Higher Meniscal Slope Is a Risk Factor for Anterior Cruciate Ligament Injury in Skeletally Immature Patients.

PURPOSE: To evaluate the relation between the femoral intercondylar index, tibial slope, and meniscal slope between 3 different groups of skeletally immature patients: primary anterior cruciate ligament (ACL) injury (group 1), ACL reconstruction failure (group 2), and control group, without an ACL injury history (group 3). METHODS: This retrospective study evaluated magnetic resonance imaging scans of the knees of 605 skeletally immature patients obtained between 2015 and 2020. The inclusion criteria were as follows: patients younger than 16 years who were skeletally immature and underwent knee magnetic resonance imaging for any reason. RESULTS: A total of 605 skeletally immature patients were included in the study. The ratio of patients with ACL injury (cases) to those without ACL injury (controls) was 1:2.5. Patients with ACL injury had significantly greater medial meniscal slope and lateral meniscal slope values than the control group without ACL injury (P < .001). There was no statistically significant difference between patients with primary ACL injury and those with ACL reconstruction failure for all measured variables. CONCLUSIONS: The medial and lateral meniscal slope values were significantly higher in skeletally immature patients with ACL injury than in the control group of patients without ACL injury. There was no statistically significant difference in measurements of the femoral intercondylar index, lateral meniscal slope, medial meniscal slope, lateral tibial slope, or medial tibial slope between patients with primary injury and those with ACL reconstruction failure. LEVEL OF EVIDENCE: Level III, retrospective comparative trial.

Genetic architecture of skin and eye color in an African-European admixed population.

Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3 × 10(-62), SLC24A5 P = 9.6 × 10(-9)) that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4 × 10(-27), TYR P = 1.1 × 10(-9), APBA2[OCA2] P = 1.5 × 10(-8), SLC45A2 P = 6 × 10(-9)) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (~44%) is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ~70% of the estimated heritability.

Tumor necrosis factor inhibitors prevent structural damage in hips in ankylosing spondylitis-time to reconsider treatment guidelines? A case series and review of literature.

Tumor necrosis factor inhibitors (TNFi) are indicated to treat ankylosing spondylitis (AS), also termed radiographic axial spondyloarthritis (axSpA). The main indication for TNFi is symptom relief, and whether they retard spinal structural damage as assessed by radiography is debated. Hips are the most common "non-spinal" joints involved in AS patients leading to major incapacitation. No major treatment guidelines mention measures to prevent peripheral joint damage, especially hips, in individuals with AS. We present our experience of prevention of structural damage in hips by TNFi in 4 AS patients from our practice. We conducted a literature review looking for articles describing prevention of structural damage progression in hips by TNFi. Over a 10-year period, three out of four patients were treated with TNFi and had no progression in hip damage as assessed by imaging. Only one patient that withdrew the TNFi due to infectious complications developed rapid worsening and required hip arthroplasty. Our literature review showed multiple case series with similar results suggesting that use of TNFi in patients with AS may prevent structural damage and at least postpone a hip replacement at a young age. Based on our experience, as well as from the literature review, we believe that treatment guidelines in axSpA should recommend prompt institution of TNFi following identification of hip involvement in patients to prevent a major source of disability. Whether interleukin (IL)-17 inhibitors or targeted synthetic anti-rheumatic drugs have hip sparing effects in patients with AS should also be investigated. Key Points • Hip involvement in ankylosing spondylitis is a major source of disability. • TNFi prevent hip damage in ankylosing spondylitis. • Prompt institution of TNFi should follow suspicion of hip involvement in ankylosing spondylitis.

Prevalence of sacroiliitis and acute and structural changes on MRI in patients with psoriatic arthritis.

Sacroiliac joint involvement is one of the earliest manifestations of psoriatic arthritis (PsA). Magnetic resonance imaging (MRI) is a useful tool in the early diagnosis of axial disease due to its sensitivity for detecting acute and chronic changes associated with sacroiliitis. In this study, we evaluated the prevalence of sacroiliitis, acute and structural image changes on MRI in PsA patients and identified predictive clinical, laboratory and disease activity factors. Cross-sectional study on PsA patients submitted to MRI of the sacroiliac joints. The scans were evaluated by two blinded radiologists and the level of agreement was calculated (kappa). Clinical, disease activity and quality-of-life indices (DAS28, BASDAI, PASI, MASES, HAQ, CRP, ESR) were estimated. The sample consisted of 45 PsA patients with a mean age of 50.1 ± 11.5 years. The prevalence of sacroiliitis was 37.8% (n = 17), 47% of which was unilateral. The kappa coefficient was 0.64. Only 5 (29.4%) of the 17 patients with sacroiliitis on MRI had back pain. The most prevalent acute and chronic changes on MRI were, respectively, subchondral bone edema (26.7%) and enthesitis (20%), periarticular erosions (26.7%) and fat metaplasia (13.3%). CRP levels were higher among sacroiliitis patients (p = 0.028), and time of psoriasis was positively associated with chronic lesions (p = 0.006). Sacroiliitis on MRI was highly prevalent in our sample of PsA patients. Raised CRP levels were significantly associated with sacroiliitis, and longer time of psoriasis was predictive of chronic sacroiliitis lesions. Most sacroiliitis patients displayed no clinical symptoms.

PRE-PLANNING ANKLE ARTHRODESIS USING 3D RECONSTRUCTED TOMOGRAPHIES.

OBJECTIVE: To implement one analysis method of the ankle bone contour that could make a more precise ankle arthrodesis. METHODS: Twenty tomographies were submitted to 3D reconstruction. Seven points of anatomic interest for ankle arthrodesis with the three screws technique were marked with a triplannar marker. The median of the position of markers was estimated, and the union of the seven median points allow the construction of one median ankle for that population. Using this median ankle, sizes and angles for the screws position were determined. RESULTS: Two median ankles were reconstructed, left and right. The position of the screw passage were determined considering the anatomical parameters. In the right ankle the lateral to medial screw should enter 4.56 cm and 0.79 above and posterior to lateral malleolus, with one inclination of 17.34° in relation to tibial longitudinal axis; and 0° in relation to tibial axial plane. The position for the other two screws is also described. CONCLUSION: Our article is the first to presents one precise guide for ankle arthrodesis based on a populational assessment. Level of evidence II, Diagnostic Studies.

OBJETIVO: Implementar método de análise do contorno e alinhamento ósseos no tornozelo de uma população normal, possibilitando uma artrodese tibiotársica mais precisa. MÉTODOS: Tomografias de vinte tornozelos foram submetidas à reconstrução 3D. Nesses exames, 7 pontos anatômicos de interesse para a técnica de fixação com 3 parafusos foram identificados e marcados com indicadores da posição triplanar. As médias das localizações de cada ponto foram calculadas. A união dessas médias permitiu a reconstrução de um tornozelo padrão daquela população. Nesses tornozelos médios estudou-se os comprimentos e ângulos para a passagem dos parafusos. RESULTADOS: Dois tornozelos, direito e esquerdo, foram reconstruídos. A posição para a passagem dos parafusos em relação a parâmetros anatômicos foi determinada. Para o tornozelo direito, a passagem do parafuso de lateral para medial deve ocorrer com o ponto de entrada 4,56 cm acima e 0,79 cm posterior à ponta do maléolo lateral, com inclinação de 17,34° em relação ao eixo longitudinal e 0° em relação ao eixo axial da tíbia. As posições dos outros dois parafusos também estão descritas. CONCLUSÃO: Esse é o primeiro trabalho que apresenta um guia preciso para realização da artrodese do tornozelo, baseado em um estudo populacional. Nível de evidência II, Estudos Diagnósticos.

Neurothekeoma in the Axilla Causing Persistent Shoulder Pain: Case Report.

Neurothekeomas, also known as neural sheath myxomas, are rare benign tumors of the neural sheath affecting most commonly the head, arms and shoulder of women in their 2 nd and 3 rd decades of life. Due to the low prevalence and undefined clinical picture, they are hardly considered in the initial differential diagnosis of skin tumors. We report the case of a 24 year-old woman who was seen in 2016 reporting > 1 year of moderate pain and limited mobility of her left shoulder. Clinical evaluation revealed restricted mobility of the affected shoulder and nuclear magnetic resonance imaging showed a T2-weighted contrast-enhanced multilobular mass in the quadrilateral area apparently invading the adjacent humeral cortical region. Histopathology of a needle sample material revealed loose fibroconnective tissue with no signs of invasion, mitosis or atypical figures. Successful surgical excision was performed and the diagnosis of neurothekeoma was confirmed after detailed histopathology, including immunohistochemistry. The patient was asymptomatic at 18 months of follow-up, with full recovery of shoulder movement and no signs of relapse.

Neurothekeoma in the Axilla Causing Persistent Shoulder Pain: Case Report / Neurotecoma na axila causando dor persistente no ombro: Relato de caso

Abstract Neurothekeomas, also known as neural sheath myxomas, are rare benign tumors of the neural sheath affecting most commonly the head, arms and shoulder of women in their 2nd and 3rd decades of life. Due to the low prevalence and undefined clinical picture, they are hardly considered in the initial differential diagnosis of skin tumors. We report the case of a 24 year-old woman who was seen in 2016 reporting > 1 year of moderate pain and limited mobility of her left shoulder. Clinical evaluation revealed restricted mobility of the affected shoulder and nuclear magnetic resonance imaging showed a T2-weighted contrast-enhanced multilobular mass in the quadrilateral area apparently invading the adjacent humeral cortical region. Histopathology of a needle sample material revealed loose fibroconnective tissue with no signs of invasion, mitosis or atypical figures. Successful surgical excision was performed and the diagnosis of neurothekeoma was confirmed after detailed histopathology, including immunohistochemistry. The patient was asymptomatic at 18 months of follow-up, with full recovery of shoulder movement and no signs of relapse.

Resumo Neurotecomas, também conhecidos como mixomas da bainha neural, são tumores benignos raros da bainha neural afetando mais comumente a cabeça, braços e ombros de mulheres entre 20 e 40 anos de idade. Devido à baixa prevalência e quadro clínico mal definido, essas lesões são raramente consideradas no diagnóstico diferencial de tumores cutâneos. Relatamos o caso de uma mulher de 24 anos de idade que procurou atendimento em 2016 relatando dor moderada por mais de um ano e limitação dos movimentos do ombro esquerdo. Ao exame, foi constatada restrição da mobilidade dessa articulação e uma ressonância magnética revelou imagem multilobular com aumento de sinal em T2 na região quadrilateral, aparentando invasão da região cortical do úmero subjacente. A histopatologia de uma biópsia incisional mostrou lesão composta por tecido conjuntivo frouxo, sem sinais de invasão, figuras de mitose ou atipias. Foi realizada excisão completa da lesão e o diagnóstico de neurotecoma foi confirmado após análise histopatológica que incluiu painel imunohistoquímico. À revisão de 18 meses, a paciente estava assintomática com recuperação completa do movimento e sem evidência de recidiva da lesão.

Pre-planning ankle arthrodesis using 3d reconstructed tomographies / Desenvolvimento da artrodese do tornozelo baseada na tomografia com reconstrução 3d

ABSTRACT Objective: To implement one analysis method of the ankle bone contour that could make a more precise ankle arthrodesis. Methods: Twenty tomographies were submitted to 3D reconstruction. Seven points of anatomic interest for ankle arthrodesis with the three screws technique were marked with a triplannar marker. The median of the position of markers was estimated, and the union of the seven median points allow the construction of one median ankle for that population. Using this median ankle, sizes and angles for the screws position were determined. Results: Two median ankles were reconstructed, left and right. The position of the screw passage were determined considering the anatomical parameters. In the right ankle the lateral to medial screw should enter 4.56 cm and 0.79 above and posterior to lateral malleolus, with one inclination of 17.34° in relation to tibial longitudinal axis; and 0° in relation to tibial axial plane. The position for the other two screws is also described. Conclusion: Our article is the first to presents one precise guide for ankle arthrodesis based on a populational assessment. Level of evidence II, Diagnostic Studies.

RESUMO Objetivo: Implementar método de análise do contorno e alinhamento ósseos no tornozelo de uma população normal, possibilitando uma artrodese tibiotársica mais precisa. Métodos: Tomografias de vinte tornozelos foram submetidas à reconstrução 3D. Nesses exames, 7 pontos anatômicos de interesse para a técnica de fixação com 3 parafusos foram identificados e marcados com indicadores da posição triplanar. As médias das localizações de cada ponto foram calculadas. A união dessas médias permitiu a reconstrução de um tornozelo padrão daquela população. Nesses tornozelos médios estudou-se os comprimentos e ângulos para a passagem dos parafusos. Resultados: Dois tornozelos, direito e esquerdo, foram reconstruídos. A posição para a passagem dos parafusos em relação a parâmetros anatômicos foi determinada. Para o tornozelo direito, a passagem do parafuso de lateral para medial deve ocorrer com o ponto de entrada 4,56 cm acima e 0,79 cm posterior à ponta do maléolo lateral, com inclinação de 17,34° em relação ao eixo longitudinal e 0° em relação ao eixo axial da tíbia. As posições dos outros dois parafusos também estão descritas. Conclusão: Esse é o primeiro trabalho que apresenta um guia preciso para realização da artrodese do tornozelo, baseado em um estudo populacional. Nível de evidência II, Estudos Diagnósticos.

The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.

Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde islands in West Africa are highly admixed and primarily descended from European males and African females. However, little is known about the variation in admixture levels, admixture dynamics and genetic diversity across the islands, or about the potential of Cape Verde for admixture mapping studies. We have performed a detailed analysis of phenotypic and genetic variation in Cape Verde based on objective skin color measurements, socio-economic status (SES) evaluations and data for 50 autosomal, 34 X-chromosome, and 21 non-recombinant Y-chromosome (NRY) markers in 845 individuals from six islands of the archipelago. We find extensive genetic admixture between European and African ancestral populations (mean West African ancestry = 0.57, sd = 0.08), with individual African ancestry proportions varying considerably among the islands. African ancestry proportions calculated with X and Y-chromosome markers confirm that the pattern of admixture has been sex-biased. The high-resolution NRY-STRs reveal additional patterns of variation among the islands that are most consistent with differentiation after admixture. The differences in the autosomal admixture proportions are clearly evident in the skin color distribution across the islands (Pearson r = 0.54, P-value<2e-16). Despite this strong correlation, there are significant interactions between SES and skin color that are independent of the relationship between skin color and genetic ancestry. The observed distributions of admixture, genetic variation and skin color and the relationship of skin color with SES relate to historical and social events taking place during the settlement history of Cape Verde, and have implications for the design of association studies using this population.

Carcinoma verrucoso da mão: uma rara apresentação avaliada por ressonância magnética / Verrucous carcinoma of the hand: a rare presentation evaluated by magnetic resonance imaging

O carcinoma verrucoso é uma variante do carcinoma de células escamosas, vista em mucosas e pele, raramente encontrada na mão. Nós relatamos um caso de duas lesões no dorso da mão, sem contato entre si, que foram ressecadas em bloco e confirmadas como carcinoma verrucoso.

Verrucous carcinoma is a variant of squamous cell carcinoma seen in mucous membranes and skin, and rarely found in the hand. The present report describes a case of two lesions on the dorsum of the hand, with no contact to each other, which underwent en-block resection and were confirmed as verrucous carcinoma.