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1.
BMC Pulm Med ; 24(1): 256, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38789978

RESUMO

BACK GROUND: Knowledge concerning pulmonary function in adult patients with onset of idiopathic scoliosis before age 10 is sparse. A long-term follow-up (FU, mean 26 years, > 12 years after treatment) of pulmonary function (PF) in patients treated with brace or surgery due to idiopathic scoliosis with onset before the age of 10 was earlier performed. To evaluate whether a more severe reduction in pulmonary function leads to more rapid deterioration within a four-year period, this study was performed. METHODS: Twenty patients with the most reduced pulmonary function and 19 out of those with normal PF found at the long-term FU were reexamined 4 years later to evaluate further changes in pulmonary function. Patients underwent spirometry and arterial blood gas analysis and answered pulmonary symptom questionnaires. RESULTS: 70% of the reduced pulmonary function group had undergone surgery vs. 26% of the normal group. The mean age (47 vs. 43 years) at this FU and curve size (37° vs. 35°) at the 26-year FU were similar. The decline in forced vital capacity (FVC) % of predicted was similar in both groups over the four-year period, from 67 to 65% in the reduced PF group vs. 96 to 94% in the normal PF group. The total lung capacity (TLC) % of predicted did not change over time in either group. No patient reported worsening dyspnea symptoms. Only one patient in the reduced PF group showed low arterial oxygen tension, 8.4 kPa, not signifying respiratory insufficiency. CONCLUSION: The age-related decline in FVC and TLC % of predicted did not differ between those with reduced and those with normal pulmonary function at the 26-year follow-up. Thus, these data do not infer increased rate of decline in the most deteriorated patients.


Assuntos
Pulmão , Escoliose , Espirometria , Humanos , Escoliose/fisiopatologia , Feminino , Masculino , Adulto , Capacidade Vital , Pessoa de Meia-Idade , Pulmão/fisiopatologia , Progressão da Doença , Seguimentos , Criança , Capacidade Pulmonar Total , Testes de Função Respiratória , Gasometria , Braquetes , Inquéritos e Questionários , Idade de Início
2.
Eur Spine J ; 22(11): 2421-6, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23801015

RESUMO

PURPOSE: To study family history in relation to curve severity, gender, age at diagnosis and treatment in idiopathic scoliosis. METHODS: A self-assessment questionnaire on family history of scoliosis was administered to 1,463 untreated, brace or surgically treated idiopathic scoliosis patients. RESULTS: Out of the 1,463 patients, 51 % had one or more relatives with scoliosis. There was no significant difference between females and males, nor between juvenile and adolescent study participants in this respect (p = 0.939 and 0.110, respectively). There was a significant difference in maximum curve size between patients with one or more relatives with scoliosis (median 35°, interquartile range 25) and patients without any relative with scoliosis (median 32°, interquartile range 23) (p = 0.022). When stratifying patients according to treatment (observation, brace treatment or surgery), we found that it was more common to have a relative with scoliosis among the treated patients (p = 0.011). The OR for being treated was 1.32 (95% CI 1.06-1.64) when the patient had a relative with scoliosis, compared to not having. CONCLUSIONS: Larger curve sizes were found in patients with a family history of scoliosis than in the ones without. No relation between family history and gender or between family history and age at onset of idiopathic scoliosis was found. Although the presence of a family history of scoliosis may not be a strong prognostic risk factor, it indicates that these patients are at higher risk of developing a more severe curve.


Assuntos
Escoliose/diagnóstico , Adulto , Autoavaliação Diagnóstica , Família , Feminino , Humanos , Masculino , Anamnese , Pessoa de Meia-Idade , Prevalência , Prognóstico , Fatores de Risco , Escoliose/epidemiologia , Escoliose/genética , Escoliose/terapia , Autorrelato , Inquéritos e Questionários , Suécia/epidemiologia , Adulto Jovem
3.
Acta Paediatr ; 101(9): 953-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22712552

RESUMO

AIM: The aim was to study health-related quality of life (HRQL) in Swedish children with myelomeningocele (MMC) with respect to ambulatory function. METHODS: A physical examination of the lower limbs was performed, and occurrence of orthopaedic deformities and shunted hydrocephalus was documented. A questionnaire on general health-related quality of life Child Health Questionnaire-50 Parent Form (CHQ-PF50) was answered by the parents of 62 children, mean age 12.5 (3.1) years. RESULTS: The non-ambulatory children had significantly more frequent spasticity in the lower limbs, more often joint contractures as well as hip dislocation or spine deformity compared with ambulating patients. Thirty-two per cent of the ambulators managed without wheelchair use. All non-ambulators were wheelchair users, of which 60% used both a manual and a powered wheelchair. The children with MMC perceived significantly lower HRQL of all subscales of CHQ compared with the healthy control group. Physical function was significantly higher in ambulatory patients, PF = 57.1 compared with 22.2 for non-ambulatory patients. CONCLUSION: A Swedish population of children with MMC perceived lower HRQL compared with healthy children, but similar HRQL irrespective of ambulatory function except for the physical domain was reported.


Assuntos
Meningomielocele , Caminhada , Adolescente , Criança , Feminino , Humanos , Hidrocefalia/complicações , Hidrocefalia/cirurgia , Masculino , Meningomielocele/complicações , Meningomielocele/fisiopatologia , Meningomielocele/reabilitação , Aparelhos Ortopédicos , Qualidade de Vida , Suécia
4.
Spine Deform ; 10(5): 1085-1095, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35320580

RESUMO

PURPOSE: To determine long-term outcome in terms of spinal range of motion (ROM) and trunk muscle endurance (TME) patients treated for idiopathic scoliosis, diagnosed before the age of ten, were evaluated and compared with untreated or treated patients with idiopathic scoliosis with adolescent onset (AIS). METHODS: Sixty-three braced and 53 operated patients underwent examination of spinal ROM and TME. Validated questionnaires were used for evaluation of back function. RESULTS: A total of 116 patients were examined 26.5 years after treatment. Braced EOS patients had longer bracing time and operated EOS patients had longer fusions compared to the respective AIS groups. Braced EOS patients had similar total ROM (thoracic ROM 40°, lumbar ROM 78°) and TME (trunk flexors 140 s, trunk extensors 255 s) as untreated AIS patients (thoracic ROM 34°, lumbar ROM 88°, trunk flexor endurance 158 s, trunk extensor endurance 234 s). Braced patients also had significantly better results than braced AIS patients. Operated EOS patients were slightly but significantly stronger and more mobile compared to AIS peers. The lumbar ROM was found to affect the back function in the operated EOS group (Oswestry Questionnaire, rs = 0.49, p < 0.001). CONCLUSIONS: The braced EOS patients had mostly similar muscle strength and mobility as the untreated but younger AIS group, while the braced AIS group showed reductions of both strength and mobility. Similar significant, but small, differences were also found between operated EOS and AIS patients. Especially for muscle strength were findings at a level that would be of significant clinical importance. LEVELS OF EVIDENCE: III.


Assuntos
Escoliose , Adolescente , Braquetes , Humanos , Pessoa de Meia-Idade , Músculo Esquelético , Amplitude de Movimento Articular/fisiologia , Coluna Vertebral
5.
Spine (Phila Pa 1976) ; 45(8): 522-527, 2020 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-31703053

RESUMO

STUDY DESIGN: Cross-sectional. OBJECTIVE: The aim of this study was to describe the self-experienced trunk appearance in individuals with and without idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is the most common spinal deformity. A large scoliotic deformity increases the risk of back pain and pulmonary dysfunction. The deformity has also a psychological impact. METHODS: The pictorial part of the spinal appearance questionnaire (pSAQ) was administered to 1416 individuals with idiopathic scoliosis (386 untreated, 529 brace treated, 501 surgically treated) and 272 individuals without scoliosis from the general population. Comparisons were made between individuals with and without scoliosis, between treatment groups and sex in the scoliosis group. RESULTS: Mean (95% confidence interval) age of the individuals with scoliosis was 36.2 (35.5-36.9) years and for the individuals without scoliosis 40.2 (37.9-42.4). pSAQ total was 12.3 (12.1-12.5) for individuals with scoliosis and 7.4 (7.3-7.6) for individuals without scoliosis (P < 0.001, adjusted for age and sex). pSAQ total was 11.5 (11.1-11.9) for untreated, 13.0 (12.6-13.3) for brace treated, and 12.3 (11.9-12.6) for surgically treated individuals (P < 0.001, adjusted for sex and curve size). The pSAQ total between males and females with idiopathic scoliosis did not differ (P = 0.22 adjusted for age and curve size). CONCLUSION: This study shows that individuals with idiopathic scoliosis have more concern about their body appearance than individuals without scoliosis. Untreated individuals are not as bothered of their spinal appearance as treated individuals. Males and females with scoliosis do not differ significantly in the perception of their spinal appearance. LEVEL OF EVIDENCE: 3.


Assuntos
Imagem Corporal/psicologia , Escoliose/psicologia , Autoavaliação (Psicologia) , Inquéritos e Questionários , Adulto , Braquetes/tendências , Estudos Transversais , Feminino , Humanos , Masculino , Qualidade de Vida/psicologia , Escoliose/diagnóstico por imagem , Escoliose/terapia , Coluna Vertebral/diagnóstico por imagem , Tronco/diagnóstico por imagem
6.
Spine Deform ; 8(2): 257-268, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32077084

RESUMO

STUDY DESIGN: A group of adult patients with idiopathic scoliosis, diagnosed before the age of ten, at a mean of 26.5 years after treatment with either brace or surgery during childhood and adolescence attended a clinical follow-up. OBJECTIVES: To evaluate the relation between thoracic mobility, rib-cage deformity, and pulmonary function. Long-term studies of pulmonary function in relation to thoracic mobility after treatment in this patient group have not been published. METHODS: A total of 106 patients, 57 braced and 49 operated patients, attended the follow-up. We examined thoracic mobility (range of motion of the thoracic spine, thorax expansion, and breathing movements) and rib-cage deformity (curve size and trunk deformity) as well as pulmonary function, especially total lung capacity (TLC). Respiratory muscle strength was evaluated in a subgroup. RESULTS: Thoracic range of motion was significantly less among the surgically treated patients compared with both the brace-treated and comparison group. Thorax expansion and breathing movements during maximal breathing were significantly reduced in the scoliotic patients compared with the reference values, with no significant differences between the treatment groups. The brace-treated group had better pulmonary function than the operated group, as measured by the TLC, forced vital capacity (FVC), and forced expiratory volume in one second (FEV1) (percentage of predicted values). The respiratory muscle strength was significantly lower only in the surgically treated patients when compared with reference values. The results of a multivariate analysis revealed that the strongest factors explaining TLC percentage of predicted were gender, brace model, and smoking habits. CONCLUSIONS: Thoracic mobility was significantly reduced at mean 26.5 years after completed treatment in both brace-treated and surgically treated patients with early onset scoliosis, compared with the reference values, which did not influence TLC as strongly as gender, brace model, and smoking habits. LEVELS OF EVIDENCE: Level III.


Assuntos
Braquetes , Volume Expiratório Forçado , Amplitude de Movimento Articular , Caixa Torácica/anormalidades , Escoliose/fisiopatologia , Escoliose/reabilitação , Escoliose/cirurgia , Fusão Vertebral , Capacidade Pulmonar Total , Capacidade Vital , Adolescente , Adulto , Idade de Início , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Fumar/efeitos adversos , Fatores de Tempo , Adulto Jovem
7.
Lancet ; 371(9623): 1527-37, 2008 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-18456103

RESUMO

Adolescent idiopathic scoliosis (AIS) affects 1-3% of children in the at-risk population of those aged 10-16 years. The aetiopathogensis of this disorder remains unknown, with misinformation about its natural history. Non-surgical treatments are aimed to reduce the number of operations by preventing curve progression. Although bracing and physiotherapy are common treatments in much of the world, their effectiveness has never been rigorously assessed. Technological advances have much improved the ability of surgeons to safely correct the deformity while maintaining sagittal and coronal balance. However, we do not have long-term results of these changing surgical treatments. Much has yet to be learned about the general health, quality of life, and self-image of both treated and untreated patients with AIS.


Assuntos
Braquetes/estatística & dados numéricos , Escoliose , Adolescente , Criança , Humanos , Radiografia , Escoliose/diagnóstico por imagem , Escoliose/cirurgia , Escoliose/terapia , Resultado do Tratamento
8.
Spine (Phila Pa 1976) ; 44(6): 404-410, 2019 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-30180148

RESUMO

STUDY DESIGN: Cross-sectional. OBJECTIVE: To describe quality of life in males and females with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is a three-dimensional deformity affecting the growing spine. The prevalence of larger curves, requiring treatment, is higher in females. METHODS: This cross-sectional study comprised 1519 individuals with idiopathic scoliosis (211 males) with a mean (SD) age of 35.3 (14.9) years. They all answered the Scoliosis Research Society 22 revised (SRS-22r) questionnaire and EuroQol 5-dimension-index (EQ-5D). Five hundred twenty eight were surgically treated (78 males), 535 were brace treated (50 males), and 456 were untreated (83 males). The SRS-22r subscore (excluding the satisfaction domain), the SRS-22r domains and the EQ-5D index score were calculated. Subgroup analyses based on treatment and age were performed. Statistical comparisons were performed using analysis of covariance with adjustments for age and treatment. A P-value less than 0.05 was considered as statistical significant. RESULTS: The mean (SD) SRS-22r subscore was 4.19 (0.61) in males and 4.05 (0.61) in females (P = 0.010). The males had higher scores on the SRS-22r domains function (4.56 vs. 4.42), pain (4.20 vs. 4.00), and mental health (4.14 vs. 3.92) (all P < 0.05). The mean (SD) EQ-5D index score was 0.85 (0.22) for males and 0.81 (0.21) for females (P = 0.10). There were minor differences when comparing males and females in treatment and age groups, but both treated and untreated groups had reduced quality of life compared with the national norms. CONCLUSION: When compared with females, males with idiopathic scoliosis tend to have slightly higher scores in the scoliosis specific SRS-22r but not in the generic quality of life measurement EQ-5D. Quality of life is overall similar between males and females in treatment and age groups, but reduced in comparison with the general population. LEVEL OF EVIDENCE: 3.


Assuntos
Saúde Mental , Qualidade de Vida/psicologia , Escoliose/psicologia , Escoliose/cirurgia , Adolescente , Adulto , Braquetes , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Dor/epidemiologia , Dor/psicologia , Dor/cirurgia , Escoliose/epidemiologia , Inquéritos e Questionários
9.
J Bone Joint Surg Am ; 100(10): 811-817, 2018 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-29762275

RESUMO

BACKGROUND: Health-related quality of life in adults with idiopathic scoliosis diagnosed before maturity has been reported to be similar between brace-treated and surgically treated individuals. The aim of this study was to compare health-related quality of life in untreated, brace-treated, and surgically treated adults with idiopathic scoliosis diagnosed before skeletal maturity. Subgroup analyses were performed on the basis of age at the time of the study, age of onset, surgical characteristics, and curve magnitude. METHODS: We included 1,187 adults with juvenile or adolescent idiopathic scoliosis with a mean age (and standard deviation) of 38.8 ±12.7 years. Of these, 347 were untreated, 459 had been brace-treated, and 381 had been surgically treated. The Scoliosis Research Society-22r (SRS-22r) and EuroQol 5-Dimensions (EQ-5D) were used. Statistical analyses were performed using analysis of covariance. RESULTS: The mean SRS-22r subscore was 4.15 ± 0.59 points for the untreated group, 4.10 ± 0.57 points for the previously braced group, and 4.01 ± 0.64 points for the surgically treated group (p = 0.007 adjusted for age and sex). The EQ-5D index was 0.82 ± 0.20 for the untreated group, 0.82 ± 0.20 for the previously brace-treated group, and 0.79 ± 0.24 for the surgically treated group (p = 0.026, adjusted for age and sex). Brace cessation was at the mean age of 16.2 ± 1.5 years, and the surgical procedure had been performed at the mean age of 15.3 ± 2.1 years. A more caudal fusion was associated with a lower SRS-22r subscore and EQ-5D index. No differences were observed when comparing individuals with juvenile or adolescent onset scoliosis (all p > 0.05). CONCLUSIONS: Untreated adults with idiopathic scoliosis had similar health-related quality of life to previously brace-treated individuals, and they had marginally higher health-related quality of life compared with surgically treated individuals. Therefore, both surgical and brace treatments for idiopathic scoliosis could be considered successful from a health-related quality-of-life point of view in adulthood. The age of onset of idiopathic scoliosis does not seem to influence quality of life in adulthood. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.


Assuntos
Nível de Saúde , Qualidade de Vida , Escoliose/terapia , Adolescente , Adulto , Fatores Etários , Braquetes , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escoliose/complicações , Escoliose/psicologia , Fusão Vertebral , Adulto Jovem
10.
Spine (Phila Pa 1976) ; 42(7): E404-E410, 2017 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-27496666

RESUMO

STUDY DESIGN: Cross-sectional. OBJECTIVE: To describe physical activity level and fracture rates in adults with idiopathic scoliosis, diagnosed before maturity, and to compare with a control group. SUMMARY OF BACKGROUND DATA: A previous study found a lower level of sporting activities in adults treated for idiopathic scoliosis compared with controls. Other studies have shown a lower bone mass in adults with idiopathic scoliosis compared with controls. METHODS: One thousand two hundred seventy-eight adults (aged 18-71 yr) with idiopathic scoliosis and 214 controls (aged 18-70 yr) were included and answered the International Physical Activity Questionnaire - Short Form (IPAQ-SF) and questions about previous fractures. The three scoliosis treatment groups (untreated n = 360, brace n = 460, and surgically treated n = 458) were compared. Furthermore, a comparison based on onset (juvenile n = 169 or adolescent n = 976) was performed. Achieved weekly moderate activity level and metabolic equivalent task (MET) minutes/week were assessed for patients and controls. Statistical comparisons were made with analysis of covariance with adjustments for age, body mass index, and sex. RESULTS: The proportion achieving weekly moderate activity level was 962 out of 1278 for individuals with idiopathic scoliosis (75%) and 157 out of 214 (73%) for controls (P = 0.40). The scoliosis patients reported 2016 MET-minutes/week (median value) and the controls 2456 (P = 0.06). Fracture rates did not differ (P = 0.72). Fewer surgically treated individuals achieved moderate activity level (P = 0.046) compared with the untreated and the previously braced individuals. No difference was seen regarding MET-minutes/week (P = 0.86). No differences were seen between individuals with a juvenile onset compared with individuals with an adolescent onset (all P ≥ 0.05). CONCLUSION: Adults with idiopathic scoliosis have similar physical activity level and do not sustain more fractures compared with controls. Adults with surgically treated idiopathic scoliosis have slightly lower physical activity level than previously braced and untreated patients. Onset of idiopathic scoliosis does not affect physical activity level. LEVEL OF EVIDENCE: 2.


Assuntos
Exercício Físico/fisiologia , Fraturas Ósseas/diagnóstico , Fraturas Ósseas/epidemiologia , Escoliose/diagnóstico , Escoliose/epidemiologia , Adolescente , Adulto , Idoso , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distribuição Aleatória , Sistema de Registros , Inquéritos e Questionários , Adulto Jovem
11.
PLoS One ; 12(10): e0186388, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29053750

RESUMO

BACKGROUND: Thalidomide is known to have induced thalidomide embryopathy (TE) in more than 10,000 live-born children worldwide between 1957-1962. AIM: The aim of this study was to investigate the need for orthopaedic surgery and limb orthosis in relation to function and physical independence in middle-aged individuals with TE. METHODS: 13 women/18 men with a mean age of 45.8 (SD 1.1) years were included. Information about limb surgery, the use of orthotic devices, jobs, accommodation, disability adjustments and personal assistants was collected. Physical function was measured by a modified general function score. The time needed for activities of daily living (ADL) was collected. Individuals with proximal focal femoral deficiency, PFFD, and participants in need of home or work adaptations were compared with the rest of the group. RESULT: 31 surgical procedures had been performed in the extremities. Three individuals were in need of personal assistance and seven had disability-adjusted homes. 28 individuals were working and 24 reported participation in exercises. Those with PFFD had significantly lower function score and needed a significantly longer time for ADL in the morning (p = 0.001 and p = 0.032). The group in need of home or work adjustments had significantly lower function score and needed longer time for morning ADL (p = 0.012 and p = 0.009). DISCUSSION: Few orthopaedic procedures had been performed. The TE individuals except the ones with PFFD and those in the need of disability adjustments, were mostly active workers, reported good physical function and participated in exercises, despite limb malformations.


Assuntos
Anormalidades Induzidas por Medicamentos/cirurgia , Atividades Cotidianas , Anormalidades Congênitas/cirurgia , Talidomida/toxicidade , Anormalidades Induzidas por Medicamentos/fisiopatologia , Adulto , Anormalidades Congênitas/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Artigo em Inglês | MEDLINE | ID: mdl-28616593

RESUMO

BACKGROUND: The knowledge is sparse concerning neck problems in patients with idiopathic scoliosis. This is an observational study including a control group which aims to describe the prevalence of neck problems and the association with back problems among adult individuals with and without idiopathic scoliosis. METHODS: One thousand sixty-nine adults with a mean age of 40 years, diagnosed with idiopathic scoliosis in youth, answered a questionnaire on neck and back problems. Eight hundred seventy of these answered the same questionnaire at a second occasion in a mean of 4 years later. Comparisons were made with a cross-sectional population-based survey of 158 individuals. Statistical analyses were made with logistic regression or analysis of variance, adjusted for age, smoking status, and sex. RESULTS: Individuals with scoliosis were previously untreated (n = 374), brace treated (n = 451), or surgically treated (n = 244). Of the individuals with scoliosis, 42% (n = 444) had neck problems compared to 20% (n = 32) of the controls (p = 0.001). The prevalence of neck problems was not affected by the type of treatment (p = 0.67) or onset of scoliosis; juvenile (n = 159) or adolescent (n = 910; p = 0.68). Neck and/or back problems were experienced by 72% of the individuals with scoliosis and 37% of the controls (p < 0.001). Of the individuals with scoliosis having neck problems, 81% also reported back problems, compared to 59% of the individuals in the control group (p < 0.001). The prevalence of neck and back problems was similar at the second survey. CONCLUSIONS: Neck problems are more prevalent and more often coexist with back problems in individuals with idiopathic scoliosis than in controls. The majority of individuals have persisting problems over time.

13.
PLoS One ; 12(12): e0189591, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29240829

RESUMO

A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c.G6859A change in exon 21 (NM_001408), leading to a predicted p.V2287I (NP_001399.1) change. This variant was found in all affected members of the pedigree, but showed reduced penetrance. Analysis of tagging variants in CELSR1-3 in a set of 1739 Swedish-Danish scoliosis cases and 1812 controls revealed significant association (p = 0.0001) to rs2281894, a common synonymous variant in CELSR2. This association was not replicated in case-control cohorts from Japan and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance.


Assuntos
Caderinas/genética , Predisposição Genética para Doença , Escoliose/genética , Estudos de Casos e Controles , Estudos de Coortes , Dinamarca , Feminino , Genes Dominantes , Ligação Genética , Genótipo , Humanos , Masculino , Linhagem , Suécia , Estados Unidos , Sequenciamento do Exoma
14.
J Child Orthop ; 10(6): 691-703, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27854003

RESUMO

OBJECTIVES: The aim of this study was to evaluate the effect of limb malformations on health-related quality of life (HRQL) and function of the extremities in middle-aged individuals with thalidomide embryopathy (TE). Between 1959 and 1962, approximately 150 children with multiple malformations were born in Sweden following the maternal intake of thalidomide during pregnancy, of whom 100 survived. METHODS: Thirty-one individuals with TE underwent evaluations of musculoskeletal manifestations by clinical examination. Validated questionnaires were used for the assessment of general HRQL [the 36-Item Short Form Health Survey (SF-36) and the EuroQ Five Dimensions health questionnaire (EQ-5D)]. The function of the upper and lower extremities was evaluated using specific questionnaires (Disabilities of the Arm, Shoulder and Hand scale and Rheumatoid and Arthritis Outcome Score, respectively). The lower limbs were evaluated by computed tomography. The median age of the study group was 46 years, and 42% were females. Twenty-five individuals had malformations of the hand, but 27 had a grip function. Five individuals had severe lower limb malformations. Individuals with at least one extremity with major malformation(s) that affected function (n = 15) were compared with those without (n = 16). RESULTS: The physical HRQL for the entire study group [mean 40.6, 95% confidence interval (CI) 35.4-45.8], as evaluated by the Physical Composite Score (PCS) of the SF-36, was significantly lower than the national norm value (population-based norm) of 50.0, and the physical HRQL of the subgroup with major limb malformations (15/31) was even lower (mean 34.6, 95% CI 25.9-43.4). The mental aspects of HRQL, based on SF-36 and EQ-5D scores, were not affected in the entire study group or in the subgroups. CONCLUSION: The physical quality of life was significantly lower in individuals with TE compared with the general national population, while the mental aspects were not affected. LEVEL OF EVIDENCE: IV.

15.
J Child Orthop ; 10(6): 643-650, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27817118

RESUMO

PURPOSE: When treating slipped capital femoral epiphysis (SCFE), a smooth pin with a hook or a short threaded screw can be used to allow further growth, which could be important to prevent the development of impingement and early arthritis. The purpose of this investigation was to measure growth in three dimensions after fixation of SCFE. METHODS: Sixteen participants with unilateral SCFE, nine girls and seven boys with a median age of 12.0 years (range 8.4-15.7 years), were included. The slipped hip was fixed with a smooth pin with a hook, and the non-slipped hip was prophylactically pinned. At the time of surgery, tantalum markers were installed bilaterally on each side of the growth plate through the drilled hole for the pin. Examination with radiostereometric analysis (RSA) was performed postoperatively and at 3, 6 and 12 months. The position of the epiphysis in relation to the metaphysis was calculated. RESULTS: At 12 months, the epiphysis moved caudally, median 0.16 mm and posteriorly 2.28 mm on the slipped side, in comparison to 2.28 cranially and 0.91 mm posteriorly on the non-slipped side, p = 0.003 and p = 0.030, respectively. Both slipped and non-slipped epiphysis moved medially, 1.52 and 1.74 mm, respectively. A marked variation in the movement was noted, especially on the slipped side. CONCLUSIONS: The epiphysis moved in relation to the metaphysis after smooth pin fixation, both on the slipped side and on the prophylactically fixed non-slipped side, implying further growth. The RSA method can be used to understand remodelling after 'growth-sparing' fixation of SCFE.

16.
PLoS One ; 11(5): e0155493, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27175919

RESUMO

BACKGROUND: Thalidomide was used as a sedative drug for pregnant women in the 1950-60:s and resulted in children born with thalidomide embryopathy (TE), including upper limb malformations. These may alter the motion pattern of the cervical spine by the use of head/shoulder and mouth grip. AIMS: To compare degenerative changes in the cervical spine in TE individuals with healthy controls (CTR). METHODS AND PROCEDURES: Twenty-seven middle-aged TE individuals and 27 age- and gender-matched CTR were examined by cervical spine MRI. The presence of malformations, disc herniation(s), osteophytes, nerve and medullary compression and the degree of disc degeneration (DD) were evaluated. OUTCOMES AND RESULTS: Significantly higher degree of DD was seen in the TE group compared with the controls (p<0.001). Similar frequencies of disc herniation and disc space narrowing were observed in the two groups, but more foraminal narrowing was seen in the TE group (p = 0.002). DD was observed relatively frequently at all cervical levels in the TE group, however, mainly at the two lower levels in the CTR. CONCLUSIONS AND IMPLICATIONS: Middle-aged individuals with TE have a higher frequency of degenerative changes in the cervical spine than controls, possibly caused by an altered load on the cervical spine.


Assuntos
Vértebras Cervicais/patologia , Doenças Fetais/patologia , Degeneração do Disco Intervertebral/complicações , Talidomida/efeitos adversos , Adulto , Estudos de Casos e Controles , Constrição Patológica , Demografia , Feminino , Mãos/patologia , Humanos , Degeneração do Disco Intervertebral/patologia , Perna (Membro)/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Osteófito/complicações , Osteófito/patologia
17.
Spine Deform ; 3(5): 440-450, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27927530

RESUMO

STUDY DESIGN: Consecutive patients with idiopathic scoliosis and diagnosis before age 10 were invited to a clinical follow-up (FU) at least 10 years after treatment with brace or surgery. OBJECTIVES: To evaluate the quality of life and back problems in adulthood. SUMMARY OF BACKGROUND DATA: Information on long-term outcome relating to health issues, back problems, and quality of life after treatment is sparse in this patient group. METHODS: One hundred twenty-four patients, 69% of the original group, underwent radiography, spirometry, and answered questionnaires on back problems and quality of life. Sixty-seven patients were braced and 57 patients surgically treated. Results were compared with a population-based control group (n = 130) and with patients with adolescent idiopathic scoliosis (AIS). RESULTS: Nineteen patients (15%) had onset before age 6. The mean age at present FU was 41 years, time until FU mean 26 years, and curve size mean 36°. Ninety percent of the patients were working. Overall, 77% reported back pain, but analgesic use was sparse and 88% had normal back function as measured by the Oswestry Disability Index. Quality of life as measured by the SF-36 showed no differences from national norms except for a slight reduction in physical role. Back pain and back function were at the same level as in patients with AIS of the same age and curve sizes. The Scoliosis Research Society quality of life questionnaire (revised version, SRS-22r) scores were similar for both groups except for satisfaction with management, which was lower among braced patients, 3.4 versus 4.0 (p = .0017). The dyspnea grading was strongly correlated to the SRS-22r Total score and the physical composite summary score/SF-36 in all the groups. CONCLUSIONS: Most braced and surgically treated patients had quality of life at normal level, or just slightly below for physical function. Despite frequent back pain, back function was not severely affected. Dyspnea appears to affect quality of life negatively. LEVEL OF EVIDENCE: III.

18.
Spine Deform ; 3(5): 451-461, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27927531

RESUMO

STUDY DESIGN: Consecutive patients with idiopathic scoliosis diagnosed before age 10 attended a clinical follow-up at least 10 years after treatment. OBJECTIVES: To evaluate the pulmonary function in adulthood after treatment with brace or surgery before maturity. SUMMARY OF BACKGROUND DATA: Long-term studies of these patients have not been published. METHODS: One hundred twenty-four patients (69% of the original group) underwent radiography, spirometry, and answered symptom questionnaires. A total of 73 patients had spirometries before treatment enabling longitudinal evaluation. Overall, 68 braced only (BT) and 56 surgically treated (ST) were analyzed in detail. A population-based control group was used. RESULTS: At follow-up, the mean age was 41.5 years and the mean curve size 36 degrees (26% of the curves >45 degrees). The full patient group had a significantly reduced pulmonary function (as measured by the forced vital capacity [FVC], percentage of predicted) compared with the control group, mean 85% versus 102% (p < .0001). Both subgroups of BT and ST patients showed a significant reduction, more in the ST than the BT group (means 79% and 90%, respectively, p = .0003). The most important risk factor for a low lung function at follow-up was a low initial FVC value. Initial curve size correlated with pulmonary function both before treatment and at follow-up. Most surgically treated patients, who had larger curves before treatment, did not improve their pulmonary function after surgery. CONCLUSIONS: Both braced and surgically treated patients had reduced pulmonary function at the age of around 40 years. The pulmonary function did not worsen over time in most patients. There was no difference in terms of symptoms between patient groups and controls. Initial curve size was found to be of great importance for pulmonary function. Initial spirometry and follow-up in selected patients is important. LEVEL OF EVIDENCE: III.

19.
Biomed Res Int ; 2015: 438452, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26618169

RESUMO

PURPOSE: We report a comparison study of vertebral body stapling (VBS) versus a matched bracing cohort for immature patients with moderate (25 to 44°) idiopathic scoliosis (IS). METHODS: 42 of 49 consecutive patients (86%) with IS were treated with VBS and followed for a minimum of 2 years. They were compared to 121 braced patients meeting identical inclusion criteria. 52 patients (66 curves) were matched according to age at start of treatment (10.6 years versus 11.1 years, resp. [P = 0.07]) and gender. RESULTS: For thoracic curves 25-34°, VBS had a success rate (defined as curve progression <10°) of 81% versus 61% for bracing (P = 0.16). In thoracic curves 35-44°, VBS and bracing both had a poor success rate. For lumbar curves, success rates were similar in both groups for curves measuring 25-34°. CONCLUSION: In this comparison of two cohorts of patients with high-risk (Risser 0-1) moderate IS (25-44°), in smaller thoracic curves (25-34°) VBS provided better results as a clinical trend as compared to bracing. VBS was found not to be effective for thoracic curves ≥35°. For lumbar curves measuring 25-34°, results appear to be similar for both VBS and bracing, at 80% success.


Assuntos
Vértebras Lombares/cirurgia , Escoliose/cirurgia , Vértebras Torácicas/cirurgia , Adolescente , Braquetes , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Risco , Resultado do Tratamento
20.
Nat Rev Dis Primers ; 1: 15030, 2015 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-27188385

RESUMO

Adolescent idiopathic scoliosis (AIS) is the most common form of structural spinal deformities that have a radiological lateral Cobb angle - a measure of spinal curvature - of ≥10(°). AIS affects between 1% and 4% of adolescents in the early stages of puberty and is more common in young women than in young men. The condition occurs in otherwise healthy individuals and currently has no recognizable cause. In the past few decades, considerable progress has been made towards understanding the clinical patterns and the three-dimensional pathoanatomy of AIS. Advances in biomechanics and technology and their clinical application, supported by limited evidence-based research, have led to improvements in the safety and outcomes of surgical and non-surgical treatments. However, the definite aetiology and aetiopathogenetic mechanisms that underlie AIS are still unclear. Thus, at present, both the prevention of AIS and the treatment of its direct underlying cause are not possible.


Assuntos
Escoliose , Adolescente , Feminino , Humanos , Masculino , Puberdade , Radiografia , Escoliose/diagnóstico por imagem , Escoliose/etiologia , Escoliose/terapia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia
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