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Sjögren-Larsson syndrome in Sweden : an epidemiological, genetic, clinical and biochemical studyJagell, Sten January 1981 (has links)
The Sjögren-Larsson syndrome (SLS) is a genetically determined syndrome with autosomal recessive inheritance originally and comprehensively described from Sweden. It is characterized by the three cardinal signs congenital ichthyosis, spastic di- or tetraplegia and mental retardation.The present investigation covers all 35 SLS patients alive in Sweden in 1978 and the genetic study all 58 SLS patients born in Sweden in 1886-1977. Forty-five of these were bom in a restricted area in the northeast of Sweden and five more had ancestors from this area. This concentration is probably the result of a founder effect — transmission of the SLS gene mutation from early immigrants to this area — followed by little migration to and from this area. Ancestors of SLS patients have been traced back to an early immigrant to this area in the 14th century.The mean yearly incidences of SLS per 100.000 newborn during the years 1901-1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 in the county of Norrbotten. The corresponding prevalence figures for SLS on 31 December 1978 were 0.4, 8.3 and 2.6 per 100.000 in these areas, respectively.The ichthyosis in the SLS was found to be congenital in the true sense of the word, as it was always seen at birth. The characteristic skin findings indicate that the use of replicas in ichthyotic patients may be a good complement to the clinical and histopathological examinations.All SLS patients had mental retardation and spastic di- or tetraplegia. The first observation of these symptoms was made between the age of 4 and 30 months.Small white glistening dots located in the ocular fundus were noted in all 30 SLS patients examined in this respect and seem to be pathognomonic for SLS.The fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in SLS patients were examined. The results suggest that SLS is possibly a disorder of fatty acid metabolism leading to an altered composition of polyunsaturated fatty acids due to a disturbance in the A6-desaturation of essential fatty acids. / <p>Some photos have been censored.</p><p>En del foton har blivit censurerade.</p> / digitalisering@umu
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Botulino toksino ir kineziterapijos poveikis 4-7 metų vaikams, sergantiems cerebriniu paralyžiumi / The effectiveness of physiotherapy and botulinum toxin for 4-7 years old children with cerebral palsySelvenytė, Edita 16 August 2007 (has links)
Raktiniai žodžiai: spazminė diplegija, spazmiškumas, botulino toksinas, kineziterapija.
Tyrimo objektas: botulino toksino ir kineziterapijos dažnumo efektyvumas 4-7 metų vaikams, sergantiems cerebriniu paralyžiumi.
Tyrimo problema: Cerebrinis paralyžius – dažniausia vaikų judesių raidos problema, kuri sutrikdo individo santykį su aplinka ir apriboja jo dalyvumą. Apie 70-80% vaikų, sergančių cerebriniu paralyžiu, pasitaiko spazminės formos. Pastaruoju metu pasaulyje botulino toksinas plačiausiai taikomas spazmiškumui slopinti. Nors Lietuvoje šis preparatas taikomas jau šešeri metai, tačiau nėra nustatyta, kaip kineziterapijos dažnumas įtakoja vaikų su spazmine diplegija ir hemiplegija motorinių funkcijų pokyčius po botulino toksino panaudojimo.
Darbo tikslas: Nustatyti kineziterapijos ir Botulino toksino (BTX-A) poveikį 4-7 metų vaikams, sergantiems cerebriniu paralyžiumi.
Tiriamieji klausimai: Darbe palyginami vaikų su spazmine diplegija ir hemiplegija pasyvios dorzalinės fleksijos, selektyvių p�����dos judesių skalės, pusiausvyros skalės ir bendrosios motorikos funkcijų vertinimo skalės pokyčiai po botulino toksino panaudojimo, kineziterapiją taikant 5 kartus ir 2 kartus per savaitę. Darbe pateikiama gautų rezultatų analizė ir interpretacija.
Išvados:
1. Nustatyta, kad čiurnos sąnario pasyvios dorzalinės fleksijos amplitudės padidėjo po BTX-A ir dažnos (5 kartai per savaitę) bei nedažnos (2 kartai per savaitę) kineziterapijos taikymo, tačiau skirtumas... [toliau žr. visą tekstą] / Keywords: spastic diplegia, spasticity, botulinum toxin, physiotherapy.
Object: the effectiveness of intensive (5 times/week) and regular (2 times/week) physiotherapy for children with cerebral palsy after the use of botulinum toxin.
Problem: Cerebral palsy is a frequent cause of children‘s motor disorder. It affects person‘s relationship with environment and limits his participation. Spasticity predominate for 70-80% of children with cerebral palsy. Botulinum toxin type A (BTX-A) is a relatively new and widely used method of spasticity management in children with cerebral palsy. Despite, that in Lithuania BTX-A has been used for 6 years for spasticity management, there is no evidence how intensivity of physiotherapy influence motor functions for children with cerebral palsy after botulinum toxin A injections.
Purpose: to assess the effectiveness of intensive (5 times/week) and regular (2 times/week) physiotherapy for children with cerebral palsy after botulinum toxin A injections.
Tasks: to evaluate the effectiveness of intensive and regular physiotherapy for passive ankle range of motions, for selective ankle movements, for balance and gross motor functions for children with cerebral palsy after botulinum toxin A injections.
Investigative questions: the purpose of this study to compare the effifacy of botulinum toxin and intensive and regular physiotherapy by assessing changes in passive range of motions, selective movement scale, pediatric balance scale and gross motor... [to full text]
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Severe crouch gait in the sagittal gait patterns of spastic diplegic cerebral palsy: the impact of single event multilevel surgeryRodda, Jillian Maree January 2005 (has links) (PDF)
The purpose of this thesis was to study the outcome of Single Event Multilevel Surgery (SEMLS) on the gait pattern known as crouch gait in children with spastic diplegic cerebral palsy. The term “crouch gait” in the literature has been defined by many authors to mean a flexed knee coupled with many different combinations of posture at the ankle. Consequently it was necessary to provide a robust definition of crouch gait before the outcome study could proceed. Crouch gait was defined in the context of a classification of sagittal gait patterns in spastic diplegia. In the cross-sectional study on the classification of sagittal gait patterns, 187 children with spastic diplegia were categorised according to visual recognition of their gait pattern and sagittal plane kinematic data. Six gait patterns in spastic diplegia were identified, one of which was crouch gait. A pattern of increasing age, severity and biomechanical incompetency in maintaining an extended posture was seen across the gait patterns and crouch gait appeared to be the “end” gait pattern. A longitudinal study documented how the identified gait patterns evolved over time. Thirty-four children were followed for more than one year and the results indicated that the stability of the gait pattern was variable. The reliability of the classification was found to be acceptable. (For complete abstract open document)
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