toes in flexion.

Early debridement with physiotherapy for prevention of postburn contracture of neck: a case series

Hypertrophic scars and contractures are well known sequelae after burns. They result in high morbidity in severely burned patients who are surviving. Present case study was done to establish the usefulness of early debridement and physiotherapy in preventing these sequelae. Present study was conducted on patients admitted in a tertiary care hospital on patients with alleged history of thermal burns to neck and upper chest over a period of 6 months. These patients were subjected to early debridement, daily dressings and early neck physiotherapy. They were assessed for neck mobility and development of neck contracture. Three patients were studied, two had a favourable outcome due to adherence to above measures while one developed contracture due to her late presentation and non-compliance to early physiotherapy. Post burn contractures are common sequelae of thermal burns involving the neck region. Early Debridement, daily dressing of the raw areas with starting of early neck physiotherapy are important and prove beneficial in preventing neck contractures with early return to normal daily activity.

Post burn neck contracture: an algorithm for choosing the ideal surgical method of management

Background: The aim of the study is to facilitate choosing the surgical technique that will be suitable for improving both function and aesthetics of each patient through this suggested algorithm system.  Any post burn neck contracture usually causes severe impairment of function and aesthetics, which causes serous psychological and social problems. That’s why it is very important to sub-categorize this type of deformity by anatomical location and cause of burn to allow choosing the ideal method of surgical management.Methods: This is a prospective study which was performed in Plastic Surgery Department, Menoufia University Hospitals over the period from March 2017 to March 2019. The study included 30 patients suffering post burn neck contracture deformities.Results: Patients were carefully examined, and the post burn neck deformities were analyzed according to age, condition of skin at the contracture site, the range of sternomastoid muscles movement at both sides of the neck and patient's general condition. Patients were given scores and categorized into 4 grades. And according to each patient's grade, the suitable surgical technique was chosen and fulfilled. 25 patients showed great satisfaction to their post operative’s outcomes and the rest were poorly satisfied.Conclusions: Application of patients with post burn neck contractures to this algorithm system will make it easy to choose the ideal method of management and gain the best surgical results possible when performing surgical correction.

Collagenase Clostridium Histolyticum Injection for Dupuytren Contracture: 2-Year Follow-up

BACKGROUND: Dupuytren disease is characterized by the development of palmar fibrous tissue that can lead to fixed flexion contracture (FFC) and contribute to functional loss of the involved digits. Our goal was to investigate rates of contracture resolution and recurrence in patients who underwent enzymatic fasciotomy for Dupuytren contracture consisting of collagenase clostridium histolyticum (CCH) injection followed by passive manipulation combined with splinting and home-based therapy. METHODS: We prospectively enrolled 34 patients (44 metacarpophalangeal [MCP] and 33 proximal interphalangeal [PIP] joints) treated by one orthopaedic hand surgeon between November 2010 and November 2014. On day 1, CCH was injected into a palpable fibrous cord of the involved fingers. The next day, the finger was passively extended to its maximal corrective position. FFC was measured for each joint before injection and immediately after manipulation. Patients were instructed to wear an extension splint at night and perform stretching exercises at home and were re-evaluated at 6 weeks, 4 months, 1 year, and 2 years. Resolution was defined as improvement of contracture to ≤ 5° of neutral. Recurrence was defined as an increase in FCC of ≥ 20° after treatment. RESULTS: Immediate contracture resolution occurred in 42 of 44 MCP joints (p < 0.001), improving from 50° to 1.5°, and in 14 of 33 PIP joints (p = 0.182), improving from 44° to 16°. Four joints had recurrence within 6 weeks. Of the 48 joints with minimum 4-month follow-up (mean, 26 months), 12 had recurrence at 2-year follow-up (MCP, 6; PIP, 6). At 2-year follow-up, MCP and PIP contractures measured 17° and 35.5°, respectively. Older age and multiple digit involvement were associated with higher recurrence rates. CONCLUSIONS: CCH offers a safe, nonoperative option to correct FCC in Dupuytren disease with greater success for MCP joints compared to PIP joints. There is a tendency of reoccurrence within 2 years of treatment. Further investigation is needed to determine optimal timing of repeat CCH injection to improve upon or extend the period of contracture resolution.

Establishing a rabbit model of knee joint extension contracture / 中华物理医学与康复杂志

Objective To establish a model of knee joint extension contracture in New Zealand white rab-bits, and to lay the experimental foundation for further studies on the pathogenesis and treatment of joint contractures. Methods Thirty male New Zealand white rabbits with mature bones were randomly divided into 6 groups. The left knee joints of the immobilization groups ( 5 groups of 5 rats each) were fixed in extension for 1, 2, 4, 6 or 8 weeks. There was also a control group. At the end of each period the plaster was demolished and the level of transforming growth factor-β1 ( TGF-β1) in joint cavities, the degree of total contracture, myogenic contracture, arthrogenic con-tracture, and the thickness of the posterior joint capsules were measured. The significance of the differences between the immobilized groups and the control group was compared using one-way analysis. Results The level of TGF-β1 in the joint fluid differed significantly among the 6 groups. The differences in the degree of total contracture among the control group, one-week, two-week and four-week groups were also significant. The average degree of the myogenic contracture in the one-week group was significantly different from the other 5 groups' averages. The average myogenic contracture was also of significantly different between the two-week group and the control group. The degree of arthro-genic contracture was significantly different among the groups except for between the 6-week and 8-week groups. The average joint capsule thickness was significantly different among all of the groups except for between the control group and the one-week group. Conclusion This technique for modeling knee extending contracture using New Zealand white rabbits is simple and practical. It provides a better animal model for studying the mechanism of knee joint con-tracture and related treatment strategies and can be used for further exploration of the occurrence and recovery of knee contractures.

Artrogriposis en un hospital de alta complejidad de Pereira, Colombia / Arthrogryposis in a high complexity hospital in Pereira city, Colombia

La artrogriposis es un hallazgo clínico poco común, consistente en contracturas articulares congénitas, no progresivas, que pueden asociarse a otras entidades clínicas, afectando a 1 de cada 3000 nacidos vivos. Se presenta el caso de un paciente masculino de 29 años atendido en un hospital de alta complejidad de Pereira, diagnosticado al año de edad con artrogriposis. Ninguna especialidad se hizo cargo del manejo integral de paciente, en lugar de fisioterapia y ortesis durante su crecimiento osteomuscular, se realizaron más de 14 intervenciones quirúrgicas a la fecha. Actualmente presenta limitación funcional articular, atrofia muscular generalizada, fibrilación auricular, degeneración mixomatosa de la válvula mitral, estado de ánimo crónicamente disminuido y pobre inclusión social y laboral. Se pretende orientar el manejo adecuado de estos casos, para que pacientes con artrogriposis puedan ser diagnosticados y tratados oportunamente, y ser parte integral de la sociedad.

Arthrogryposis is a rare clinical finding that consists in not progressive, congenital joint contractures that can be associated with other clinical entities, affecting 1 in 3000 live births. It is presented the case of a male patient aged 29, treated at a high complexity hospital in Pereira city, diagnosed a year old, as arthrogryposis. No medical specialty took full patient management. Instead of physiotherapy and splinting during his musculoskeletal growth, it was performed more than 14 surgeries to date. Currently has a joint functional limitation, generalized muscle atrophy, significant atrial fibrillation, myxomatous degeneration of the mitral valve, chronically decreased mood and poor social and occupational inclusion. This article aims to guide the appropriate management of these cases, for patients with Artrogriposis may be diagnosed and treated promptly, and be an integral part of society.

Evaluación del efecto del Compvit-B sobre la neuropatía periférica en pacientes con SCA2 en estadio ligero de la enfermedad / Evaluation of the effect of Compvit-B on peripheral neuropathy in patients with mild SCA2

INTRODUCCIÓN: la Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa severa que representa un serio problema de salud en Cuba, debido a las altas tasas de prevalencia e incidencia y a la ausencia de tratamientos curativos. OBJETIVOS: evaluar el efecto y la seguridad del tratamiento con altas dosis de vitaminas del complejo B (Compvit-B) sobre la neuropatía periférica en pacientes con SCA2. MÉTODOS: se realizó una investigación prospectiva de intervención clínica en 20 enfermos en estadio ligero los que se sometieron a un protocolo terapéutico mediante la administración intramuscular del COMPVIT B por 12 semanas. Durante las primeras 4 semanas los individuos recibieron dos bulbos semanales y a partir de la 5tasemana un solo bulbo. Inmediatamente antes y después del tratamiento los pacientes fueron evaluados mediantes exámenes clínicos y electrofisiológicos. RESULTADOS: una vez concluido el tratamiento, los pacientes mostraron un aumento significativo de las amplitudes de los potenciales de acción sensitivos de nervios mediano y sural, y en este último nervio se observó además reducción de la latencia y aumento de la velocidad de conducción. Los parámetros de la conducción nerviosa motora no se modificaron. Los potenciales evocados somatosensoriales de nervio mediano arrojaron una reducción significativa de la latencia del potencial de Erb. De manera interesante se observó una la disminución significativa de la frecuencia de aparición de las contracturas musculares dolorosas en el 53% de los casos después del tratamiento. Durante el estudio no se registraron eventos adversos. CONCLUSIONES: el presente estudio identifica una nueva opción terapéutica sintomática en la SCA2, brinda nuevas evidencias sobre las bases fisiopatológicas y el manejo clínico de las contracturas musculares dolorosas y justifican la realización de estudios más amplios en pacientes y portadores de la mutación, los que presentan tales manifestaciones muchos antes de debutar con la ataxia.

INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a severe neurodegenerative disease which constitutes a serious health problem in Cuba due to its high prevalence and incidence rates and the lack of curative treatments. OBJECTIVES: Evaluate the effect and safety of the treatment with high doses of B-complex vitamins (Compvit-B) on peripheral neuropathy in patients with SCA2. METHODS: A prospective clinical intervention study was conducted of 20 patients in the mild stage of the disease undergoing a therapeutic protocol consisting in intramuscular injection of Compvit-B for 12 weeks. Patients were administered two ampoules weekly in the first 4 weeks and one from the fifth week onwards. Immediately before and after the treatment patients underwent clinical and electrophysiological examination. RESULTS: Upon completion of the treatment patients showed a significant increase in the amplitude of the sensitive action potentials of the median and sural nerves. In the latter case there was also a decrease in latency and an increase in conduction velocity. Motor nerve conduction parameters were not modified. Somatosensory evoked potentials of the median nerve showed a significant reduction in the latency of Erb's potential. A significant decrease was also found in the frequency of painful muscle contractures in 53% of the cases after treatment. Adverse events were not recorded during the study. CONCLUSIONS: The study identifies a new therapeutic option for symptomatic SCA2, and provides new evidence of the pathophysiological bases and clinical management of painful muscle contractures. Broader studies should be conducted with patients and carriers of the mutation, who typically present such manifestations long before developing ataxia.

Evaluación preliminar del efecto del Compvit-B sobre procesos de memoria y aprendizaje en pacientes con SCA2 / Preliminary evaluation of the effect of Compvit-B on memory and learning processes in patients with SCA2

INTRODUCCIÓN: la ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa que alcanza las mayores tasas de prevalencia e incidencia en Holguín, Cuba. Una de las principales manifestaciones clínicas de estos pacientes son los trastornos cognitivos, expresados fundamentalmente como déficits frontoejecutivos y de la memoria. OBJETIVO: evaluar el efecto del tratamiento con vitaminas del Complejo B sobre las funciones cognitivas, en pacientes cubanos con SCA2. MÉTODOS: se incluyeron 20 pacientes en una investigación de intervención clínica, empleando COMPVIT-B, durante 3 meses. Se evaluaron parámetros clínicos, como la escala SARA y cognitivos como el test de Stroop, el test de Fluencia verbal fonológica y el test de memoria verbal. Todos los estudios se realizaron antes y después del tratamiento. RESULTADOS: el estudio de las funciones frontoejecutivas reveló un aumento significativo del número de palabras mencionadas en el test de fluencia verbal fonológica, al terminar el estudio. Sin embargo, el test de Stroop no mostró cambios significativos. En relación al test de memoria verbal, se obtuvo un aumento del número de palabras recordadas en el primer ensayo, así como reducción del número de ensayos requeridos para recordar todas las palabras. La puntuación de la escala SARA no cambió significativamente. CONCLUSIONES: el presente trabajo constituye una evidencia adicional en favor del uso terapéutico y neuroprotector de las vitaminas del complejo B e identifica una nueva opción de tratamiento sintomatológico para los enfermos con SCA2, lo que incide positivamente en el mejoramiento de la calidad de vida de estos pacientes.

INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease with the highest prevalence and incidence rates in the province of Holguín, Cuba. One of its main clinical manifestations is cognitive disorders, fundamentally expressed as frontal-executive and memory deficits. OBJECTIVE: Evaluate the effect of B-complex vitamins on cognitive functions in Cuban patients with SCA2. METHODS: Twenty patients were included in a clinical intervention study based on the use of Compvit-B for 3 months. An evaluation was conducted of clinical parameters such as the Scale for the Assessment and Rating of Ataxia (SARA), and cognitive parameters like the Stroop test, the phonological verbal fluency test and the verbal memory test. All the studies were conducted before and after the treatment. RESULTS: The study of frontal-executive functions revealed a significant increase in the number of words mentioned in the phonological verbal fluency test at the end of the study. However, the Stroop test did not show any significant change. The verbal memory test showed an increase in the number of words recalled in the first assay, and a reduction in the number of assays required to recall all the words. Scores on the SARA did not change significantly. CONCLUSIONS: The paper provides additional evidence in support of the therapeutic and neuroprotective use of B-complex vitamins and presents a new option of symptomatic treatment for patients with SCA2, which will lead to an improvement in their quality of life.

Peripheral Transluminal Angioplasty for Limb Salvage in Critical Limb Ischemia in an Old Cerebral Infarction with Multiple Contractures / 대한내과학회지

Percutaneous transluminal angioplasty is being used to treat peripheral artery disease increasingly in place of conventional peripheral vascular surgery. Critical limb ischemia is the most severe form of peripheral artery disease and presents with ischemic resting pain and non-healing foot wounds or gangrene. It can result in amputation and increased mortality if aggressive revascularization to obtain sufficient blood is not performed as soon as possible. Generally, both femoral arteries are used for vascular access. However, we could not use the femoral artery for vascular access in a patient with multiple contractures of the extremities due to an old cerebral infarction. Consequently, we used the left brachial artery to perform successful revascularization of the left foot in critical limb ischemia.

An uncommon variant of rare type of muscular dystrophy.

The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.

A family with autosomal dominant Emery-Dreifuss muscular dystrophy and literature review / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation of a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).Methods Clinical data of the proband and her family members,a Chinese family of AD-EDMD,were collected.Skeletal muscle specimens were collected from the proband for pathological analysis.Genomic DNA from the proband and her parents was extracted using standard procedures from the peripheral blood leukocytes.PCR and DNA direct sequencing were employed to analyze all of the 12 exons of the LMNA gene to determine the gene mutation,and the case was summarized along with related literature review.Results The proband,female,4 years and 5 months old now,presented with muscle weakness during her early childhood,the proximally was more prominent,mild pectus excavatum.Her CK level was elevated,her electromyogram showed myogenic injuries,the muscle biopsy showed myopathy changes.Her father had the same symptom,with disease progressed,showed elbow contractures in early stage,stiff neck,tight achilles tendon,slowly progressive muscle weakness of the limbs,sinus bradycardia.A heterozygous missense mutation c.1580G ＞ C (p.Arg527Pro) was identified in exon 9 of the LMNA gene in the proband and her father,but not in her mother.This heterozygous missense mutation had been reported as a pathogenic gene mutation.Conclusions The patient who has elbow contractures in early stage,limited neck flexion,spine stiffness,muscle weakness with the proximal upper limbs and distal lower limbs,and arrhythmia,should have an analysis of the LMNA gene.It's important for the early diagnosis of EDMD,assessment of the prognosis,timely and effectively monitoring the changes of arrhythmia,then taking interventions to improve the quality of life and prolong life.So genetic analysis is most reliable method to diagnose EDMD.

Clinical Experience of Matriderm(R) with Autologous Skin Graft in Full Thickness Burns

PURPOSE: The various skin substitutes for the reconstruction of full thickness skin defects after burn or excision of burn scars have been reported to reduce donor site morbidity and skin durability after skin graft. Last a decade, many skin substitutes have been frequently used for this purpose. Recently as one of dermal templates, Matriderm(R) (Dr. Suwelack Skin and Health Care AG, Billerbeck, Germany), a elastin-collagen complex, has been introduced. We present clinical experiences using Matriderm(R) for reconstruction of skin defects after burn. METHODS: We have experienced 8 cases of reconstruction of the full thickness skin defects of the acute burn wounds or burn scar contractures using Matriderm(R) in 6 patients. After insetting this dermal templates on the skin defects sites, simultaneously 8~12/1000 inch split-thickness skin grafts were over-grafted immediately. The rate of graft engraftment, appearance, rate of contractures, durability and sensibility of grafted area have been observed. RESULTS: The skin defects on face, hand, extremities were reconstructed and it's size were varied from 2x2 cm2 up to 8x2 cm2. The follow-ups varied between 4 months and 1.4 years. The rate of engraftment of Matriderm(R) site was mean 97.2% and it was relatively successful. The rates of contractures of graft site were ranged from 8 to 59.4%. In case of postburn scar contractures of lower lid, severe contractures was noted. After long follow ups, there were reduced sensation, no sweating on grafted area of Matriderm(R) sites. At post operative 6 weeks, on microscopic examination of H/E stain, thick fibrosis, fragmentation of foreign materials, and on Masson's trichrome stain, dermal sclerosis were shown, and no skin appendage structures was noted. After long follow ups, the appearance, pliability and durability of the grafted area showed relatively good. But sensory return was incomplete. By using relatively thin STSG, the morbidity of donor site could be reduced. CONCLUSION: In the cases of reconstruction of postburn skin defects due to burn and after release of burn scar contractures, we have used a dermal templates, Matriderm(R), and simultaneously relatively thin STSG have been done. After follow ups, Matriderm(R) site showed in good results in terms of the engraftment, pliability and durability. Further studies for clinical use should be imperative.

Contractura axilar por quemadura tratada con Integra® / Axillary burn contracture treated with Integra®

Introduction: Severe axillary burn is an unusual accident that frequently evolves to contracture generating important cosmetic and functional deficiencies. Contracture scars in this region are difficult to treat because of the anatomic characteristics of the area that has multiple power vectors. Functional restoration has to be one of the main goals in the management of burns in the axilla and flaps have shown high rate of morbidity. Integra® provides satisfactory elasticity and dermal resistance which results in positive functional results. Objective: Analyze the results of the use of Integra® in axillary burn contracture scars at a specialized Burns Center. Materials and Methods: There were 4 patients who underwent reconstructive surgery using Integra® for axillary burn contractures between January 2002 and March 2006. Follow-up was divided into perioperative and late. Early follow-up checked general post-operative evolution and late follow-up was focused on functionality and patient independence evaluated using Barthel's index of daily living activities. Results: There were 3 males and 1 female, average age 27 (18-41) with a minimum follow up of 9 months. There were no perioperative complications and good or very good range of motion results. Conclusions: Our results are similar to artificial skin substitutes used in other anatomical regions.

Las quemaduras axilares severas son un accidente infrecuente que evolucionan a la retracción generando deficiencias cosméticas y funcionales. Estas cicatrices son difíciles de tratar por las características anatómicas del área, donde la corrección de un vector de movimiento puede alterar otro. Objetivo: Mostrar nuestros resultados utilizando el sustituto cutáneo Integra® en el tratamiento de cicatrices retráctiles axilares por quemadura. Pacientes y Métodos: Se recolectaron antecedentes médicos y fotográficos de pacientes portadores de cicatrices retráctiles axilares por quemadura entre enero de 2002 y marzo de 2006 en el Hospital del Trabajador de Santiago. Se evaluó pre y postoperatoriamente a los pacientes en forma subjetiva por fisiatra y con el Test de Barthel. Resultados: Se incluyeron 4 pacientes en el estudio (3 mujeres y 1 hombre), edad media 27 años (18-41). Todas las quemaduras fueron producidas por fuego. Índice de Barthel preoperatorio fue de 87,5 (levemente dependiente para las actividades de la vida diaria) y rango de movimiento moderadamente afectado. En el postoperatorio los pacientes fueron catalogados como independientes según el Test de Barthel y el rango de movimiento fue descrito como bueno o muy bueno por el fisiatra. No hubo complicaciones peri operatorias, Integra® prendió adecuadamente en todos los casos. Los pacientes fueron seguidos en promedio 16 meses (9-22). Conclusiones: Los sustitutos dérmicos han sido usados para la corrección de cicatrices de quemaduras con buenos resultados, pero no hay reportes en la axila. El pequeño número de pacientes que presentamos tienen un excelente resultado funcional, lo que nos estimula a seguir trabajando en este rumbo.

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause secondary deficiencies in other proteins, due to the instability of the dystrophin-glycoprotein complex. Therefore, determining the etiology of a given sarcoglycanopathy requires costly and occasionally inaccessible molecular methods. OBJECTIVE: The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology - HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: The patients were divided into the following groups based on the immunohistochemical findings: a-sarcoglycanopathies (16 patients), b-sarcoglycanopathies (1 patient), y-sarcoglycanopathies (5 patients), and nonsarcoglycanopathies (23 patients). The muscle strength analysis revealed significant differences for both upper and lower limb muscles, particularly the shoulder and hip muscles, as expected. No pattern of joint contractures was found among the four groups analyzed, even within the same family. However, a high frequency of tiptoe gait was observed in patients with a-sarcoglycanopathies, while calf pseudo-hypertrophy was most common in patients with non-sarcoglycanopathies. The a-sarcoglycanopathy patients presented with more severe muscle weakness than did y-sarcoglycanopathy patients. CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.

The conclusion of several kinds of flaps treated to the first web contraction / 中华显微外科杂志

Objective To summarize the result of several kinds of flaps treated to first web space contraction. Methods Thirty-two cases of sever contracture of the first web space were treated between September 2000 and March 2009. Ultrathin groin flap, blood vessel pedicle reverse-flow island flap, neurocutaneous flap of the forearm, and free skin flap were used. The area of flaps were 3.0 cm × 5.0 cm-4.5 cm× 8.0 cm.The therapeutic result was observed by 3-12 months follow-up. Results There were partial necrosis at the distal part of flap in 1 case of nerve nutritional vascular pedicle skin flap and 1 case of ultrathin groin flap.The raw surface was healed by free skin grafting. The other flaps were all survived. There was some contraction observed in some patients after the K-wire released. The width of the first web space was augmented to an average of 50 mm (35-60 mm) and account to 80% to the uninjured side. The angle of the first web space was increased to an average of 70°(45°-80°). The contracture was improved significantly. The abduction and opposition function of thumb were restored. There was some degree decrease of grasp strength. The patients can fulfil daily life and partial work. But sensation was not good in some patients. The contour of the flaps:the contour of ultrathin groin flap was good. The contour of flaps in 3 cases of island skin flaps, 1 case of nerve nutritional vascular pedicle skin flap and 2 cases of free flaps were trimmed again in order to be improved. Conclusion The sever contracture of the first web space could be treated by different kinds of flaps, the suitable management should be chosen according to the specific situation.

Prediction of difficult intubation in patients with postburn sternomental contractures: modified onah class / 대한마취과학회지

BACKGROUND: Postburn sternomental contractures cause various changes in mouth, oral cavity, pharynx, larynx and related structures. Although there are many methods to predict difficult intubation, the modified Mallampati test (mMT) and the El-Ganzouri multivariate risk index (EGRI) are popular tests. The authors wanted to compare modified Onah class with these 2 tests and also explored the possibility that Onah class could be an adequate independent predictor for difficult intubation. METHODS: One hundred and nine patients, aged 18 to 60 years of age, scheduled for elective surgery for reconstruction of postburn sternomental contractures were divided according to the modified Onah class. We made assessments prior to general anesthesia with respect to mouth opening, thyromental distance, mMT, neck movement, ability to prognath, body weight, and history of difficult tracheal intubation. The accuracy, specificity, positive and negative predictive values were calculated from the data of the 3 tests, and as the 3 tests were compared with patient's laryngoscopic view grade according to Cormack and Lehane criteria by using the Chi-square test. RESULTS: The incidence of Cormack and Lehane grade III, IV was 39.4%. Onah class showed significantly higher accuracy, specificity, and positive predictive value than mMT and EGRI. There were significant correlations between modified Onah class 2b, 3 and the Cormack and Lehane grade III, IV. CONCLUSIONS: Application of modified Onah class for preoperative prediction of the degree of difficulty with laryngeal visualization can reduce the frequency of both an unanticipated failure to visualize laryngeal structures as well as potential unnecessary interventions related to over-prediction of airway difficulty in patients with postburn sternomental contractures.

Distal arthrogryposis syndrome.

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

A case of restrictive dermopathy / 소아과

Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.