Escoliosis y síndrome de Prader-Willi: a propósito de 5 casos intervenidos quirúrgicamente

OBJETIVO: Analizar los resultados y las complicaciones del tratamiento quirúrgico de la escoliosis, en pacientes portadores del Síndrome de Prader-Willi, para verificar si se justifica este tipo de tratamiento. MÉTODOS: Análisis retrospectivo de las fichas clínicas y radiografías de los cinco pacientes portadores del Síndrome de Prader-Willi que consultaron en el Departamento de Escoliosis entre los años 2005 y 2010, y fueron operados. RESULTADOS: La edad de la consulta inicial fue en promedio 3,6 años; el promedio de escoliosis fue 61º, el que aumentó a 65º al momento de la cirugía. El promedio de operaciones realizadas fue 2,8 por paciente, lográndose una corrección promedio de 35%. Los motivos de las reintervenciones fueron pérdida de corrección en 4 casos (28,5%), aflojamiento de ganchos en 2 (14,3%) y xifosis referente a la instrumentación en uno (7,1%) No hubo complicaciones graves. CONCLUSIONES: Aún cuando la literatura muestra autores poco proclives a indicar cirugía en este tipo de pacientes, por la elevada tasa de complicaciones graves, la ausencia de ellas en nuestro medio hace mantener válidos los mismos criterios quirúrgicos que en escoliosis idiopática.OBJETIVO: Analisar os resultados e as complicações do tratamento cirúrgico da escoliose em pacientes com síndrome de Prader-Willi para verificar se esse tipo de tratamento é justificado. MÉTODOS: Análise retrospectiva dos prontuários clínicos e das radiografias dos cinco pacientes portadores de síndrome de Prader-Willi tratados cirurgicamente no Departamento de Escoliose entre 2005 e 2010. RESULTADOS: A média de idade dos pacientes na consulta inicial foi 3,6 anos. A média de escoliose foi 61º, a qual tinha aumentado para 65º na ocasião da cirurgia. A média de cirurgias realizadas foi 2,8 por paciente, atingindo-se correção média de 35%. Os motivos das re-intervenções foram perda de correção em quatro casos (28,5%), afrouxamento dos ganchos em dois (14,3%) e cifose depois da instrumentação em um caso (7,1%). Não foram verificadas complicações graves. CONCLUSÕES: Mesmo que a literatura mostre autores pouco inclinados a indicar cirurgia nesse tipo de pacientes, por causa da elevada taxa de complicações graves, a ausência dessas complicações em nossa prática valida os mesmos critérios cirúrgicos da escoliose idiopática.OBJECTIVE: Analyze the results and complications of scoliosis surgery in patients with Prader-Willi syndrome to verify if this kind of treatment is justified. METHODS: Retrospective analysis of clinical records and radiographs of five patients with Prader-Willi syndrome treated at the Department of Scoliosis between 2005 and 2010. RESULTS: The average age of patients at the first visit was 3.6 years. The average scoliosis was 61°, which increased to 65° at the time of surgery. The average number of surgeries performed per patient was 2.8, reaching an average correction of 35%. The reasons for re-interventions were correction loss in 4 cases (28.5%), loosening of hooks in two cases (14.3%), and kyphosis after instrumentation in one case (7.1%). There were no serious complications. CONCLUSIONS: Even though the literature shows authors unwilling to indicate surgery in such patients because of the high rate of severe complications, the absence of these complications in our practice validates the use of the same surgical criteria of idiopathic scoliosis

Relationship between a Novel Polymorphism of the C5L2 Gene and Coronary Artery Disease

C5L2 has been demonstrated to be a functional receptor of acylation-stimulating protein (ASP), which is a stimulator of triglyceride synthesis or glucose transport. However, little is known about the variations in the coding region of the C5L2 gene and their association with coronary artery disease (CAD). = 0.047, OR = 2.602, 95% CI: 1.015–6.671).The 698CT genotype of C5L2 may be a genetic maker of CAD in the Han and Uygur population in western China

Scoliosis in patients with Prader Willi Syndrome – comparisons of conservative and surgical treatment

In children with Prader Willi syndrome (PWS), besides growth hormone (GH) therapy, control of the food environment and regular exercise, surgical treatment of scoliosis deformities seems the treatment of choice, even though the risks of spinal surgery in this specific population is very high. Therefore the question arises as to whether the risks of spinal surgery outweigh the benefits in a condition, which bears significant risks per se. The purpose of this systematic review of the Pub Med literature was to find mid or long-term results of spinal fusion surgery in patients with PWS, and to present the conservative treatment in a case study of nine patients with this condition

Prader-Willi syndrome: A primer for clinicians

The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances in hormone replacement therapy, particularly growth hormone children born in circumstances where therapy is available are expected to have an improved quality of life as compared to those born prior to growth hormone

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood

Pathogenesis of adolescent idiopathic scoliosis in girls - a double neuro-osseous theory involving disharmony between two nervous systems, somatic and autonomic expressed in the spine and trunk: possible dependency on sympathetic nervous system and hormones with implications for medical therapy

Anthropometric data from three groups of adolescent girls - preoperative adolescent idiopathic scoliosis (AIS), screened for scoliosis and normals were analysed by comparing skeletal data between higher and lower body mass index subsets. Unexpected findings for each of skeletal maturation, asymmetries and overgrowth are not explained by prevailing theories of AIS pathogenesis. A speculative pathogenetic theory for girls is formulated after surveying evidence including: (1) the thoracospinal concept for right thoracic AIS in girls; (2) the new neuroskeletal biology relating the sympathetic nervous system to bone formation/resorption and bone growth; (3) white adipose tissue storing triglycerides and the adiposity hormone leptin which functions as satiety hormone and sentinel of energy balance to the hypothalamus for long-term adiposity; and (4) central leptin resistance in obesity and possibly in healthy females. The new theory states that AIS in girls results from developmental disharmony expressed in spine and trunk between autonomic and somatic nervous systems. The autonomic component of this double neuro-osseous theory for AIS pathogenesis in girls involves selectively increased sensitivity of the hypothalamus to circulating leptin (genetically-determined up-regulation possibly involving inhibitory or sensitizing intracellular molecules, such as SOC3, PTP-1B and SH2B1 respectively), with asymmetry as an adverse response (hormesis); this asymmetry is routed bilaterally via the sympathetic nervous system to the growing axial skeleton where it may initiate the scoliosis deformity (leptin-hypothalamic-sympathetic nervous system concept = LHS concept). In some younger preoperative AIS girls, the hypothalamic up-regulation to circulating leptin also involves the somatotropic (growth hormone/IGF) axis which exaggerates the sympathetically-induced asymmetric skeletal effects and contributes to curve progression, a concept with therapeutic implications. In the somatic nervous system, dysfunction of a postural mechanism involving the CNS body schema fails to control, or may induce, the spinal deformity of AIS in girls (escalator concept). Biomechanical factors affecting ribs and/or vertebrae and spinal cord during growth may localize AIS to the thoracic spine and contribute to sagittal spinal shape alterations. The developmental disharmony in spine and trunk is compounded by any osteopenia, biomechanical spinal growth modulation, disc degeneration and platelet calmodulin dysfunction. Methods for testing the theory are outlined. Implications are discussed for neuroendocrine dysfunctions, osteopontin, sympathoactivation, medical therapy, Rett and Prader-Willi syndromes, infantile idiopathic scoliosis, and human evolution. AIS pathogenesis in girls is predicated on two putative normal mechanisms involved in trunk growth, each acquired in evolution and unique to humans