Long-Term Health-Related Quality of Life (QOL) after Paediatric Spinal Deformity Surgery and Comparison with the General Population.

QOL questionnaires assess patients' perception on surgical outcomes. We reviewed 1354 patients with spinal deformity. Four hundred and twenty-eight patients had >10 years of follow-up. The SRS-22r questionnaire was completed before surgery, at 6/12/24 months, 5-10 years and >10 years postoperatively. Patients with >10 years of follow-up completed the EQ-5D VAS/index and the VAS for back/leg pain. We used QOL data reporting in the general population of 20-29 and 30-39 years of age to compare against our patient cohort. Among the patients, 993 had AIS, 80 congenital scoliosis, 102 syndromic or secondary scoliosis, 105 Scheuermann kyphosis and 40 low-grade and 34 high-grade spondylolisthesis. SRS-22r total and domain scores improved from preoperative to follow-up in all diagnosis categories. At >10 years after surgery, patients with congenital scoliosis and Scheuermann kyphosis had better SRS-22r total/domain and EQ-5D (index/VAS) scores along with lower VAS back/leg pain scores compared to the other groups. Patients with congenital scoliosis and Scheuermann kyphosis had comparable SRS-22r total/domain, EQ-5D (index/VAS) and VAS back/leg pain scores to the general population in the 20-29 year category and better scores than the 30-39 year group. Patients with AIS, syndromic/secondary scoliosis and low/high-grade spondylolisthesis had reduced SRS-22r total/domain and EQ-5D (index/VAS) scores and higher VAS back/leg pain scores compared to the 20-29 year group but comparable scores to the 30-39 year group. Patients with spinal deformity reported improved QOL and high satisfaction after surgery which was maintained at >10 years of follow-up. Patients with congenital scoliosis and Scheuermann kyphosis had better QOL outcomes (comparable to the general population of similar age) as opposed to other types of scoliosis or lumbosacral spondylolisthesis.

Effectiveness of the Boston Brace in the Treatment of Paediatric Scoliosis: A Longitudinal Study from 2010-2020 in a National Spinal Centre.

Bracing can reduce curve progression in order to prevent or delay scoliosis surgery in growing children. Brace treatment is effective in adolescent idiopathic scoliosis (AIS), but there is less evidence of its efficacy in early-onset or non-idiopathic scoliosis. We assessed the outcome of bracing at the end point of treatment, including the patients' perception of clinical results. We reviewed 480 patients treated using Boston brace from 2010-2020 (70% female); 249 patients completed bracing (52%) and 118 patients (47.4%) did not require surgery, with 83% having idiopathic scoliosis. Brace success was considered scoliosis below 50° at the end of bracing, with the patient skeletally mature. A total of 131 patients required scoliosis surgery after bracing (64% had idiopathic scoliosis; adolescents 57% and juveniles 43%). All patients had a minimum two-year follow-up after bracing or after scoliosis correction, with the quality of life assessment questionnaires. A total of 98 out of 182 patients with idiopathic scoliosis did not require surgery (54%). Thoracic scoliosis improved with bracing by a mean of 3.4° and thoracolumbar/lumbar scoliosis by a mean of 6.8°. A total of 85 patients with AIS (64%) but only 9 patients with JIS (20%) did not need surgery. In the AIS group, 97 patients had scoliosis of 20-40°; 71 of these patients (73.2%) did not require scoliosis correction at the end of bracing. In total, 84 patients with idiopathic scoliosis had surgery at a mean of 14 years (surgery was delayed by a mean of 3.2 years). In total, 20 of 67 patients with non-idiopathic scoliosis did not need surgery (30%). Thoracic scoliosis improved with bracing by a mean of 8.4° and thoracolumbar/lumbar scoliosis by a mean of 0.8°. A total of 47 patients with non-idiopathic scoliosis required surgery at a mean of 13.1 years (surgery was delayed by a mean of 5.2 years). Multivariate regression analysis showed that idiopathic scoliosis, AIS, closed triradiate cartilage, post-menarche status, higher Risser grade and smaller scoliosis angle at initial presentation predicted brace success. Patients reported good function and self-image, reduced pain and high satisfaction after treatment in both the bracing-only and the bracing followed by surgery groups.

Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015 / Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data

INTRODUCCIÓN: El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un Registro online de pacientes para optimizar su cuidado. OBJETIVO: Conocer las características y la evolución de los pacientes españoles con SHCC y detectar áreas de mejora. MATERIALES Y MÉTODO: Se analizaron los datos actualizados en diciembre del 2015 de los pacientes españoles del Registro europeo. RESULTADOS: Se registró a 38 pacientes, nacidos entre 1987 y 2013, procedentes de 18 hospitales. El 34,2% eran mayores de 18 años. Han fallecido 3 pacientes. Aportaban estudio del gen PHOX2B 37 (97,3%), 32 (86,5%) con mutación. Los genotipos 20/25, 20/26 y 20/27 representaron el 84,3% de las mutaciones. Las disautonomías fueron más frecuentes y graves en portadores de genotipos con mayores expansiones de polialaninas. El 47% de pacientes asociaba alteraciones oculares, el 16% Hirschsprung, el 13% hipoglucemias y el 5% tumores. Treinta pacientes (79%) debutaron en el periodo neonatal y 8 (21%) posteriormente (inicio/diagnóstico tardío). Ocho niños (21%) recibieron inicialmente ventilación domiciliaria con mascarilla; 5 eran lactantes con comienzo neonatal, 2 de ellos precisaron cambio a traqueostomía tras presentar parada cardiorrespiratoria; ambos tenían mutaciones graves. Han sido decanulados y transferidos a mascarilla el 34,3% de los pacientes (edad media: 13,7 años). El 29,4% de los niños escolarizados precisaron refuerzo educativo. CONCLUSIÓN: La implementación del Registro en España de pacientes con SHCC ha permitido identificar aspectos relevantes para optimizar sus cuidados, tales como la importancia del estudio genético para el diagnóstico y la estimación de gravedad, la frecuencia elevada de alteraciones oculares y de necesidad de refuerzo educativo, y algunas limitaciones de las técnicas ventilatorias

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. RESULTS: The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. CONCLUSION: The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]. / Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. RESULTS: The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. CONCLUSION: The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.

Pediatric crushing head injury: biomechanics and clinical features of an uncommon type of craniocerebral trauma.

BACKGROUND: Head injuries constitute one of the leading causes of pediatric morbidity and mortality. Most injuries result from accidents involving an acceleration/deceleration mechanism. However, a special type of head injury occurs when the children sustain a traumatism whose main component is a static load in relation to a crushing mechanism with the head relatively immobile. PATIENTS AND METHODS: We report a series of children who sustained a craniocerebral injury of variable severity produced by head crushing. We also analyze epidemiological and clinical data, and biomechanics in these injuries. RESULTS: Mean age of the group (13 boys/6 girls) was 4.1 years. All patients showed external lesions (scalp wounds or hemorrhage from the nose, ears, or throat). Eleven children were initially unconscious. Six children presented cranial nerve deficits in addition to impaired hearing. Skull base fractures were seen in most cases with extension to the vault in 11 instances. Fourteen patients had an associated intracranial lesion, including two with diffuse axonal injury. Surgery was performed in three instances. Only seven patients were left with sequelae. DISCUSSION AND CONCLUSIONS: The observed skull, brain, and cranial nerve lesions corresponded to a mechanism of bilateral compression of the children's heads mainly occasioned by a static load, although an associated component of dynamic forces was also involved. The skull and its covering and the cranial nerves were the most severely affected structures while the brain seemed to be relatively well preserved. Most crush injuries appear to be preventable by the appropriate supervision of the children.

Keeping CSF valve function with urokinase in children with intra-ventricular haemorrhage and CSF shunts.

BACKGROUND: Intra-ventricular haemorrhage (IVH) can occur spontaneously or during the surgical revision of ventricular cerebrospinal fluid (CSF) shunts. AIM: The aim of the study was to report the safety and efficacy of an original method for treatment of IVH that may occur at the time of valve revision aimed at maintaining the function of previously implanted CSF shunts. PATIENTS AND METHODS: We reviewed the medical records of six patients who experienced an IVH in the presence of a previously placed ventriculoperitoneal (VP) shunt. Five of the haemorrhages occurred during ventricular catheter replacement and the remaining one in a child given a VP shunt who sustained a spontaneous intra-cerebral haemorrhage. We inserted an external ventricular drainage without removing the original shunt. Urokinase was administered via the ventricular drain during several days until blood clearance in the CSF. Disappearance of the ventricular clots was checked by a cranial computerised tomography scan, while CSF shunt function was verified by the children's evolution and/or by a reservoir tap. RESULTS: Follow-up evaluation of the six patients demonstrated that the existing VP shunts were functioning appropriately and that the treatment was safe. CONCLUSIONS: Patients with IVH complicating ventricular catheter replacement and patients with spontaneous bleeding who harbour a VP shunt can be treated by intra-ventricular urokinase to avoid the removal of the initial shunt. The technique has proven to be safe and utilises the ventricular drain placed for the acute management of the IVH. Shunt replacement will always be possible in case of failure of the technique we are reporting.

Morbilidad cutánea en trabajadores de la empresa productora de equipos electrónicos "Vladimir Ilich Lenin" / Cutaneous orbidity in workers of the Vladimir Ilich Lenin enterprise for the production of electronic equipment

Se realizó un estudio sobre mortalidad cutánea en las trabajadoras de las áreas de ensamblaje y enrollado de la fábrica de radios perteneciente a la Empresa Productora de Equipos Electrónicos "Vladimir Ilich Lenin" que están expuestas a riesgos químicos, físicos y mecánicos. Se diagnosticaron 56 casos con enfermedades dermatológicas; de estos, 45 presentaron dermatitis irritativa ocupacional

Morbilidad cutánea en trabajadores de la empresa productora de equipos electrónicos "Vladimir Ilich Lenin" / Cutaneous morbidity in workers of the Vladimir Ilich Lenin enterprise for the production of electronic equipment

Se realizó un estudio sobre mortalidad cutánea en las trabajadoras de las áreas de ensamblaje y enrollado de la fábrica de radios perteneciente a la Empresa Productora de Equipos Electrónicos "Vladimir Ilich Lenin" que están expuestas a riesgos químicos, físicos y mecánicos. Se diagnosticaron 56 casos con enfermedades dermatológicas; de estos, 45 presentaron dermatitis irritativa ocupacional

Atrofia cutánea secundaria debido a inyección intramuscular de corticoide / Secondary cutaneous atrophy due to intrauscular injection of corticoids

Se establecen conceptos acerca de los efectos beneficiosos de los corticoides, tanto desde el punto de vista local como sistémico. Se presenta el caso de un paciente del sexo femenino de 25 años de edad con antecedentes de asma desde hace alrededor de 8 años, por lo que en varias ocasiones utilizó como tratamiento inyección intramuscular de Kanelog-40; con posterioridad a la administración del mismo notó alteraciones en la piel de la región glútea, y asiste al Servicio de Dermatología de nuestro hospital, donde se decide realizar biopsia de piel con la impresión diagnóstica de atrofia residual medicamentosa, lo cual fue corroborado con dicho estudio

Atrofia cutánea secundaria debido a inyección intramuscular de corticoide / Secondary cutaneous atrophy due to intramuscular injection of corticoids

Se establecen conceptos acerca de los efectos beneficiosos de los corticoides, tanto desde el punto de vista local como sistémico. Se presenta el caso de un paciente del sexo femenino de 25 años de edad con antecedentes de asma desde hace alrededor de 8 años, por lo que en varias ocasiones utilizó como tratamiento inyección intramuscular de Kanelog-40; con posterioridad a la administración del mismo notó alteraciones en la piel de la región glútea, y asiste al Servicio de Dermatología de nuestro hospital, donde se decide realizar biopsia de piel con la impresión diagnóstica de atrofia residual medicamentosa, lo cual fue corroborado con dicho estudio