Reliability and validity of the pediatric adaptation of the mJOA scale for evaluating cervical spine disorders.

PURPOSE: The study aimed to evaluate the validity and reliability of the pediatric adaptation of the Japanese Orthopedic Association (mJOA) scale in pediatric patients with various cervical spine pathologies. METHODS: Initial assessments were performed by a neurosurgeon, followed by an independent evaluation by a neurologist within 1-2 days to test inter-rater reliability. The same clinician assessed the same group of children using the adapted mJOA scale at different point in time (between 1 month and 1 year after the initial assessment) to test intra-rater reliability. For known-groups validity, the pediatric mJOA scale assessments were compared between two groups of pathologies with different prognosis. Concurrent validity was assessed against the McCormick scale, and convergent validity was tested by reassessing patients using the adult mJOA scale two or more years after the initial assessment by pediatric one. RESULTS: A cohort of 169 pediatric patients aged 6 months to 18 years (mean age: 10 ± 4.6 years) with various cervical spine pathologies was recruited. Pathologies included atlanto-axial rotatory fixation (AARF), Chiari type I anomaly, congenital cervical spine scoliosis, atlanto-axial dislocation (AAD) and instability (AAI), cervical spine stenosis and trauma, and congenital cervicothoracic dislocations. The majority of patients underwent cervical spine surgery and were followed up for an average of 6.9 ± 2.97 years. The pediatric mJOA scale demonstrated high inter-rater reliability (r = 0.99, p < 0.0001) and strong intra-rater reliability (r = 0.82, p < 0.0001). Significant differences in pediatric mJOA scores were observed between patients with expected-intact neurological status and those with expected-pathological neurological status (p < 0.0001). The pediatric mJOA scale showed a strong correlation with the McCormick grading system (r = 0.97, p < 0.001) and good correlation with the adult mJOA scale during long-term follow-up (r = 0.82, p < 0.0001). CONCLUSIONS: The pediatric version of the mJOA scale is a reliable and valid tool for assessing pediatric patients with cervical spine disorders. Its high reliability and validity support its use in both clinical practice and research.

Segmental Spinal Aplasia: Anatomical Variations and Treatment Insights.

STUDY DESIGN: Retrospective Cohort Study. OBJECTIVE: The study aimed to analyze anatomical variants of segmental spinal aplasia (SSA) and investigate factors influencing surgical treatment outcomes, with a specific focus on the incidence of complications. METHODS: The study focused on patients with SSA treated at a single medical center, with over two years of follow-up. Neurological function changes were evaluated using the modified Japanese Orthopedic Scale (mJOA). Functional independence was measured using the Functional Independence Measure (FIM/WeeFIM) scale, and complications, well-being, and reoperation instances were documented. Statistical analyses used ANOVA and Kruskal-Wallis test. RESULTS: The predominant localization of SSA in 36 own cases occurs near or at the level of the thoracolumbar junction, often accompanied by significant spinal cord narrowing and a low position of the conus medullaris. Additionally, it frequently presents with aplasia of the lower ribs. Cervicothoracic SSA was more commonly associated with segmentation disorders (P = .04). The most common early complications were wound problems (17%) and neurological deterioration (17%); the most common late complications were: non-fusion (34%); 38% of patients required one or more revision surgery. The type, age of surgery, level of surgery, and initial neurological deficient did not significantly influence the incidence of complications or neurological and functional outcomes. CONCLUSION: SSA, a range of anomalies appearing early in childhood, progresses gradually. Surgery involves vertebrectomy followed by interbody fusion and screw fixation, guided by neurophysiological monitoring. Surgery is recommended for worsening neurological symptoms, but conservative options like bracing can be considered, due to a high risk of complications.

Selection variability for Arg48His in alcohol dehydrogenase ADH1B among Asian populations.

The variant His at codon 48 of the alcohol dehydrogenase gene (ADH1B) results in more efficient ethanol metabolism than with the "typical" codon 48Arg. In this study we introduced selection properties of Arg48His genotypes of ADH1B and estimated fitness in four ethnic-geographical clusters in Asia. Population genetics models were employed that derive observed gene frequencies from fitness relationships among genotypes, to infer the selection pattern of polymorphisms in an indirect manner. The data were analyzed using the model of "complete stationary distribution" by Wright that takes into account random genetic drift, pressure of migrations, mutations, and selection as influential factors of gene frequency. We found that the different population groups showed some variation in the types of selection for Arg48His. Han Chinese from eastern and southeastern China and the Japanese and Korean populations showed stabilizing selection, while the groups from Central Asian and Indochina showed divergent selection. However, all the groups demonstrated a strong positive selection for Arg48His.

Cervicothoracic dislocation due to congenital and bone-dysplasia-related vertebral malformations.

PURPOSE: To evaluate the approaches to treatment of congenital and bone-dysplasia-related pediatric cervicothoracic dislocations and define the optimal treatment method. METHODS: The publications available in PubMed and Google Scholar data bases were selected following such criteria as the disease in question, pediatric age, the treatment description, and follow-up results. The paper also includes the descriptions of our own six cases of the cervicothoracic dislocations detected in children with different vertebral malformations. RESULTS: Only eight patients meeting the abovementioned selection criteria were found in the publications: three of them had the Klippel-Feil syndrome (KFS), two had one-level vertebral anomaly, one had neurofibromatosis (NF type 1), one had the Larsen syndrome, and one had a variation of VACTERL association. Their treatment was long term, multi stage, and complicated. Among six our own cases, four patients also had KFS, one had a variation of VACTERL association, and one had NF type 1. All the patients suffered from preoperative neurological disorders. Posterior instrumental fixation with posterior vertebral body resection was performed in four cases and one patient underwent a combined surgery. The parents of one of the patients refused the operation, so he was observed while receiving bracing treatment. Since the treatment was long term and complicated by reoperations, the average follow-up period comprised 5 years. CONCLUSION: Congenital cervicothoracic dislocations are an extremely rare pathology that manifests itself in early age and requires an early surgical treatment. Failure to provide the treatment leads to the patient's disability. The surgical tactics for such patients is determined individually, but the published data and our own experience demonstrate that early multi-stage combined treatment has been the best option available so far. The cervicothoracic dislocations due to NF 1 manifest later and have a more favorable forecast.

Russian ethnic history inferred from mitochondrial DNA diversity.

With the aim of gaining insight into the genetic history of the Russians, we have studied mitochondrial DNA diversity among a number of modern Russian populations. Polymorphisms in mtDNA markers (HVS-I and restriction sites of the coding region) of populations from 14 regions within present-day European Russia were investigated. Based on analysis of the mitochondrial gene pool geographic structure, we have identified three different elements in it and a vast "intermediate" zone between them. The analysis of the genetic distances from these elements to the European ethnic groups revealed the main causes of the Russian mitochondrial gene pool differentiation. The investigation of this pattern in historic perspective showed that the structure of the mitochondrial gene pool of the present-day Russians largely conforms to the tribal structure of the medieval Slavs who laid the foundation of modern Russians. Our results indicate that the formation of the genetic diversity currently observed among Russians can be traced to the second half of the first millennium A.D., the time of the colonization of the East European Plain by the Slavic tribes. Patterns of diversity are explained by both the impact of the native population of the East European Plain and by genetic differences among the early Slavs.

Llif in the correction of degenerative scoliosis in elderly patients / Llif na correção da escoliose degenerativa em pacientes idosos / Llif en la corrección de la escoliosis degenerativa en pacientes de la tercera edad

ABSTRACT Objective The incidence of adult degenerative scoliosis (ADS) among individuals over 50 years old can be as high as 68%. Surgical interventions aimed at correcting the spinal deformity in elderly patients are accompanied by a high risk of complications. The use of lateral lumbar interbody fusion (LLIF) is associated with lower rates of complications when compared with open anterior or posterior fusions. Methods Ninety-three patients with ADS (23 men, 70 women) were operated at the Federal Neurosurgical Center. The average age was 63 (52 to 73 years). Results Back pain, measured according to the Visual Analogue Scale (VAS), decreased from 5.9/6 (4;8) (format - mean/median (1;3 quartile)) to 2.6/3 (1;3) points (p <0.0001). Leg pain according to the VAS decreased from 4.6/4 (3;7) to 1.4/1 (0;2) points (p < 0.0001). Functional adaptation according to the Oswestry Disability Index (ODI) improved from 47.8±17.4 to 38.5±14.5 (p < 0.0273). Pelvic tilt (PT) before the surgery was 23.9±12.2° whereas at 12 months follow-up it was 16.8±5.9° (p < 0.0001). PI-LL mismatch pre surgery was 12.1/13 (9;16)° whereas 12 months later it was 7.9/8 (6;10)° (p = 0.0002). Conclusions Restoration of local sagittal balance in ADS patients by short-segment fixation using LLIF technology leads to a statistically significant improvement in quality of life and increased functional adaptation. A lower incidence of early and late postoperative complications, less intraoperative blood loss and shorter hospital stay makes LLIF, in combination with minimally invasive transpedicular fixation, the method of choice to correct ADS in elderly patients. Level of evidence IV; Case series.

RESUMO Objetivo A incidência de escoliose degenerativa do adulto (EDA) entre indivíduos acima de 50 anos, pode chegar a 68%. As intervenções cirúrgicas destinadas a corrigir a deformidade da coluna vertebral em pacientes idosos são acompanhadas por um alto risco de complicações. A fusão intersomática lombar por via lateral (LLIF) está associado a uma taxa menor de complicações em comparação com as fusões anteriores ou posteriores abertas. Métodos Noventa e três pacientes com EDA (23 homens, 70 mulheres) foram operados no Centro Federal de Neurocirurgia. A média de idade foi de 63 anos (52 a 73 anos). Resultados A dor nas costas, de acordo com a escala visual analógica (EVA) diminuiu de 5,9/6 (4; 8 quartis) (formato média/mediana [1; 3 quartis]) para 2,6/3 (1; 3 quartis) (p < 0,0001). A dor nas pernas, também de acordo com a EVA, diminuiu de 4,6/4 (3; 7 quartis) para 1,4/1 (0; 2 quartis) (p < 0,0001). A adaptação funcional, de acordo com o Índice de Incapacidade de Oswestry (ODI) melhorou de 47,8 ± 17,4 para 38,5 ± 14,5 (p < 0,0273). A inclinação pélvica (PT) antes da cirurgia era de 23,9 ± 12,2°, enquanto nos 12 meses de acompanhamento era de 16,8 ± 5,9 (p < 0,0001). A incompatibilidade pré-cirúrgica de IP-LL foi de 12,1/13 (9; 16), enquanto 12 meses depois foi de -7,9/8 (6; 10) (p = 0,0002). Conclusões A restauração do equilíbrio sagital local em pacientes com EDA por fixação de segmento curto, usando a tecnologia LLIF, proporciona melhora estatisticamente significativa na qualidade de vida e aumenta a adaptação funcional. A menor incidência de complicações pós-operatórias precoces e tardias, a menor perda sanguínea intraoperatória e menor tempo de internação possibilitam que a LLIF, em combinação com a fixação transpedicular minimamente invasiva, seja o método de escolha para corrigir a EDA em pacientes idosos. Nível de evidência IV; Série de casos.

RESUMEN Objetivo La incidencia de escoliosis degenerativa del adulto (EDA) entre individuos con más de 50 años puede llegar a 68%. Las intervenciones quirúrgicas destinadas a corregir la deformidad de la columna vertebral en pacientes del grupo de la tercera edad son acompañadas por un alto riesgo de complicaciones. La fusión intersomática lumbar por vía lateral (LLIF) está asociada a una tasa menor de complicaciones en comparación con las fusiones anteriores o posteriores abiertas. Métodos Noventa y tres pacientes con EDA (23 hombres, 70 mujeres) fueron operados en el Centro Federal de Neurocirugía. El promedio de edad fue de 63 años (52 a 73 años). Resultados El dolor de espalda, de acuerdo con la escala visual analógica (EVA) disminuyó de 5,9/6 (4; 8 cuartiles) (formato promedio/mediana [1; 3 cuartiles) para 2,6/3 (1; 3 cuartiles) (p <0,0001). El dolor en las piernas, también de acuerdo con EVA, disminuyó de 4,6/4 (3; 7 cuartiles) para 1,4/1 (0; 2 cuartiles) (p <0,0001). La adaptación funcional, de acuerdo con el Índice de Incapacidad de Oswestry (ODI) mejoró de 47,8 ± 17,4 para 38,5 ± 14,5 (p <0,0273). La inclinación pélvica (PT) antes de la cirugía era de 23,9 ± 12,2°, mientras que en los 12 meses de acompañamiento fue de 16,8 ± 5,9 (p <0,0001). La incompatibilidad prequirúrgica de IP-LL fue de 12,1/13 (9; 16), mientras que 12 meses después fue de -7,9/8 (6; 10) (p = 0,0002). Conclusiones La restauración del equilibrio sagital local en pacientes con EDA por fijación de segmento corto, usando la tecnología LLIF, proporciona mejora estadísticamente significativa en la calidad de vida y aumenta la adaptación funcional. La menor incidencia de complicaciones postoperatorias precoces y tardías, la menor pérdida sanguínea intraoperatoria y un menor tiempo de internación posibilitan que la LLIF, en combinación con la fijación transpedicular mínimamente invasiva, sea el método de elección para corregir la EDA en pacientes de la tercera edad. Nivel de evidencia IV; Series de casos.