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1.
Eur J Med Genet ; 68: 104924, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38355094

RESUMO

Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable with mortality in early postnatal life in some patients. Main clinical and radiographic features are narrow thorax, vertebral segmentation defects, rib anomalies, ossification defects of vertebrae, ischium and sacrum, and renal cysts. In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.


Assuntos
Anormalidades Craniofaciais , Disostoses , Osteocondrodisplasias , Costelas/anormalidades , Escoliose , Coluna Vertebral/anormalidades , Feminino , Humanos , Adolescente , Escoliose/diagnóstico por imagem , Escoliose/genética , Coluna Vertebral/diagnóstico por imagem , Disostoses/diagnóstico por imagem , Disostoses/genética , Costelas/diagnóstico por imagem , Proteínas de Transporte
2.
Spine Deform ; 11(2): 289-296, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36217000

RESUMO

BACKGROUND: Hyperkyphosis cause poor posture, self-image, clinical or cosmetic deformity and well-being. Therefore, it is important to evaluate patients' perception of appearance in the rehabilitation process of individuals with hyperkyphosis. Recently Kyphosis Specific Spinal Appearance Questionnaire (KSAQ) has been developed for the assessment of appearance in hyperkyphosis patients. OBJECTIVE: To test validity and reliability of the Turkish version of the KSAQ. METHODS: Sixty-two patients with hyperkyphosis (curve above 50º), ranging in age between 12 and 22 years, was included in this study. Turkish translation/back-translation of the KSAQ was done by an expert committee. Internal consistency was analyzed using Cronbach's alpha. Validity was assessed by correlating the KSAQ with the Scoliosis Research Society-22 (SRS-22) Questionnaire. Its reliability was assessed using the test-retest method with two-week interval (Pearson's correlation coefficient) on 44 of these patients. RESULTS: Mean kyphosis angle was 60º ± 8.9º. KSAQ total scores showed excellent internal consistency (Cronbach's α = 0.944) and test-retest reliability (ICC = 0.890). Moderate to strong associations were found between KSAQ total score, each item scores and self-image domain of SRS-22 (r -0.299 to -0.730, p < 0.05). KSAQ total score had moderate correlation with SRS-22 total score (r 0.423, p 0.001). Overall, the KSAQ scale showed good validity. CONCLUSION: The Turkish version of the KSAQ is a reliable and valid patient reported outcome measure of kyphosis-specific aspects of appearance in patients with moderate hyperkyphosis.


Assuntos
Cifose , Escoliose , Humanos , Adolescente , Criança , Adulto Jovem , Adulto , Reprodutibilidade dos Testes , Medidas de Resultados Relatados pelo Paciente , Autoimagem
3.
Phys Eng Sci Med ; 45(4): 1103-1109, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36074299

RESUMO

In recent years, the use of the Electronic Portal Imaging Device (EPID) as an in vivo dosimeter has become widespread. However, reports of EPID for stereotactic body radiotherapy (SBRT) applications is scarce. There is no data on this topic especially when there are high-density materials in the radiation field. In this study, we aimed to investigate the dose distributions of SBRT treatment plans in patients with spinal implants by transit EPID dosimetry. Implants were inserted in phantoms that mimic the vertebrae, and VMAT plans were created on the phantoms to deliver 16 Gy radiation doses to the target in 1 fraction. Transit EPID measurements were performed for each irradiation. The results were compared with the treatment planning system using the gamma analysis method. According to the gamma analysis results, while the non-implant model met the acceptance criteria with a rate of 95.4%, the implanted models did not pass the test with results between the rates of 70% to 73%. In addition, while the dose difference in the isocenter was 1.3% for the non-implanted model, this difference was observed to be between 7 and 8% in the implanted models. Our study revealed that EPID can be used as transit dosimetry for the VMAT-SBRT applications. However, unacceptable dose differences were obtained by transit EPID dosimetry in the VMAT-SBRT applications of patients with an implant. In the treatment of such patients, alternative treatment methods should be preferred in which the interaction of the implants with radiation can be prevented.


Assuntos
Radiocirurgia , Radioterapia de Intensidade Modulada , Humanos , Dosagem Radioterapêutica , Radioterapia de Intensidade Modulada/métodos , Eletrônica , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia
4.
J Pediatr Orthop ; 41(7): e517-e523, 2021 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-33900218

RESUMO

BACKGROUND: No clear guidelines exist for appropriate surgical treatment of congenital scoliosis. The spectrum varies from isolated posterior instrumentation and fusion (PIF-only) to vertebral column resections. Multiple posterior column osteotomies (PCOs) with and without concave rib osteotomies have previously been suggested as an alternative to invasive 3-column osteotomies. The aim of the study is to analyze outcomes of spinal surgery in congenital scoliosis patients for a new treatment algorithm based on a traction radiograph under general anesthesia (TruGA). METHODS: Surgical intervention was determined according to flexibility with TruGA: patients with >40% correction underwent PIF-only; patients with <40% of correction underwent PCO. Patients, who had <30% of correction in TruGA and/or more than 5 vertebral levels with failure of segmentation, underwent additional concave rib osteotomies. The radiologic and clinical results were compared. RESULTS: Forty-three patients met inclusion criteria (14M). The mean age was 13.8 (10 to 17) years, average follow-up 67 (24 to 107) months. Fourteen patients were in the PIF-only group, 29 in the PCO group. PCO patients were significantly older (14.5 vs. 12.3, P=0.001). Mean operative time and blood loss of PCO group were significantly greater than those of PIF-only group. Nine patients required concave rib osteotomies. While the curve magnitude of patients in the PIF-only and PCO groups did not differ significantly (54.6 vs. 63 degrees, P=0.067), curve rigidity was significantly higher in the patients of PCO group (51.2% vs. 32%, P=0.001). Despite this, postoperative correction rates for 2 groups were similar (51.1% vs. 47.8%, P=0.545). CONCLUSIONS: The number of anomalous segments and the curve flexibility on TruGA play important roles in the decision-making process in congenital scoliosis and <40% flexibility of the major curve could be an important indicator of the need for PCO. Curves with more than 5 anomalous vertebral segments might be more likely to need additional concave rib osteotomies for adequate correction. LEVEL OF EVIDENCE: Level III.

6.
Spine Deform ; 8(6): 1175-1183, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32474902

RESUMO

STUDY DESIGN: Cross-sectional and clinical measurement. OBJECTIVE: To evaluate upper extremity function and its relation to the curve pattern in idiopathic scoliosis. Postural alterations and trunk distortions-caused by three-dimensional deformity itself in idiopathic scoliosis-may lead to functional changes in the upper extremity of subjects. METHODS: Handgrip, pulp and lateral pinch strengths, hand dexterity, hand reaction time, coordination of upper extremity, upper extremity performance, throwing accuracy, and self-reported upper extremity disability were evaluated in 96 subjects. These subjects were divided into 3 groups: 47 with main thoracic curve pattern scoliosis (Lenke type 1), 31 with thoracolumbar/lumbar curve pattern scoliosis (Lenke type 5), and 18 unaffected (healthy control). Comparisons were performed between these three groups. RESULTS: The thoracic scoliosis group showed a significant decrease in concave lateral pinch strength, concave hand dexterity of turning, coordination of the upper extremities, and concave hand reaction time than the thoracolumbar/lumbar scoliosis group (p < 0.05). Bilateral handgrip strengths decreased in thoracic scoliosis group when compared to healthy controls. Healthy individuals demonstrated greater throwing accuracy than individuals with scoliosis. CONCLUSIONS: Upper extremity function was found to be affected based on the curve pattern. Individuals with main thoracic curves are likely to have deteriorated upper extremity function, especially for hand-specific motor skills, on the concave side, when compared to lumbar curves and healthy controls. LEVEL OF EVIDENCE: Level III.


Assuntos
Escoliose/fisiopatologia , Extremidade Superior/fisiopatologia , Adolescente , Estudos Transversais , Feminino , Força da Mão , Humanos , Vértebras Lombares/patologia , Destreza Motora , Projetos Piloto , Postura/fisiologia , Tempo de Reação , Escoliose/patologia , Vértebras Torácicas/patologia
7.
J Pediatr Orthop ; 40(8): e734-e739, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32282619

RESUMO

BACKGROUND: Growing-rod (GR) treatment is the current standard for progressive idiopathic early-onset scoliosis (I-EOS) in young children. Despite good radiographic outcomes, the impact of scoliosis treatment on pulmonary functions is not well-defined in this patient population. The aim of this study was to evaluate pulmonary functions and exercise tolerance in I-EOS patients graduated from GR treatment and to compare them with age-matched, surgically treated adolescent idiopathic scoliosis (AIS) patients and healthy controls. METHODS: Eight GR graduates with I-EOS with pulmonary function tests and complete radiographic results were compared with a group of 9 thoracic AIS patients at least 2 years out from posterior fusion. Both groups were also compared with a set of 10 healthy individuals. All subjects underwent cardiopulmonary exercise testing and spirometry to evaluate pulmonary function. RESULTS: Age, sex, height, arm span, weight, residual deformity, and level of instrumentation in GR and AIS patients were similar. In the GR group, forced vital capacity % and forced expiratory volume in 1 second % values were reduced compared with the healthy controls and AIS group (P<0.001, <0.001 and 0.036, 0.046, respectively). Breathing reserve index at lactate threshold (BRILT) was higher in GR and AIS patients (P=0.001 and 0.002, respectively), and was similar between GR and AIS patients (P=0.916). Heart rate at lactate threshold was higher in GR and AIS groups compared with controls (P<0.001 and 0.001, respectively). CONCLUSIONS: AIS and GR patients demonstrated reduced pulmonary reserve and exercise tolerance compared with their peers with no spinal deformity. However, exercise tolerance of I-EOS patients treated with the GR method was similar to that of operated AIS patients. These results suggest a positive impact of GR treatment in children with I-EOS. LEVEL OF EVIDENCE: Level III-cross-sectional comparative study.


Assuntos
Teste de Esforço/métodos , Pulmão , Complicações Pós-Operatórias , Testes de Função Respiratória/métodos , Escoliose , Fusão Vertebral , Vértebras Torácicas , Adolescente , Desenvolvimento do Adolescente/fisiologia , Idade de Início , Estudos Transversais , Tolerância ao Exercício/fisiologia , Feminino , Humanos , Pulmão/crescimento & desenvolvimento , Pulmão/fisiopatologia , Masculino , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/prevenção & controle , Escoliose/epidemiologia , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Vértebras Torácicas/crescimento & desenvolvimento , Vértebras Torácicas/cirurgia
8.
IET Syst Biol ; 14(2): 96-106, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32196468

RESUMO

Double-strand break-induced (DSB) cells send signal that induces DSBs in neighbour cells, resulting in the interaction among cells sharing the same medium. Since p53 network gives oscillatory response to DSBs, such interaction among cells could be modelled as an excitatory coupling of p53 network oscillators. This study proposes a plausible coupling model of three-mode two-dimensional oscillators, which models the p53-mediated cell fate selection in globally coupled DSB-induced cells. The coupled model consists of ATM and Wip1 proteins as variables. The coupling mechanism is realised through ATM variable via a mean-field modelling the bystander signal in the intercellular medium. Investigation of the model reveals that the coupling generates more sensitive DNA damage response by affecting cell fate selection. Additionally, the authors search for the cause-effect relationship between coupled p53 network oscillators and bystander effect (BE) endpoints. For this, they search for the possible values of uncertain parameters that may replicate BE experiments' results. At certain parametric regions, there is a correlation between the outcomes of cell fate and endpoints of BE, suggesting that the intercellular coupling of p53 network may manifest itself as the form of observed BEs.


Assuntos
Efeito Espectador/genética , Dano ao DNA , Modelos Biológicos , Quebras de DNA de Cadeia Dupla , Espaço Intracelular/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Incerteza
10.
Prosthet Orthot Int ; 43(4): 434-439, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30945977

RESUMO

BACKGROUND: Despite the common use of braces to prevent curve progression in idiopathic scoliosis, their functional effects on respiratory mechanics have not been widely studied. OBJECTIVE: The objective was to determine the effects of bracing on pulmonary function in idiopathic scoliosis. METHODS: A total of 27 adolescents with a mean age of 14.5 ± 1.5 years and idiopathic scoliosis were included in the study. Pulmonary function evaluation included vital capacity, forced expiratory volume, forced vital capacity, maximum ventilator volume, peak expiratory flow, and respiratory muscle strengths, measured with a spirometer, and patient-reported degree of dyspnea. The tests were performed once prior to bracing and at 1 month after bracing (while the patients wore the brace). RESULTS: Compared with the unbraced condition, vital capacity, forced expiratory volume, forced vital capacity, maximum ventilator volume, and peak expiratory flow values decreased and dyspnea increased in the braced condition. Respiratory muscle strength was under the norm in both unbraced and braced conditions, while no significant difference was found for these parameters between the two conditions. CONCLUSION: The spinal brace for idiopathic scoliosis tended to reduce pulmonary functions and increase dyspnea symptoms (when wearing a brace) in this study. Special attention should be paid in-brace effects on pulmonary functions in idiopathic scoliosis. CLINICAL RELEVANCE: Bracing seems to mimic restrictive pulmonary disease, although there is no actual disease when the brace is removed. This study suggests that bracing may result in a deterioration of pulmonary function when adolescents with idiopathic scoliosis are wearing a brace.


Assuntos
Braquetes , Pulmão/fisiopatologia , Escoliose/fisiopatologia , Escoliose/terapia , Adolescente , Dispneia , Feminino , Humanos , Medidas de Volume Pulmonar , Testes de Função Respiratória
11.
Spine (Phila Pa 1976) ; 44(11): E656-E663, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30475340

RESUMO

STUDY DESIGN: Cross-sectional case-control study. OBJECTIVE: Compare psychosocial profile of magnetically-controlled growing rod (MCGR) patients to traditional-growing rod (TGR) with an array of psychiatric tools, expecting improvement in MCGR due to decreased number of surgical procedures. SUMMARY OF BACKGROUND DATA: TGR treatment has had positive clinical and radiographic results; however, upward of 10 surgical sessions and high complication rates have called into question the quality of life of these children. Improvement with the introduction of the MCGR is expected. METHODS: GR patients with minimum of 2-years follow-up were recruited. None had neurological conditions. All underwent testing with the Wechsler Intelligence Scale for Children-Revised, and only those in the normal range were included. Patients filled out questionnaires with mental health professionals to measure psychosocial status. MCGR patients' results were compared to TGR patients. RESULTS: Twenty-seven patients met criteria (10 MCGR, 17 TGR): average age at enrollment 11.8 years (range 5.9-17). MCGR group was significantly younger (9.1 vs. 13.3 yr) and had significantly shorter follow-up (45.6 vs. 82.8 mo) (P < 0.05). TGR patients underwent an average of 16 surgical procedures, MCGR an average of 1.5 (including complications, P < 0.05). Age at index surgery (6 yr), preoperative and postoperative major curve magnitudes (60°, 40° respectively) were statistically similar.There was no difference in current psychiatric diagnoses between the groups. MCGR patients scored worse than TGR patients in general functionality domains. TGR patients showed increased functionality and prosocial scores with increased number of procedures. This effect was not observed in MCGR. CONCLUSIONS: The expected improvement in psychosocial status with the MCGR was not observed at a 31.6-month-follow-up. It appears that provided the patient spends enough time in the treatment process to notice benefit and does not experience major complications, noninvasiveness of lengthening procedures does not show up as an advantage with the psychosocial tools utilized in this study. LEVEL OF EVIDENCE: 3.


Assuntos
Magnetoterapia/tendências , Próteses e Implantes/tendências , Escoliose/psicologia , Escoliose/cirurgia , Estresse Psicológico/psicologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Magnetoterapia/instrumentação , Magnetoterapia/métodos , Magnetismo/instrumentação , Magnetismo/métodos , Magnetismo/tendências , Masculino , Qualidade de Vida/psicologia , Estudos Retrospectivos , Escoliose/diagnóstico , Estresse Psicológico/diagnóstico , Inquéritos e Questionários
12.
IET Syst Biol ; 12(1): 26-38, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29337287

RESUMO

This study proposes a two-dimensional (2D) oscillator model of p53 network, which is derived via reducing the multidimensional two-phase dynamics model into a model of ataxia telangiectasia mutated (ATM) and Wip1 variables, and studies the impact of p53-regulators on cell fate decision. First, the authors identify a 6D core oscillator module, then reduce this module into a 2D oscillator model while preserving the qualitative behaviours. The introduced 2D model is shown to be an excitable relaxation oscillator. This oscillator provides a mechanism that leads diverse modes underpinning cell fate, each corresponding to a cell state. To investigate the effects of p53 inhibitors and the intrinsic time delay of Wip1 on the characteristics of oscillations, they introduce also a delay differential equation version of the 2D oscillator. They observe that the suppression of p53 inhibitors decreases the amplitudes of p53 oscillation, though the suppression increases the sustained level of p53. They identify Wip1 and P53DINP1 as possible targets for cancer therapies considering their impact on the oscillator, supported by biological findings. They model some mutations as critical changes of the phase space characteristics. Possible cancer therapeutic strategies are then proposed for preventing these mutations' effects using the phase space approach.


Assuntos
Raios gama , Modelos Teóricos , Proteína Supressora de Tumor p53 , Proteínas Mutadas de Ataxia Telangiectasia , Proteínas de Transporte/fisiologia , Proteínas de Choque Térmico/fisiologia , Neoplasias/metabolismo , Neoplasias/terapia , Proteína Fosfatase 2C/fisiologia , Proteína Supressora de Tumor p53/fisiologia
13.
Spine Deform ; 6(1): 48-53, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29287817

RESUMO

BACKGROUND: Metal ions released from spinal instruments can cause localized debris and distribute systemically to settle on distant organs. Children with early-onset deformities live with metallic implants for a substantial amount of time. No research focused on metal distribution in growth-friendly instrumentations. The aim of this study was to compare age-matched growing rod (GR) and magnetically controlled growing rod (MCGR) groups to noninstrumented controls. METHODS: The study was designed as a multicenter, prospective, cross-sectional case series. GR and MCGR applications of three institutions were included. A total of 52 children were enrolled. Blood samples were collected between December 2014 and February 2015. Biochemical serum analyses were performed to trace and quantify titanium, vanadium, aluminum, and boron. The GR group included 15 children. Mean age was 10.7 (range 6-15). MCGR group included 22 children. Mean age was 8.5 (range 2-13). Fifteen age-matched nonoperated children formed the control group. The mean age was 10.4 (range 5-15). One-way analysis of variance, Kruskal-Wallis, and Mann-Whitney U tests were used for comparisons. RESULTS: The mean serum titanium level in control, GR, and MCGR groups were 2.8 ± 1.4, 7.3 ± 4.3, and 10.2 ± 6.8 µg/L, respectively. GR and MCGR group titanium levels were higher than controls' (p = .008 and p < .001). The mean serum vanadium level in control, GR, and MCGR groups were 0.2 ± 0.0, 0.2 ± 0.0, and 0.5 ± 0.5 µg/L, respectively. MCGR group vanadium level was higher than control (p < .001) and GR groups (p = .004). Mean serum levels in control, GR, and MCGR groups were, respectively, 5.4 ± 4.1, 8.1 ± 7.4, and 7.8 ± 5.1 µg/L for aluminum and 86.7 ± 2.7, 86.9 ± 2.5, and 85.0 ± 6.6 µg/L for boron. The distribution of aluminum and boron were similar across groups (p = .675 and p = .396). CONCLUSIONS: Both GR and MCGR applications significantly release titanium and possibly aluminum. MCGR further releases vanadium. MCGR possibly releases more titanium than traditional GR. Time-dependent alterations of serum ion levels, structural properties of the MCGR device, and exposure caused by magnetic distraction processes warrant investigation.


Assuntos
Íons/sangue , Metais/sangue , Próteses e Implantes/efeitos adversos , Escoliose/cirurgia , Coluna Vertebral/cirurgia , Adolescente , Idade de Início , Alumínio/sangue , Análise de Variância , Boro/sangue , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Efeitos Adversos de Longa Duração/sangue , Efeitos Adversos de Longa Duração/induzido quimicamente , Masculino , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/induzido quimicamente , Período Pós-Operatório , Estudos Prospectivos , Escoliose/sangue , Estatísticas não Paramétricas , Fatores de Tempo , Titânio/sangue , Vanádio/sangue
14.
Spine (Phila Pa 1976) ; 43(2): 148-153, 2018 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-28604490

RESUMO

STUDY DESIGN: Cross-sectional study. OBJECTIVE: To compare quality of life and caregiver burden in traditional growing rod (TGR) and magnetic controlled growing rods (MCGR) patients. SUMMARY OF BACKGROUND DATA: MCGR decrease surgical sessions associated with treatment of early onset scoliosis (EOS), hoping to minimize the burdens seen with repetitive invasive surgeries in TGR treatment. Although the clinical indications for these treatments have largely been agreed upon, there is a lack of understanding of their impact on patients' and families' quality of life. METHODS: Inclusion criteria: ≤10 years of age at index procedure, major curve ≥30°, no previous spine surgery, minimum 1-year postoperative follow-up. The previously validated 24-item early onset scoliosis questionnaire (EOSQ-24) was utilized to assess quality of life. Statistic methods were applied to compare domain scores between TGR and MCGR patients. RESULTS: Forty-four children with EOS were enrolled; 25 TGR and 19 MCGR. Groups were similar in sex and age at index surgery. Age at time of questionnaire and mean length of follow-up were significantly different; patients were older (14.0 vs. 8.8 yr) and had longer follow-up (101.3 vs. 34.3 mo) in TGR (P < 0.01). Deformity correction and complication rates were similar between groups. At the time of questionnaire, scores of economic burden and overall satisfaction in MCGR were significantly superior to those in TGR by univariate analysis. When controlled for duration of follow-up, some domain scores trended towards statistical significance, some remained stable, and others regressed to non-significance. CONCLUSION: Health related quality of life data reveal superior outcomes in overall satisfaction and financial burden domains in the MCGR group. However, the positive effects of MCGR decrease when controlled for length of follow up, indicating that the MCGR is not yet a magic fix-all, and that the TGR remains an option in the treatment of EOS. LEVEL OF EVIDENCE: 3.


Assuntos
Procedimentos Ortopédicos/métodos , Próteses e Implantes , Qualidade de Vida , Escoliose/cirurgia , Adolescente , Criança , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Magnetismo , Masculino , Período Pós-Operatório , Inquéritos e Questionários
15.
J Pediatr Orthop B ; 27(2): 180-183, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28704301

RESUMO

There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. LEVEL OF EVIDENCE: Case series; Level IV.


Assuntos
Ectromelia/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Escoliose/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Ectromelia/complicações , Feminino , Humanos , Masculino , Escoliose/etiologia , Deformidades Congênitas das Extremidades Superiores/complicações
16.
IET Syst Biol ; 12(4): 138-147, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33451182

RESUMO

p53 network, which is responsible for DNA damage response of cells, exhibits three distinct qualitative behaviours; low state, oscillation and high state, which are associated with normal cell cycle progression, cell cycle arrest and apoptosis, respectively. The experimental studies demonstrate that these dynamics of p53 are due to the ATM and Wip1 interaction. This paper proposes a simple two-dimensional canonical relaxation oscillator model based on the identified topological structure of ATM and Wip1 interaction underlying these qualitative behaviours of p53 network. The model includes only polynomial terms that have the interpretability of known ATM and Wip1 interaction. The introduced model is useful for understanding relaxation oscillations in gene regulatory networks. Through mathematical analysis, we investigate the roles of ATM and Wip1 in forming of these three essential behaviours, and show that ATM and Wip1 constitute the core mechanism of p53 dynamics. In agreement with biological findings, we show that Wip1 degradation term is a highly sensitive parameter, possibly related to mutations. By perturbing the corresponding parameters, our model characterizes some mutations such as ATM deficiency and Wip1 overexpression. Finally, we provide intervention strategies considering our observation that Wip1 seems to be an important target to conduct therapies for these mutations.

17.
Spine Deform ; 5(5): 334-341, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28882351

RESUMO

STUDY DESIGN: Cross-sectional study. OBJECTIVE: Assess the psychosocial status of children with early-onset scoliosis (EOS) undergoing multiple procedures and evaluate associations with other variables. SUMMARY OF BACKGROUND DATA: EOS may require repetitive surgical procedures to control deformity and preserve growth. These procedures impact patients' psychosocial status because of the repetitive surgeries. METHODS: EOS patients 6-18 years, undergoing traditional growing rod treatment with more than 5 surgical procedures, and neurologically/mentally intact were included. Patients were screened for psychiatric disorders before inclusion. The Quality of Life Scale for Children (PedsQL), Strengths and Difficulties Questionnaire (SDQ) self-report form, Beck Depression Inventory, Children Depression Inventory (CDI), Beck Anxiety Inventory (BAI), and the Self-Report for Childhood Anxiety Related Disorders (SCARED) were completed by the children. PedsQL Parental Form and SDQ Parent Form were completed by their parents. RESULTS: Twenty-one patients (9 male, 12 female) met the inclusion criteria. Average age was 6.4 years (4-10.5) at index surgery, and 13.5 years (8-17) at final follow-up. The mean number of procedures was 13 (6-18). Mean follow-up was 83.9 months (36-122). Depression was observed in 23.8% of patients, and generalized anxiety disorder in 42.8%. Patients in the study group were more likely than the general population to have a psychiatric diagnosis. Number of procedures undergone was found to correlate negatively with BAI, SCARED, and the behavioral difficulties domain of SDQ parent form score and positively with emotional functioning, psychosocial health summary score, PedsQL total score, and increased social and physical functioning. Nonidiopathic etiology was found to be related to increased behavioral difficulties and lower functioning. CONCLUSION: A higher prevalence of depressive and anxiety symptoms was observed in patients with EOS along with dysfunctional areas of daily life. Other comorbidities may also contribute to dysfunction and difficulties. Determination of the aspects of EOS treatment that have a negative impact on psychosocial functioning may allow for more competent help for these patients.


Assuntos
Complicações Pós-Operatórias/epidemiologia , Qualidade de Vida/psicologia , Reoperação/psicologia , Escoliose/psicologia , Coluna Vertebral/cirurgia , Adolescente , Idade de Início , Ansiedade/epidemiologia , Ansiedade/psicologia , Criança , Estudos Transversais , Depressão/epidemiologia , Depressão/psicologia , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/psicologia , Prevalência , Escoliose/cirurgia
18.
Clin Spine Surg ; 30(7): 285-290, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28746122

RESUMO

STUDY DESIGN: Retrospective cohort. OBJECTIVE: The purpose of this study is to compare the anterior-posterior surgery to posterior-only vertebra resection for congenital kyphoscoliosis in pediatric patients. SUMMARY OF BACKGROUND DATA: Vertebral column resection is a very powerful correction technique mainly used in the treatment of severe and rigid spinal deformities. The technique can be applied with combined anterior and posterior vertebral column resection (APVCR) or posterior-only vertebral column resection (PVCR) approaches. PVCR has gained popularity recently due to several apparent advantages, but APVCR is still believed by some to be a viable alternative, despite the use of an anterior exposure. MATERIALS AND METHODS: A retrospective chart and radiographic review was performed including the patients with congenital kyphoscoliosis up to 16 years of age who were operated on by a single senior surgeon in our department after 2005. The data included surgical time, estimated blood loss, duration of hospital and postoperative intensive care unit stay, intraoperative and postoperative complications. Preoperative, postoperative, and follow-up radiographs were evaluated for scoliosis, kyphosis, and spinal balance. RESULTS: Twenty-six patients (20 girls, 6 boys) met the inclusion criteria. APVCR was performed on 17 (median age, 13.2 y) and PVCR on 9 (median age, 10.7 y). Scoliosis correction at the time of last follow-up was 54.3% and 52.6% for APVCR and PVCR, respectively, whereas the average kyphosis correction was 25.4 degrees in APVCR and 30.1 degrees in PVCR group. Surgical time, hospital stay, and estimated blood loss were all significantly higher in the APVCR group, whereas the complication rates were similar. No neurological or vascular complications were encountered. CONCLUSIONS: This study showed that although the operative time and surgical blood loss were higher with APVCR, there were no major complications and the radiologic outcomes were similar between APVCR and PVCR. APVCR should be considered as an acceptable technique especially in deformities where PVCR would be technically difficult or at the beginning of the spine surgeon's learning curve. LEVEL OF EVIDENCE: Level III.


Assuntos
Cifose/congênito , Cifose/cirurgia , Complicações Pós-Operatórias/etiologia , Escoliose/congênito , Escoliose/cirurgia , Coluna Vertebral/cirurgia , Adolescente , Criança , Feminino , Humanos , Cifose/complicações , Masculino , Cuidados Pós-Operatórios , Escoliose/complicações , Coluna Vertebral/anormalidades , Resultado do Tratamento
19.
Spine (Phila Pa 1976) ; 42(24): E1410-E1414, 2017 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-28658035

RESUMO

STUDY DESIGN: A retrospective review of prospectively collected clinical and radiologic data of patients with magnetically controlled growing rods (MCGRs) from a multi-centered study with a minimum of 2-year follow-up. OBJECTIVE: The aim of this study was to describe the incidence and causes of unplanned reoperations and to report the outcomes of patients treated with MCGR for early-onset scoliosis (EOS). SUMMARY OF BACKGROUND DATA: Published clinical studies have demonstrated that MCGR is safe and effective for curvature control of EOS, and can avoid repeated surgeries for distractions. However, there have been no reports on the unplanned reoperations and complications of MCGR for EOS with a large series of patients. METHODS: Between 2009 and 2012, 30 patients with EOS underwent MCGR implantation in six institutions. A retrospective review of prospectively collected clinical and radiologic data with a minimum of 2-year follow-up was conducted. Demographic data, radiologic measurements, unplanned reoperations, and other complications were noted. Risk factors for unplanned reoperations were analyzed. RESULTS: Patients underwent MCGR implantation at the mean age of 7.2 years. The mean follow-up period was 37 months. Fourteen patients (46.7%) underwent an unplanned reoperation within the follow-up period, with a mean time to reoperation of 23 months after initial surgery (range, 5-48 months). Causes of unplanned reoperation were failure of rod distractions, proximal foundation failure, rod breakage, and infection. More frequent distractions (between 1 week and 2 months) were associated with a higher rate of reoperation than distraction frequencies between 3 and 6 months (71% vs. 25%). CONCLUSION: This is the largest series with the longest follow-up to date that examines the need for additional unplanned surgery after the initial procedure. It highlights that MCGR surgery can be associated with unplanned reoperations, and more frequent distractions may be a risk factor. Long-term comparative studies with traditional growing rod are required to evaluate the effectiveness of this implant. LEVEL OF EVIDENCE: 4.


Assuntos
Próteses e Implantes , Escoliose/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Magnetismo , Masculino , Radiografia , Reoperação , Estudos Retrospectivos , Escoliose/diagnóstico por imagem
20.
Spine (Phila Pa 1976) ; 42(9): E504-E508, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28441680

RESUMO

STUDY DESIGN: Experimental animal study. OBJECTIVE: To investigate the interaction between magnetically controlled growing rods (MCGRs) and magnetic resonance imaging (MRI). SUMMARY OF BACKGROUND DATA: Growing rod treatment through serial operations results in adverse effects on the patient and high treatment costs. MCGRs can be lengthened noninvasively in an outpatient setting and with lower treatment costs. When MRI investigation is required, the interaction between MCGRs and MRI is an issue of concern in patients with MCGRs. This study investigated MRI compatibility of MCGRs in an in vivo setting. METHODS: The study was conducted on three sheep. A standard posterior approach was used. One polyaxial pedicle screw at the ends was placed. Two sheep were instrumented unilaterally and one bilaterally with MCGRs. Temperature change was measured using MR-compatible sensors. Thoracic and lumbar MRIs were obtained using a 0.3 T MRI unit. MRI waves were applied for 45 minutes and temperature changes were recorded every 3 minutes. The lengths of the MCGRs were measured and anteroposterior and lateral spine radiographs were obtained pre- and postoperatively. RESULTS: No displacement in the positions of the MCGRs occurred. The lengths of the MCGRs did not change compared with the preoperative length. The ability of the MCGRs to elongate was not impaired after MRI scanning. There was a mean increase in the temperature of the MCGRs by 1.45°C (0.5-2.4°C). The MCGRs had a strong scattering effect on MRI of the related segments. CONCLUSION: This study indicated that lower magnet MRI is safe in an animal model with MCGRs, with no displacement of the rods and no changes in their length, no significant heating, and no adverse effects on the lengthening mechanism but with a significant scattering effect on visualization of the surrounding tissues. Further investigations are needed to clarify the exact distance where an MRI investigation of distant organs may be done without scattering. LEVEL OF EVIDENCE: N/A.


Assuntos
Fixadores Internos , Imageamento por Ressonância Magnética , Imãs , Animais , Modelos Animais de Doenças , Desenho de Equipamento , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/normas , Segurança do Paciente , Radiografia , Ovinos , Temperatura
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