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1.
Clin Pract ; 14(2): 602-613, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38666805

RESUMO

BACKGROUND: The use of postoperative MRI to assess the healing status of repaired menisci is a long-standing issue. This study evaluates and compares functional and MRI outcomes following an arthroscopic meniscus repair procedure with the aim of postoperative MRI diagnostic accuracy clarification in young patients. METHODS: A total of 35 patients under 18 years old who underwent isolated meniscus repair were included. The Pedi-IKDC score, Lysholm score, and Tegner activity index (TAS) were compared between the groups formed according to the Stroller and Crues three-grade classification of postoperative MRI-based evaluations. Grade 3 MRI views were classified as unhealed, grade 2 as partially healed, and grade 1 as fully healed within the repaired meniscus, whereas grade 3 cases were considered unsuccessful due to MRI evaluation. RESULTS: MRI assessment revealed 4 cases of grade 1 (11.4%), 14 cases of grade 2 (40.8%), and 17 cases of grade 3 (48.0%) lesions. Pedi-IKDC and TAS scores were significantly higher among MRI grade 2 patients than among MRI grade 3 patients (p < 0.05). Weak negative correlations between MRI grades and all functional scales were found (p < 0.05). ROC analysis showed that Pedi-IKDC and TAS scores could correctly classify 77% and 71% of MRI grade 3 patients, respectively. The optimal cut-off values to detect grade 3 patients were 88.74 for the Pedi-IKDC score and 4.5 for the TAS score. CONCLUSIONS: To conclude, established functional score cut-off values may help identify unhealed meniscus repair patients.

2.
Children (Basel) ; 10(12)2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38136132

RESUMO

INTRODUCTION: The selection of an appropriate PROM is a crucial aspect in assessing outcomes. Questionnaires that have not been designed or validated for a paediatric population are routinely used. Using a questionnaire requires translation, cultural adaptation, and testing the psychometric properties of the translated questionnaire. There is no applicable questionnaire in our country for children with knee-specific conditions in sports orthopaedics. Therefore, this study aims to translate, culturally adapt, and assess the psychometric properties of the Paediatric IKDC (Pedi-IKDC) questionnaire within the Lithuanian paediatric population. METHODS: The translation was conducted in accordance with international standards. Patients aged 11-17 years with various knee disorders participated in three surveys and completed the Pedi-IKDC, Lysholm, and PedsQL questionnaires. Interviews with patients following the translation process, in addition to floor and ceiling effects, were used to assess content validity. Cronbach alpha (α) statistics and the intraclass correlation coefficient (ICC) were applied to measure internal consistency and reproducibility, respectively. The standard error of measurement (SEM) and smallest detectable change (SDC) were calculated to assess reliability. Pearson correlations were calculated between Pedi-IKDC and Lysholm PedsQL scores to determine criteria validity. The effect size (ES) and standardised response mean (SRM) were calculated to assess the responsiveness to change. RESULTS: Cronbach's alpha (α) was 0.91 for the total score, 0.75 for symptoms, and 0.92 for the sport/function component. The ICC for overall scores was 0.98, with each question ranging from 0.87 to 0.98. The SEM was 2.97, and the SDC was 8.23. Lysholm and PedsQL physical functioning domain scores had moderate correlations (0.8 > r > 0.5), and the overall PedsQL score had a weak correlation (0.5 > r > 0.2) to the Pedi-IKDC score. The floor and ceiling effects were 3.3% and 1.6%, respectively. The SRM was 1.72 and the ES was 1.98. CONCLUSIONS: The Lithuanian Pedi-IKDC version is an appropriate evaluation instrument for assessing outcomes in children with knee disorders. All of the psychometric features produced acceptable results.

3.
J Child Neurol ; 29(3): 399-405, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23340083

RESUMO

Developmental delay and brain anomalies leading to significant morbidity and mortality are frequently caused by chromosomal rearrangements. We report on a familial unbalanced translocation resulting in distal monosomy 5p15.3-pter with trisomy 12q24.2-qter in 2 half siblings with cerebral dysgenesis, severe intellectual disability, dysmorphic features, progressive weakness, and atrophy of muscles.


Assuntos
Cromossomos Humanos Par 12 , Cromossomos Humanos Par 5 , Deficiências do Desenvolvimento/genética , Face/anormalidades , Monossomia , Trissomia , Encéfalo/patologia , Pré-Escolar , Hibridização Genômica Comparativa , Análise Citogenética , Deficiências do Desenvolvimento/patologia , Família , Feminino , Humanos , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Adulto Jovem
4.
Virchows Arch ; 461(3): 339-43, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22886438

RESUMO

Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.


Assuntos
Proteínas de Fusão Oncogênica/genética , Sarcoma de Células Claras/genética , Neoplasias de Tecidos Moles/genética , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias Ósseas/secundário , Éxons/genética , Evolução Fatal , Hallux , Humanos , Metástase Linfática , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sarcoma de Células Claras/tratamento farmacológico , Sarcoma de Células Claras/secundário , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/patologia , Translocação Genética
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