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1.
Arch. pediatr. Urug ; 93(2): e317, dic. 2022. ilus, graf
Artigo em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1411577

RESUMO

La hipocondroplasia es una displasia esquelética caracterizada por baja estatura, constitución robusta, brazos y piernas desproporcionadamente cortos, manos y pies anchos y cortos, leve laxitud articular y macrocefalia. Los niños generalmente se presentan como pequeños, con velocidad de crecimiento disminuida, que conduce a una baja estatura y desproporción de las extremidades. La hipocondroplasia en la mayoría de los casos se hereda con carácter autosómico dominante, aunque se detectan numerosos casos esporádicos. El diagnóstico requiere una exhaustiva anamnesis y adecuada exploración física. Es importante valorar algunos indicadores de crecimiento como: peso para la edad, longitud/talla para la edad, relación entre peso y longitud/talla, velocidad de crecimiento, talla diana genética, medidas de segmentos corporales, entre otros. Las radiografías esqueléticas permiten diagnosticar la mayoría de las displasias óseas. Los estudios moleculares suelen ser la prueba de confirmación y se solicitan ante una sospecha diagnóstica. Es importante incluir las displasias óseas en el diagnóstico diferencial de la talla baja y tenerlas en cuenta ante cualquier caso de talla baja disarmónica con alteraciones fenotípicas. La hipocondroplasia en la actualidad, no es una indicación aprobada para tratamiento con hormona del crecimiento. Se presenta un caso clínico de una niña de 14 meses, con talla baja severa, desproporcionada, que presentó dificultades para llegar al diagnóstico definitivo de hipocondroplasia.


Hypochondroplasia is a skeletal dysplasia characterized by short height, robust build, disproportionately short arms and legs, short and broad hands and feet, mild joint laxity, and macrocephaly. Children generally show slow growth rate, which leads to short stature and limb disproportion. Hypochondroplasia is mostly inherited with an autosomal dominant character, although many sporadic cases have been detected. Diagnosis requires a thorough history and adequate physical examination. It is important to assess some growth indicators such as: weight for age, length/height for age, relationship between weight and length/height, growth speed, genetic target height, measurements of body segments, among others. Skeletal XRs can diagnose most bone dysplasias. Molecular studies are usually the confirmatory test and are requested when a diagnosis is suspected. It is important to include bone dysplasias in the differential diagnosis of short stature and to take them into account for any disharmonious short stature with phenotypic alterations. Hypochondroplasia is currently not an approved indication for growth hormone therapy. We present a clinical case of a 14-month-old girl, with a severe, disproportionate short stature, who presented difficulties in her definitive hypochondroplasia diagnosis.


A hipocondroplasia é uma displasia esquelética caracterizada por baixa estatura, constituição robusta, braços e pernas desproporcionalmente curtos, mãos e pés largos e curtos, frouxidão articular leve e macrocefalia. As crianças geralmente são pequenas, com diminuição da velocidade de crescimento, o que leva à baixa estatura e desproporção dos membros. A hipocondroplasia na maioria dos casos é herdada com caráter autossômico dominante, embora sejam detectados numerosos casos esporádicos. O diagnóstico requer uma história completa e um exame físico adequado. É importante avaliar alguns indicadores de crescimento como: peso para idade, comprimento/altura para idade, relação entre peso e comprimento/altura, taxa de crescimento, estatura alvo genético, medidas de segmentos corporais, entre outros. As radiografias esqueléticas permitem o diagnóstico da maioria das displasias ósseas. Os estudos moleculares são geralmente o teste de confirmação e são solicitados quando há suspeita de diagnóstico. É importante incluir as displasias ósseas no diagnóstico diferencial da baixa estatura e considerá-las em qualquer caso de baixa estatura desarmônica com alterações fenotípicas. A hipocondroplasia não é atualmente uma indicação aprovada para o tratamento com hormônio de crescimento. Apresenta-se o caso clínico de uma menina de 14 meses, com baixa estatura grave e desproporcional, que apresentou dificuldades em chegar ao diagnóstico definitivo de hipocondroplasia.


Assuntos
Humanos , Feminino , Lactente , Osso e Ossos/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Nanismo/diagnóstico , Lordose/diagnóstico
2.
Rev. bras. ortop ; 57(6): 947-952, Nov.-Dec. 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1423647

RESUMO

Abstract Objectives To verify if there is a difference in postural hypervigilance in sitting in individuals with and without low back pain. Additionally, to observe whether there is a difference in the perception of correct sitting posture between individuals with low back pain and without low back pain. Methods The present study has a cross-sectional observational design, as a sample size of 92 individuals, later divided equally into two groups (with low back pain and without low back pain). Two instruments were used: the hypervigilance scale to analyze the frequency that volunteers correct their sitting posture during the day, and posture scans to investigate the perception of volunteers about the correct sitting posture. The data were submitted to the Shapiro-Wilk Normality test. To compare the values of Hypervigilance Scale, the Mann-Whitney, Chi-Square, and Fisher Exact tests were used to assess correct sitting posture. Results There was no significant difference between postural hypervigilance in sitting between individuals with low back pain and without low back pain. There was no significant difference between the choice of correct sitting posture between the group of individuals with and without low back pain. Conclusion There is no difference between the choice of correct sitting posture and the amount of postural hypervigilance in individuals with or without low back pain.


Resumo Objetivos Verificar se há diferença na hipervigilância postural sentada em indivíduos com e sem dor lombar. Além disso, observar se há diferença na percepção da postura correta sentada entre indivíduos com dor lombar e sem dor lombar. Métodos O presente estudo possui delineamento observacional transversal, como tamanho amostral de 92 indivíduos, posteriormente divididos igualmente em dois grupos (com dor lombar e sem dor lombar). Foram utilizados dois instrumentos: a escala de hipervigilância para analisar a frequência que voluntários corrigem a postura sentada no dia; e o quadro de posturas para investigar a percepção dos voluntários sobre a postura correta sentada. Os dados foram submetidos ao teste de Normalidade de Shapiro-Wilk. Para comparar os valores da Escala de Hipervigilância foi utilizado o teste de Mann-Whitney e o teste Qui-quadrado e exato de Fisher para avaliação da postura correta sentada. Resultados Não houve diferença significativa entre a hipervigilância postural sentada entre indivíduos com dor lombar e sem dor lombar. Não houve diferença significativa entre a escolha da postura correta sentada entre o grupo de indivíduos com e sem dor lombar. Conclusão Não há diferença entre a escolha da postura correta sentada e quantidade de hipervigilância postural em indivíduos com ou sem dor lombar.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Postura , Dor Lombar/fisiopatologia , Postura Sentada , Lordose/diagnóstico
3.
Genet Test Mol Biomarkers ; 25(10): 674-682, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34672771

RESUMO

Background: Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) tanatophoric dysplasias. This study was designed to standardize and implement a high-resolution melting (HRM) technique to identify mutations in patients with these phenotypes. Methods: Initially, FGFR3 gene segments from 84 patients were PCR amplified and subjected to Sanger sequencing. Samples from 29 patients positive for mutations were analyzed by HRM. Results: Twelve of the patients FGFR3 mutations had ACH (six g.16081 G > A, three g.16081 G > C and three g.16081 G > A + g.16002 C > T); thirteen of patients with HCH had FGFR3 mutations (eight g.17333 C > A, five g.17333 C > G and five were negative); and four patients with DTI had FGFR3 mutations (three g.13526 C > T and one g.16051G > T and two patients with DTII (presented mutation g.17852 A > G). When analyzing the four SDs altogether, an overlap of the dissociation curves was observed, making genotyping difficult. When analyzed separately, however, the HRM analysis method proved to be efficient for discriminating among the mutations for each SD type, except for those patients carrying additional polymorphism concomitant to the recurrent mutation. Conclusion: We conclude that for recurrent mutations in the FGFR3 gene, that the HRM technique can be used as a faster, reliable and less expensive genotyping routine for the diagnosis of these pathologies than Sanger sequencing.


Assuntos
Acondroplasia/diagnóstico , Osso e Ossos/anormalidades , Análise Mutacional de DNA/métodos , Nanismo/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Lordose/diagnóstico , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Acondroplasia/genética , Adolescente , Criança , Pré-Escolar , Nanismo/genética , Feminino , Humanos , Lactente , Recém-Nascido , Deformidades Congênitas dos Membros/genética , Lordose/genética , Masculino , Mutação
4.
Fisioterapia (Madr., Ed. impr.) ; 43(4): 186-191, jul.- ago. 2021. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-219135

RESUMO

Antecedentes y objetivo Actualmente, se considera la radiografía como la prueba estándar para medir la lordosis lumbar; sin embargo, requiere de una preparación especial y, además, existe el riesgo de exposición a radiación ionizante la cual es nociva para la salud. El costo en los equipos utilizados y la exposición a la radiación son factores que limitan la aplicación de este tipo de pruebas diagnósticas. La fotogrametría es capaz de identificar las particularidades de la postura corporal que permiten reconocer ángulos como el de la lordosis lumbar. Se hace necesario ampliar el conocimiento acerca de la fiabilidad a partir de estándares que proporcionen al profesional en fisioterapia protocolos con medidas reproducibles que le faciliten la toma de decisiones relacionadas con esta condición. Por lo tanto, el objetivo de este estudio es determinar la fiabilidad inter-evaluador de tres formas de fotogrametría para medir la lordosis lumbar en personas con dolor lumbar no específico. Metodología Se realizó un análisis de lordosis lumbar mediante dos programas (Kinovea y ADiBAS Posture) a una muestra de 26 personas con dolor lumbar. Se empleó Kinovea para la evaluación en 2D por medio del test de flechas y el ángulo lordótico. ADiBAS Posture se utilizó para calcular la lordosis en 3D. Tres evaluadores hicieron medidas a partir de las fotografías, usando tres protocolos de medición definidos para el estudio. Resultados El análisis llevado a cabo a través de ADiBAS Posture presenta un coeficiente de correlación intraclase (CCI) muy bueno, mientras que el test de flechas y ángulo lordótico resultaron tener CCI buenos. Por otra parte, la prueba de ángulo lordótico presentó diferencias significativas mientras que el de flechas y el análisis efectuado en 3D no presentaron diferencias significativas (p > 0,05). Conclusiones El análisis en 3D y el test de flechas para determinar la lordosis lumbar son pruebas con un nivel de fiabilidad muy bueno (AU)


Background and objective Radiography is currently considered the gold standard test for measuring lumbar lordosis. However, it requires special preparation and there is also a risk of exposure to ionizing radiation, which is harmful to health. The cost of the equipment used and exposure to radiation are factors that limit the application of this type of diagnostic test. Photogrammetry can identify distinctive features allowing recognition of angles such as those of lumbar lordosis. Knowledge needs to be increased on reliability based on standards that provide the physiotherapist protocols with reproducible measures that facilitate decision-making related to this condition. Therefore, the objective of this study is to determine the inter-rater reliability of three forms of photogrammetry to measure lumbar lordosis in people with non-specific low back pain. Methodology An analysis of lumbar lordosis was carried out with two software programmes (Kinovea and ADiBAS Posture) in a sample of 26 people. Kinovea was used for 2D evaluation by means of the arrow test and the lordotic angle. ADiBAS Posture was used to measure lordosis in 3D. Three assessors made measurements from the photographs using the three measurement protocols defined for the study. Results ADiBAS Posture analysis showed extremely good CCI, while the arrow and lordotic angle test proved to have good CCIs. On the other hand, the lordotic angle test showed significant differences while the arrow test and the 3D analysis showed no significant differences (p > 0.05). Conclusions The 3D analysis and arrow test to determine lumbar lordosis are tests with a particularly good level of reliability (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Variações Dependentes do Observador , Fotogrametria/métodos , Lordose/diagnóstico , Dor Lombar/diagnóstico , Reprodutibilidade dos Testes , Estudos Transversais
5.
Sci Rep ; 11(1): 13748, 2021 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-34215787

RESUMO

Back pain may be related to an improper sitting position. The aim of the study was to assess the sagittal curvatures of the spine in a sitting position in children with generalized joint hypermobility (GJH). The study included 302 children aged 8-14 years. The sagittal curvatures of the spine (sacral slope, lumbar lordosis, thoracic kyphosis with its lower and upper part) were assessed using the Saunders digital inclinometer. In order to assess GJH a 9-point Beighton scale was used. The study revealed no significant differences (p > 0.05) in sagittal curvatures of the spine in a relaxed sitting position between children with and without GJH. Regardless of the occurrence of GJH, kyphotic alignment of the spine was noted in a relaxed sitting. GJH does not affect the position of the trunk in a sagittal plane in a relaxed sitting position in children aged 8-14 years. A relaxed sitting position in children with and without GJH is characterized by a kyphotic position of the spine caused by an improper position of pelvis and lumbar segment of the spine.


Assuntos
Instabilidade Articular/diagnóstico , Cifose/diagnóstico , Lordose/diagnóstico , Postura Sentada , Adolescente , Dor nas Costas/diagnóstico , Dor nas Costas/patologia , Criança , Feminino , Humanos , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/patologia , Cifose/diagnóstico por imagem , Cifose/patologia , Lordose/diagnóstico por imagem , Lordose/patologia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/patologia , Masculino , Postura/fisiologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/patologia
6.
Am J Med Genet A ; 185(1): 73-82, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33051983

RESUMO

Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school-age children, as limb-to-trunk disproportion and is often mild and easily overlooked during infancy. We report experiences from a single-center UK HCH-cohort of 31 patients, the rate of antenatal HCH detection in our cohort (13/31, 41.9%) and describe relevant case-data for this subset of 13 patients. Inclusion criteria were patients with confirmed molecular HCH diagnosis (by age 3 years) and presenting with short long-bones or large head size on antenatal ultrasound scan. We then conducted a systematic literature review using PUBMED and MEDLINE, analyzing patients with HCH and related antenatal findings. Antenatally suspected (with subsequent molecular confirmation) HCH has been reported 15 times in the literature (2004-2019). Key markers (consistent in both groups) included reduced; femur length, humeral length and increased; biparietal diameter and head circumference. HCH is increasingly detected both antenatally and in infancy, contrary to previous descriptions. This is likely due to greater HCH awareness, improved imaging, and easier molecular testing. Thus, one should consider HCH outside the classical presenting period. Studying the natural history of younger patients with HCH is important with the advent of several targeted FGFR3 therapies currently in trials for Achondroplasia, that may soon be trialed in HCH.


Assuntos
Acondroplasia/diagnóstico , Osso e Ossos/anormalidades , Nanismo/diagnóstico , Diagnóstico Precoce , Deformidades Congênitas dos Membros/diagnóstico , Lordose/diagnóstico , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Acondroplasia/genética , Acondroplasia/patologia , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Nanismo/diagnóstico por imagem , Nanismo/genética , Nanismo/patologia , Feminino , Fêmur/diagnóstico por imagem , Fêmur/patologia , Humanos , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/patologia , Lordose/diagnóstico por imagem , Lordose/genética , Lordose/patologia , Mutação/genética , Gravidez , Reino Unido
7.
J Manipulative Physiol Ther ; 44(1): 35-41, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33248752

RESUMO

OBJECTIVE: The purpose of this study was to investigate the inter-tester reliability of lumbar lordosis posture using a novel screening device. METHODS: A total of 33 healthy young male participants participated in the study. Two examiners measured the regional upper and lower lumbar lordosis angles of the participants in the standing position using a flexible ruler. The bent flexible ruler maintained a fixed shape and was transferred to a protractor for angle measurement. Two examiners classified each participant into one of 4 lumbar spine categories and measured the upper and lower regional lumbar lordosis angles. RESULTS: The agreement level between the 2 examiners in assessing healthy participants was 87.9%. The calculated kappa coefficient was 0.79 (95% CI = 0.86-0.97), reflecting a substantial level of agreement. CONCLUSION: Our results suggest that our novel screening device for assessing upper and lower lumbar angles showed good inter-tester reliability in posture classification. Our findings may be useful for health care professionals for managing sagittal lumbar posture in asymptomatic younger individuals; however, more testing is still needed.


Assuntos
Lordose/diagnóstico , Vértebras Lombares/fisiologia , Região Lombossacral/fisiologia , Postura/fisiologia , Posição Ortostática , Adulto , Humanos , Lordose/classificação , Masculino , Amplitude de Movimento Articular , Reprodutibilidade dos Testes
8.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 4042-4045, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33018886

RESUMO

The millennial age group (18 to 30 years) spend at least 6 hours sitting, either in college or at their workspace. High screen time as a routine, is the major cause for numerous spinal problems. Despite the wide research carried out on postural abnormalities, there exists numerous unrequited queries with regards to lumbar lordosis estimations, due to indeterminate parameters such as age, gender, lifestyle and diet. This work emphasizes the proficient method by observing the posture of a person for early detection of obliteration in Lumbar Lordosis. This further contributes to efficient diagnosis and treatment of spine ailments. With a novel approach to hardware using the myRIO hardware coupled with LabVIEW for interactive interface, the calibration is enhanced using machine learning (ML) - kNN Classifier. The use of machine learning accounts for the variations in the ideal angles of segmented sagittal measures with respect to different subjects. The device is developed to be a non-invasive, user friendly instrument to analyse the casual seated posture trends of the subject. The male subjects are expected to show the tilt angles in the range of -16.3 to -17.2 degrees and similar threshold for females are -15.8 to -16.8 degrees. Out of 120 subjects taken into consideration, the device could accurately classify subjects with obliterated or normal lumbar lordosis). An accuracy and f1- score of 94% and 90% respectively was achieved by the ML model.


Assuntos
Lordose , Animais , Feminino , Estilo de Vida , Lordose/diagnóstico , Masculino , Postura , Postura Sentada , Coluna Vertebral
9.
J Manipulative Physiol Ther ; 43(8): 760-767, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32888701

RESUMO

OBJECTIVE: The purpose of this study was to compare 2 alternative methods, the radiologic Harrison Posterior Tangent Method (HPTM) and the nonradiologic Spinal Mouse (SM), to the Cobb angle for measuring lumbar lordosis. METHODS: Sixteen participants with previously existing lateral lumbopelvic radiographs underwent nonradiographic lordosis assessment with a Spinal Mouse. Then 2 investigators analyzed each radiograph twice using the Harrison Posterior Tangent Method and Cobb angle. Correlations were analyzed between HPTM, the Cobb angle, and SM using the Spearman rank correlation coefficient; intraexaminer and interexaminer agreement were analyzed for HPTM and the Cobb angle using intraclass correlation coefficients. RESULTS: The HPTM correlated highly with the Cobb angle (Spearman ρ = 0.936, P < .001); SM had moderate to strong correlations with the Cobb angle (ρ = 0.737, P = .002) and HPTM (ρ = 0.707, P = .003). Intraexaminer and interexaminer agreement for the Cobb angle and HPTM were excellent (all intraclass correlation coefficients > 0.90). One participant had slight kyphosis according to HPTM and SM analyses (which consider the entire lumbar region), whereas the Cobb angle, based only on L1 and L5, reported mild lordosis for that participant. CONCLUSION: In this sample, HPTM measurements showed high correlation with the commonly used Cobb angle, but this method requires more time and effort, and normal values have not been established. The SM may be an alternative when radiographs are inappropriate, but it measures soft tissue contours rather than lordosis itself.


Assuntos
Diagnóstico por Imagem/métodos , Lordose/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Região Lombossacral/diagnóstico por imagem , Pesos e Medidas , Adulto , Animais , Periféricos de Computador , Equipamentos para Diagnóstico , Diagnóstico por Imagem/instrumentação , Feminino , Humanos , Cifose/diagnóstico , Cifose/diagnóstico por imagem , Lordose/diagnóstico , Masculino , Pessoa de Meia-Idade , Radiografia , Pesos e Medidas/instrumentação , Adulto Jovem
10.
Sci Rep ; 10(1): 6718, 2020 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-32317710

RESUMO

Purpose Global sagittal imbalance with lumbar hypo-lordosis leads to various problems in elderly populations and is often treated with long-segment fusion and osteotomy. These highly invasive procedures result in a wide range of rigid spines with a high rate of complications. Although some reports have mentioned the primary aetiology of hypo-lordosis, there is limited evidence. Thus, understanding the exact underlying mechanism is required for developing minimally invasive procedures. This study aimed to investigate the factors related to lumbar lordosis (LL) in elderly people. Methods A total of ninety consecutive patients aged ≥ sixty years at a single spine centre were included. We measured LL, the anterior spinal column height consisting of vertebral bodies and intervertebral discs from L1 to L5 (ASC-5) and the sum of the spinous process heights from L1 to L5 (SP-5) with computed tomography in a supine position. The relationship between LL and the SP-5/ASC-5 ratio, SP-5, and ASC-5 was analysed. Results The Pearson correlation coefficients between LL and the SP-5/ASC-5 ratio, SP-5, and ASC-5 were -0.80 (p < 0.001), -0.43 (p < 0.001) and 0.36 (p < 0.001), respectively. Conclusion LL was significantly related to the SP-5/ASC-5 ratio of the lumbar spine in elderly people. In addition to shortening of the ASC, elongation of the SP-5 also contributed to a loss of LL.


Assuntos
Lordose/patologia , Vértebras Lombares/patologia , Idoso , Feminino , Humanos , Lordose/diagnóstico , Lordose/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X
11.
J Orthop Surg (Hong Kong) ; 28(1): 2309499019896882, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31916485

RESUMO

PURPOSE: The aim of this study is to evaluate the impact of plating level on the loss of cervical lordosis (LCL) after laminoplasty with skipped-level plating. METHODS: This retrospective study included patients who underwent alternative skipped-level plating laminoplasty from C3 to C6. Patients were divided into two groups according to the plating level. Group 1 had miniplate fixed at C3 and C5 (C3/C5 group), while patients in group 2 were fixed at C4 and C6 (C4/C6 group). The outcome of interest was the difference of LCL between the two groups; meanwhile, kyphosis development after laminoplasty was also compared. RESULTS: A total of 70 patients were included in our study with a mean age of 60.44 ± 9.97 years. The median follow-up was 15 (12, 16) months. Median lordosis was 15.43° (9.35°, 22.23°) before surgery and 9.88° (4.15°, 18.94°) after, with a median LCL of 4.48° (-0.66°, 8.11°). There were 17 patients in the C3/C5 group, whereas 53 patients in the C4/C6 group. While preoperative C2-C7 Cobb's angle was comparable between the two groups (15.32° (9.73°, 23.84°) vs. 15.51° (9.03°, 21.70°), p = 0.864), there were statistical differences regarding postoperative C2-C7 Cobb's angle (6.54° (2.49°, 16.42°) vs. 10.62° (5.89°, 18.85°), p = 0.006) and LCL (4.74° (4.17°, 12.03°) vs. 4.07° (-1.89°, 6.69°), p = 0.034) between the C3/C5 group and the C4/C6 group. In all, 94.1% (16 of 17) of patients showed some degree of LCL after laminoplasty in the C3/C5 group, which was significantly higher when compared with 64.2% (34 of 52) of C4/C6 group (p = 0.038). Before surgery, there were no kyphosis patients in either the C3/C5 group or the C4/C6 group. Postoperatively, four patients (23.5%) developed kyphotic alignment in the C3/C5 group, but only one (1.9%) in the C4/C6 group (p = 0.013). CONCLUSIONS: Cervical alignment was compromised after laminoplasty. When alternative skipped-level plating is adopted in laminoplasty from C3 to C6, plating at C4/C6 may better preserve cervical lordosis than plating at C3/C5 after surgery.


Assuntos
Placas Ósseas , Vértebras Cervicais/cirurgia , Laminoplastia/métodos , Lordose/cirurgia , Adulto , Idoso , Vértebras Cervicais/diagnóstico por imagem , Feminino , Humanos , Lordose/diagnóstico , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Retrospectivos
12.
Eur J Med Genet ; 63(2): 103659, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31048079

RESUMO

Achondroplasia (ACH) and hypochondroplasia (HCH) are genetic bone disorders known to be caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Both conditions share radiographic and phenotypical features. HCH is a milder form of ACH. Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region. Other rare mutations have been reported, however no additional hot-spot has been identified. We report an 8-month-old infant, with the heterozygous mutation, c.1043C > G, leading to an amino acid change from serine at 348 to cysteine (p.Ser348Cys). Clinical diagnosis of the patient is intertwined with "mild ACH" or "severe HCH". He did not demonstrate acanthosis nigricans (AN). This mutation has been reported in two different patients and it is located in the Ig-III domain of the FGFR3 region near other mutations associated with ACH. Among the two the 8-year old one also demonstrated AN without evindece of hyperinsulinem. This report emphasizes the benefit of whole gene sequencing for FGFR3 in individuals with suspected "mild ACH/severe HCH". This child will be monitored for future occurrence of AN.


Assuntos
Acondroplasia/diagnóstico , Acondroplasia/genética , Osso e Ossos/anormalidades , Nanismo/diagnóstico , Nanismo/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Lordose/diagnóstico , Lordose/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Acantose Nigricans , Acondroplasia/diagnóstico por imagem , Sequência de Aminoácidos , Osso e Ossos/diagnóstico por imagem , Nanismo/diagnóstico por imagem , Heterozigoto , Humanos , Hiperinsulinismo , Lactente , Deformidades Congênitas dos Membros/diagnóstico por imagem , Lordose/congênito , Lordose/diagnóstico por imagem , Masculino , Fenótipo , Mutação Puntual , Domínios Proteicos , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/sangue , Análise de Sequência de DNA
13.
Spine (Phila Pa 1976) ; 45(7): E397-E405, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-31651683

RESUMO

STUDY DESIGN: Retrospective review of a prospective database. OBJECTIVE: The aim of this study was to evaluate postop clinical recovery among adult spinal deformity (ASD) patients between frailty states undergoing primary procedures SUMMARY OF BACKGROUND DATA.: Frailty severity may be an important determinant for impaired recovery after corrective surgery. METHODS: It included ASD patients with health-related quality of life (HRQLs) at baseline (BL), 1 year (1Y), and 3 years (3Y). Patients stratified by frailty by ASD-frailty index scale 0-1(no frailty: <0.3 [NF], mild: 0.3-0.5 [MF], severe: >0.5 [SF]). Demographics, alignment, and SRS-Schwab modifiers were assessed with χ/paired t tests to compare HRQLs: Scoliosis Research Society 22-question Questionnaire (SRS-22), Numeric Rating Scale (NRS) Back/Leg Pain, Oswestry Disability Index (ODI). Area-under-the-curve (AUC) method generated normalized HRQL scores at baseline (BL) and f/u intervals (1Y, 3Y). AUC was calculated for each f/u, and total area was divided by cumulative f/u, generating one number describing recovery (Integrated Health State [IHS]). RESULTS: A total of 191 patients were included (59 years, 80% females). Breakdown of patients by frailty status: 43.6% NF, 40.8% MF, 15.6% SF. SF patients were older (P = 0.003), >body mass index (P = 0.002). MF and SF were significantly (P < 0.001) more malaligned at BL: pelvic tilt (NF: 21.6°; MF: 27.3°; SF: 22.1°), pelvic incidence and lumbar lordosis (7.4°, 21.2°, 19.7°), sagittal vertical axis (31 mm, 87 mm, 82 mm). By SRS-Schwab, NF were mostly minor (40%), and MF and SF markedly deformed (64%, 57%). Frailty groups exhibited BL to 3Y improvement in SRS-22, ODI, NRS Back/Leg (P < 0.001). After HRQL normalization, SF had improvement in SRS-22 at year 1 and year 3 (P < 0.001), and NRS Back at 1Y. 3Y IHS showed a significant difference in SRS-22 (NF: 1.2 vs. MF: 1.32 vs. SF: 1.69, P < 0.001) and NRS Back Pain (NF: 0.52, MF: 0.66, SF: 0.6, P = 0.025) between frailty groups. SF had more complications (79%). SF/marked deformity had larger invasiveness score (112) compared to MF/moderate deformity (86.2). Controlling for baseline deformity and invasiveness, SF showed more improvement in SRS-22 IHS (NF: 1.21, MF: 1.32, SF: 1.66, P < 0.001). CONCLUSION: Although all frailty groups exhibited improved postop disability/pain scores, SF patients recovered better in SRS-22 and NRS Back. Despite SF patients having more complications and larger invasiveness scores, they had overall better patient-reported outcomes, signifying that with frailty severity, patients have more room for improvement postop compared to BL quality of life. LEVEL OF EVIDENCE: 3.


Assuntos
Fragilidade/cirurgia , Lordose/cirurgia , Cuidados Pós-Operatórios/tendências , Recuperação de Função Fisiológica/fisiologia , Fusão Vertebral/tendências , Adulto , Idoso , Feminino , Seguimentos , Fragilidade/diagnóstico , Fragilidade/epidemiologia , Humanos , Lordose/diagnóstico , Lordose/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Fusão Vertebral/efeitos adversos , Inquéritos e Questionários , Fatores de Tempo , Resultado do Tratamento
14.
J Manipulative Physiol Ther ; 42(8): 594-600, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31771835

RESUMO

OBJECTIVE: The purpose of this study was to investigate the global and regional lumbar spine and pelvis postural alignment in standing individuals with a flat lumbar posture using an inertial measurement unit (IMU) system. METHODS: A total of 80 symptomatic young volunteers (25 men and 55 women in their early 20s) were recruited at Inje University in Gimhae, South Korea for this study. Participants stood in a comfortable posture for 5 seconds with IMUs on the T10, L3, and S2 level. Participants were then categorized into 3 groups according to the global lumbar lordosis (GLL) angle (T10-S2): <20°, 20° ≤ GLL angle < 30°, and 30° ≤ GLL angle < 40°. We compared the GLL and regional lumbar lordosis (RLL) angles among the 3 groups. RESULTS: As GLL increased, RLL angles (upper, P = .001; lower, P < .001) tended to increase, whereas the sacrum angle decreased (P < .001). A stepwise regression model showed that the sacrum angle was the single best predictor of GLL in standing participants. Based on IMU measurements, participants with GLL <20° are considered representative of participants with a flat lumbar posture. CONCLUSION: Posture measurements in a standing position conducted to assess lordosis should consider the relationship between GLL and RLL rather than GLL or RLL alone. We found that S2 was the best predictor of GLL.


Assuntos
Vértebras Lombares/fisiologia , Pelve/fisiologia , Postura/fisiologia , Posição Ortostática , Feminino , Humanos , Lordose/diagnóstico , Masculino , Adulto Jovem
15.
J Orthop Surg (Hong Kong) ; 27(3): 2309499019885190, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31714180

RESUMO

PURPOSE: Global sagittal spinal alignment undergoes changes on the basis of sagittal malalignment (trunk inclined forward) in natural degenerative progression. We hypothesized that this change would associate with the disease state of the degenerative lumbar spondylolisthesis (DS). This study aimed to evaluate the global sagittal spinal alignment of low-grade DS by classifying in accordance with sagittal vertical axis (SVA). METHODS: The DS group was classified into three types according to the adult spinal deformity classification: type 1, SVA < 40 mm; type 2, 40 mm ≤ SVA < 95 mm; and type 3, 95 mm ≤ SVA. Age and sagittal spinal parameters (thoracic kyphosis, lumbar lordosis (LL), sacral slope (SS), pelvic tilt (PT), and pelvic incidence (PI)) were compared among three types. RESULTS: There were statistically significant differences in age, LL, PI, and PT among the three types. In comparison between two types, there was a statistically significant difference between type 1 and type 2 and between type 1 and type 3, but not between type 2 and type 3 in these parameters. PI tended to increase as the type increases. Furthermore, there was significant difference between types 1 and 3. CONCLUSION: We evaluated the features of the DS types classified by sagittal alignment. Large PI is one of the risk factors for SVA deterioration of DS. PI may be involved in the onset and progression of DS.


Assuntos
Cifose/diagnóstico , Lordose/diagnóstico , Vértebras Lombares/diagnóstico por imagem , Postura/fisiologia , Espondilolistese/diagnóstico , Idoso , Feminino , Humanos , Cifose/fisiopatologia , Lordose/fisiopatologia , Masculino , Estudos Retrospectivos , Espondilolistese/fisiopatologia
16.
Medicine (Baltimore) ; 98(39): e17316, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574861

RESUMO

The purpose of this study was to investigate the effect of intraoperative positions in single-level (L4-5) transforaminal lumbar interbody fusion (TLIF) on segmental and overall lumbar lordosis (LL) in patients with lumbar degenerative disease. Thirty-eight consecutive patients who had undergone single-segment (L4-5) TLIF with 0° polyetheretherketone (PEEK) cage and pedicle screw fixation were evaluated. Twenty patients underwent surgery on the four-poster type frame with hip flexion at 30° (Group I) and 18 patients were operated on a Jackson spinal table to adjust their hip flexion to 0° (Group II). Preoperative standing, intraoperative prone, and postoperative standing lateral radiographs were obtained in each patient. The overall and segmental LL were analyzed according to the position in which the patients were placed for their operation and results compared between Groups I and II. Intraoperative intervertebral segmental LL at L4-5 and L5-S1 was increased in Group II than in Group I, whereas postoperative intervertebral segmental LL at L4-5 (fused level) was increased LL. In Group I intraoperative intervertebral segmental LL at L4-5 did not achieve sufficient lordosis, whereas postoperative intervertebral segmental LL at L3-4 was increased. The overall spinal alignment was unaffected by the decreased segmental LL in the fused level owing to the compensation of the upper adjacent segments. The more the hip was extended intraoperatively, the more the segmental lordosis increased in the lower lumbar spine. Thus, selecting the appropriate surgical table and hip position are very important. Underachievement of segmental lordosis leads to the acceleration of upper adjacent segment load.


Assuntos
Cuidados Intraoperatórios/métodos , Lordose , Vértebras Lombares , Mesas Cirúrgicas , Posicionamento do Paciente/métodos , Fusão Vertebral , Idoso , Feminino , Humanos , Lordose/diagnóstico , Lordose/fisiopatologia , Lordose/cirurgia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/patologia , Vértebras Lombares/cirurgia , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Radiografia/métodos , Amplitude de Movimento Articular , Fusão Vertebral/efeitos adversos , Fusão Vertebral/métodos , Espondilolistese/cirurgia
17.
J Orthop Surg (Hong Kong) ; 27(3): 2309499019876999, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31597519

RESUMO

INTRODUCTION: The cervical spine has the largest sagittal motion in the whole spine, and cervical alignment affects the thoracic sagittal alignment. However, the effects of cervical flexion and extension on thoracic sagittal alignment have not been investigated in detail. The purpose of this study was to analyze the change of thoracic sagittal alignment following cervical flexion and extension. SUBJECTS AND METHODS: A total of 55 consecutive patients (42 men and 13 women; average age 49.1 years) who presented to our department with spinal degenerative disease between January 2016 and September 2017 were enrolled in our study. Subjects with a history of trauma, infection, tumor, inflammatory disease, ossification, or cervical deformities, and those who had undergone spinal surgery were excluded. The following parameters were analyzed: occipito-axial angle (O-C2), C2 slope (C2S), C2-C7 angle, T1 slope (T1S), thoracic kyphosis, T1-T4 angle, T5-T8 angle, T9-T12 angle, lumbar lordosis, sacral slope, pelvic tilt in cervical flexion, neutral, and extension. RESULTS: Cervical flexion significantly decreased O-C2, C2-C7 angles and T1S, and increased C2S. Cervical extension conversely changed these parameters. At cervical flexion, the correlation of C2-C7 angle with thoracic parameters was maintained, except for the T1-T4 angle. At cervical extension, the correlation was observed with T1S and T1-T4 angle. CONCLUSION: Cervical flexion affects the T1S and T5-T8 angle, but there is no significant change in T1-T4 and T9 and lower spino-pelvic columns. This study suggests that T2-T4 can be considered as a stable distal end when cervical long fixation for corrective surgery is performed.


Assuntos
Vértebras Cervicais/cirurgia , Cifose/cirurgia , Lordose/cirurgia , Vértebras Torácicas/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/fisiopatologia , Feminino , Humanos , Cifose/diagnóstico , Lordose/diagnóstico , Masculino , Pessoa de Meia-Idade , Postura , Radiografia , Amplitude de Movimento Articular , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/fisiopatologia
18.
Work ; 64(3): 545-550, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658087

RESUMO

BACKGROUND: Sagittal spine curvature deformities are common among elementary school students due to long malposition and lack of physical activity. OBJECTIVES: This study aims to compare sagittal spine deformities among first graders (young and elder school students) in elementary schools. METHODS: The sagittal spinal curvatures of 45 young school students aged 5-7 years and 50 elder school students aged 9-11 years were examined by using spinal mouse device. RESULTS: Independent sample t-test shows statistically significant differences in sagittal spinal deformities with increased thoracic kyphosis and spinal flexion in young children than elder children (P = .000, t = 10.72). However, young children show lesser lordosis than elder children (P = .001, t = -4.47). In addition, the young children established a higher significant coefficient of compensation (CC) than elder children (P = .000 t = 12.58). CONCLUSION: The results suggest that the forward flexion of the trunk is more common among young children than elder children. This may be attributed to differences in postural awareness and way of sitting among students of elementary school. So, it is recommended to encourage the proper postures among students of first graders especially young children.


Assuntos
Diagnóstico por Computador , Exame Físico/instrumentação , Curvaturas da Coluna Vertebral/diagnóstico , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Cifose/diagnóstico , Lordose/diagnóstico , Masculino , Exame Físico/métodos , Postura , Fatores de Risco , Comportamento Sedentário
19.
J Orthop Surg (Hong Kong) ; 27(3): 2309499019875539, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31566108

RESUMO

PURPOSE: This study aimed to analyze the effect of the thoracic anteroposterior diameter (TAPD) and pelvic anteroposterior diameter (PAPD) on global sagittal alignment in asymptomatic patients with normal sagittal alignment. PATIENT SAMPLE: The study investigated 2042 adult patients who initially presented at our hospital with a hip and knee problem without history of symptoms related to the entire spine. Only 57 patients with normal global sagittal alignment (C2-7 sagittal vertical axis (SVA) and C7-S1 SVA of <10 mm) were considered. METHODS: The whole-spine standing lateral radiographs were obtained to analyze the following parameters: pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), lumbar lordosis (LL), thoracic inlet angle (TIA), T1 slope, cervical spinal parameters (angle of C0-2, C2-7, and C0-7), TAPD, and PAPD. Statistical analysis was performed using Pearson correlation coefficients and multiple regression analyses. RESULTS: All the parameters showed a normal distribution. TAPD had a significant relationship with thoracic kyphosis (TK; r = 0.458), TIA (r = 0.677), and C0-2 angle (r = 0.294) but no significant relationship with T1 slope and other cervical parameters. PAPD had a significant relationship with PI (r = 0.309) and PT (r = 0.463) but no significant relationship with LL, SS, and TK. The multiple regression analysis showed that TIA = 21.974 + 0.405 (TK) + 0.188 (TAPD) (p < 0.0001). CONCLUSIONS: TAPD and PAPD are associated with TIA, TK, C0-2 angle, PI, and PT, all of which act as key factors in spinal sagittal alignment. Although they did not directly correlate with other cervical parameters, T1 slope, and LL, TAPD and PAPD might have indirect effects on cervical and lumbar spinal sagittal alignment through their relationships with TIA, TK, and PI.


Assuntos
Cifose/diagnóstico , Lordose/diagnóstico , Pelve/diagnóstico por imagem , Radiografia/métodos , Vértebras Torácicas/diagnóstico por imagem , Adulto , Idoso , Vértebras Cervicais/diagnóstico por imagem , Feminino , Humanos , Incidência , Vértebras Lombares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Postura , Adulto Jovem
20.
BMC Musculoskelet Disord ; 20(1): 181, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-31039764

RESUMO

OBJECTIVE: The effects of dural release on extended laminoplasty for the treatment of multi-level cervical myelopathy were explored and discussed. METHOD: Patients, who underwent extended laminoplasty combined with dural release for the treatment of multi-level cervical myelopathy (35 cases, group A), were compared with patients who underwent simple extended laminoplasty (38 cases, group B). The JOA score, improvement rate, VAS score, distance of retroposition of the spinal cord, cervical lordosis were compared between the two groups. RESULTS: Dural laceration occurred to five patients during surgery, three in group A and two in group B; cerebrospinal fluid leakage occurred to five patients, three in group A and two in group B. All patients were followed up for 10 to 48 months (mean 20.3 months). JOA scores and VAS scores in the last follow up period were significantly improved in the two groups than preoperative scores (p < 0.05). The improvement rate and JOA scores in group A were significantly higher than group B, while VAS scores in group A were significantly lower than group B (p < 0.05). There were no significant differences in cervical lordosis in the two groups in the last follow up (p > 0.05), and the distance of retroposition of the spinal cord in group A was higher than B (p < 0.05). No shut-up of the 'door' of vertebral lamina occurred in the period of follow-up. CONCLUSION: Dural release on extended laminoplasty can achieve retroposition of the spinal cord for multi-level cervical myelopathy, which is more effective than simple extended laminoplasty.


Assuntos
Vértebras Cervicais/cirurgia , Dura-Máter/cirurgia , Laminoplastia/métodos , Lordose/cirurgia , Doenças da Medula Espinal/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Lordose/diagnóstico , Lordose/etiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Doenças da Medula Espinal/complicações , Doenças da Medula Espinal/diagnóstico , Resultado do Tratamento
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