Spinal cord tethering in children with myelomeningocele Zakotwiczenie rdzenia u dzieci z przepukliną oponowo-rdzeniową

STRESZCZENIE Zespół zakotwiczenia rdzenia kręgowego (TCS, ang. tethered cord syndrome) jest zróżnicowaną jednostką chorobową, spowodowaną przez nadmierne naciąganie rdzenia kręgowego. Może występować w każdej grupie wiekowej, a objawia się w zależności od stanu patologicznego i wieku bólem, zmianami skórnymi, deformacjami ortopedycznymi, neurologicznymi i urologicznymi. Wczesna interwencja chirurgiczna jest związana z poprawą obrazu klinicznego, głównie w ustąpieniu dolegliwości bólowych, stabilizacji funkcji neurologicznych i postępu skoliozy. Zespół rehabilitacyjny prowadzący terapię dziecka z przepukliną oponowo-rdzeniową powinien pamiętać, że TSC jest istotnym powodem pogorszenia stanu neurologicznego u dziecka z rozszczepem kręgosłupa. Słowa kluczowe: zakotwiczenie rdzenia, przepuklina oponowo-rdzeniowa, rehabilitacja ABSTRACT We retrospectively assessed tethered cord syndrome among patients with myelomeningocele in the Department of Pediatric Rehabilitation in the years 2004-2011. Fifteen (16.5% of 91 subjects with myelomeningocele) patients with tethered cord syndrome were diagnosed, aged 4-17 years (mean 11.4 ± 4.4), 11 girls and 4 boys. Reduced muscle strength and increased spasticity within the lower limbs, pain in the thoracolumbar region, and deterioration of bladder function were symptoms of tethered cord syndrome. The level of spinal cord injury in Th8-L3 prevented 9 patients from walking (use of a wheelchair); 6 children -level of spinal cord injury L4 and below -were able to walk with orthopedic equipment (crutches, walker, severely handicapped). MRI revealed the various pathologic etiologies of tethering included: lipomyelomeningocele, diastematomyelia, syringohydromyelia, and hydrosyringomyelia. A neurological or rehabilitation team working with children with myelomeningocele should remember that tethered cord syndrome is a significant cause of neurological deterioration

Duchenne muscular dystrophy: current cell therapies

Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy. This review presents current therapeutic methods for Duchenne muscular dystrophy, based on scientific articles in English published mainly in the period 2000 to 2014. We used the PubMed database to identify and review the most important studies. An analysis of contemporary studies of stem cell therapy and the use of granulocyte colony-stimulating factor (G-CSF) in muscular dystrophy was performed

Analysis of factors determining mental development of children and youth with meningomyelocele

Wprowadzenie: Przepuklina oponowo-rdzeniowa jest wadą wrodzoną układu nerwowego w której oprócz niedowładów lub porażeń kończyn dolnych może występować nieprawidłowy rozwój intelektualny. Cel badań: Ocena czynników determinujących rozwój intelektualny dzieci i młodzieży z przepukliną oponowo- -rdzeniową. Materiał i metody: Badaniem objęto 52 dzieci i młodzieży z przepukliną oponowo-rdzeniową w wieku 4–17 lat (9,1 ± 3,8 lat), 56% dziewcząt i 44% chłopców. Rozwój intelektualny analizowano na podstawie przeprowadzonych wcześniej badań w Poradni Psychologiczno-Pedagogicznej. Oceniano stan funkcjonalny pacjentów za pomocą skali Hoffer’a oraz poziom uszkodzenia rdzenia. Do analizy rozwoju intelektualnego brano pod uwagę: czynniki demograficzne, dane z wywiadu okołoporodowego, rozwój ruchowy, stan funkcjonalny i kliniczny oraz wykształcenie rodziców. Wyniki: Przepuklinę oponowo-rdzeniową okolicy lędźwiowo- krzyżowej stwierdzono w 56%, piersiowo-lędźwiową (38%) i krzyżową u 6%. Ponad połowa badanych (56%) poruszała się na wózku inwalidzkim. Nieprawidłowy rozwój intelektualny wykazano u 39%. Stwierdzono dodatnie korelacje pomiędzy rozwojem intelektualnym pacjentów a wiekiem rozpoczęcia chodzenia i wykształceniem matki. Wykazano ujemne zależności pomiędzy rozwojem intelektualnym badanych a stanem funkcjonalnym, obecnością wodogłowia i drenażu komorowo-otrzewnowego. Wnioski: Rozwój intelektualny badanej grupy z przepukliną oponowo- rdzeniową był związany z wiekiem rozpoczęcia chodu, wykształceniem matki, stanem funkcjonalnym, obecnością wodogłowia i drenażu komorowo-otrzewnowego.Introduction: Meningomyelocele is a congenital malformation of the nervous system in which, in addition to paresis or paralysis of the lower limbs, mental retardation occurs. Aim of the study: Assessment of factors determining the mental development of children and adolescents with meningomyelocele. Material and methods: 52 children and adolescents, 56% girls and 44% boys with meningomyelocele aged 4–17 years (9.1 ± 3.8 years), were studied. The mental development was analysed on the basis of previous tests in the Psychological and Pedagogical Outpatient Clinic. The Hoffer’s Scale of functional ambulation and the level of spinal cord damage were evaluated. For the mental development analysis the demographic factors, perinatal data, psychomotor development, functional and clinical status and parental education were included. Results: The lumbosacral meningomyelocele was found in 56%, thoracic-lumbar in 38% and sacral in 6%. More than half of the subjects (56%) were wheelchair-bound. Abnormal mental development was found in 39%. Positive correlations between the mental development of subjects and age of walking and mother’s education were found. Negative correlations were found between the mental development of the subjects and functional status, hydrocephalus and shunt. Conclusions: The mental development of the study subjects with meningomyelocele was related to the age at which the gait started, mother’s education, functional status, presence of hydrocephalus and shunt

Biochemical Changes in Blood of Patients with Duchenne Muscular Dystrophy Treated with Granulocyte-Colony Stimulating Factor

Introduction. In addition to the “gold standard” of therapy—steroids and gene therapy–there are experimental trials using granulocyte-colony stimulating factor (G-CSF) for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to present the biochemical changes in blood after repeating cycles of granulocyte-colony stimulating factor G-CSF therapy in children with DMD. Materials and Methods. Nineteen patients, aged 5 to 15 years, with diagnosed DMD confirmed by genetic tests, participated; nine were in wheelchairs, and ten were mobile and independent. Patients had a clinical assessment and laboratory tests to evaluate hematological parameters and biochemistry. G-CSF (5μg/kg/day) was given subcutaneously for five days during five nonconsecutive months over the course of a year. Results. We found a significant elevation of white blood cells, and the level of leucocytes returned to norm after each cycle. No signs of any inflammatory process were found by monitoring C-reactive protein. We did not detect significant changes in red blood cells, hemoglobin, and platelet levels or coagulation parameters. We found a significant elevation of uric acid, with normalization after finishing each treatment cycle. A significant decrease of the mean value activity of aspartate transaminase (AST) and alanine transaminase (ALT) of the G-CSF treatment was noted. After each five days of therapy, the level of cholesterol was significantly lowered. Also, glucose concentration significantly decreased after the fourth cycle. Conclusions. G-SCF decreased the aminotransferases activity, cholesterol level, and glucose level in patients with DMD, which may be important for patients with DMD and metabolic syndrome

Effect of Periodic Granulocyte Colony-Stimulating Factor Administration on Endothelial Progenitor Cells and Different Monocyte Subsets in Pediatric Patients with Muscular Dystrophies

Muscular dystrophies (MD) are heterogeneous group of diseases characterized by progressive muscle dysfunction. There is a large body of evidence indicating that angiogenesis is impaired in muscles of MD patients. Therefore, induction of dystrophic muscle revascularization should become a novel approach aimed at diminishing the extent of myocyte damage. Recently, we and others demonstrated that administration of granulocyte colony-stimulating factor (G-CSF) resulted in clinical improvement of patients with neuromuscular disorders. To date, however, the exact mechanisms underlying these beneficial effects of G-CSF have not been fully understood. Here we used flow cytometry to quantitate numbers of CD34+ cells, endothelial progenitor cells, and different monocyte subsets in peripheral blood of pediatric MD patients treated with repetitive courses of G-CSF administration. We showed that repetitive cycles of G-CSF administration induced efficient mobilization of above-mentioned cells including cells with proangiogenic potential. These findings contribute to better understanding the beneficial clinical effects of G-CSF in pediatric MD patients

Efficacy and the Safety of Granulocyte Colony-Stimulating Factor Treatment in Patients with Muscular Dystrophy: A Non-Randomized Clinical Trial

IntroductionThe current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders.AimWe assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD.Materials and methodsInclusion criteria were as follows: patients aged 5–15 years with diagnosed with DMD confirmed by genetic test or biopsy. Fourteen patients were treated with steroids, and their use was not changed in this study. Diagnoses were confirmed by genetic tests: deletions were detected in 11 patients and duplications in 5 patients. Nineteen 5- to 15-year-old patients diagnosed with DMD—9 were in wheelchairs, whereas 10 were mobile and independent—completed an open study. Participants received a clinical examination and performed physiotherapeutic and laboratory tests to gage their manual muscle strength, their isometric force using a hand dynamometer, and aerobic capacity [i.e., 6-min walk test (6MWT)] before and after therapy. Each participant received G-CSF (5 µg/kg/body/day) subcutaneously for five consecutive days during the 1st, 2nd, 3rd, 6th, and 12th month. Laboratory investigations that included full blood count and biochemistry were performed. Side effects of G-CSF treatment were assessed during each visit. During each cycle of G-CSF administration in the hospital, rehabilitation was also applied. All patients received regular ambulatory rehabilitation.ResultsThe subcutaneous administration of G-CSF improved muscle strength in participants. We recorded a significant increase in the distance covered in the 6MWT, either on foot or in a wheelchair, increased muscle force in isometric force, and a statistically significant decrease in the activity of the muscle enzyme creatine kinase after nearly every cycle of treatment. We observed no side effects of treatment with G-CSF.ConclusionOur findings suggest that G-CSF increases muscle strength in patients with DMD, who demonstrated that G-CSF therapy is safe and easily tolerable