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1.
Pediatrics ; 153(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38501191

RESUMO

OBJECTIVES: To examine radiologic outcomes at skeletal maturity of sonographically normal, immature, mildly, and severely dysplastic newborn hips. METHODS: During 1988 to 1990, 11 925 newborns were enrolled in a randomized controlled trial examining screening strategies for developmental hip dysplasia. In total, 4469 were invited to clinical and radiologic follow-up 18 years later, of which 1735 had received neonatal ultrasound. Radiographic markers for dysplasia in left adult hips included the center-edge (CE) angle. RESULTS: At follow-up, 984 of 1735 (56.7%) with newborn ultrasound met, of which 966 (614 females) had valid radiographs and were thus included. For females, 34 (10.2%) and 1 (0.3%) of the 332 sonographically normal left neonatal hips were judged borderline (20°≤ CE <25°) or dysplastic (CE <20°) at skeletal maturity respectively. Corresponding numbers were 36 (19.7%) and 3 (1.6%) of the 183 immature, 12 (15.6%) and 2 (2.6%) of the 77 mildly dysplastic, and 3 (13.6%) and 3 (13.6%) of the 22 severely dysplastic neonatal left hips (P ≤ .001). In males, no associations were found. In females, adult joint hypermobility was associated with sonographic neonatal hip instability (P = .046), as well as with adult acetabular dysplasia (P = .024). CONCLUSIONS: Significant associations between neonatal hip phenotypes and adult dysplasia were revealed in females. This indicates the possibility of different mechanisms affecting the course of developmental dysplasia of the hip for females and males, prompting consideration of prolonged clinical and radiologic follow-up for females with dysplastic neonatal hips. Results in males are limited by low numbers of dysplastic hips. The significance of joint hypermobility warrants further investigation.


Assuntos
Luxação Congênita de Quadril , Luxação do Quadril , Instabilidade Articular , Masculino , Feminino , Humanos , Recém-Nascido , Adulto Jovem , Luxação do Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/diagnóstico por imagem , Radiografia , Ultrassonografia , Acetábulo/diagnóstico por imagem , Articulação do Quadril/diagnóstico por imagem , Estudos Retrospectivos
2.
Osteoarthr Cartil Open ; 6(1): 100424, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38283578

RESUMO

Objective: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30 â€‹% of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome. Design: We used the large, ongoing, longitudinal Trøndelag Health Study (HUNT) database. Case definition was based on ICD-9/-10 diagnoses of DDH, or osteoarthritis secondary to DDH. Analyses were performed using SAIGE software, with covariates including sex, batch, birth year and principal components. We included only single nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) ≥ 0.01, R2≥ 0.8 and Hardy-Weinberg equilibrium (HWE) P-value ≥ 0.0001. Significance level was set at p â€‹< â€‹5 â€‹× â€‹10-8. Meta-analysis using data from DDH and primary osteoarthritis genome-wide association studies (GWASs) was done using METAL software. The study was approved by the regional ethical committee. Results: Analysis included 69,500 individuals, of which 408 cases, and 8,531,386 SNPs. Two SNPs near COL11A1 were significantly associated with DDH; rs713162 (ߠ​= â€‹-0.43, SE â€‹= â€‹0.07, p â€‹= â€‹8.4 â€‹× â€‹10-9) and rs6577334 (ߠ​= â€‹-0.43, SE â€‹= â€‹0.08, p â€‹= â€‹8.9 â€‹× â€‹10-9). COL11A1 has previously been associated with acetabular dysplasia and osteoarthritis. Meta-analysis supported previous GWAS findings of both DDH and primary osteoarthritis. Conclusions: This large, genome-wide case-control study indicates an association between COL11A1 and DDH and is an important contribution to investigating the etiology of DDH, with further research needed.

3.
Eur J Radiol ; 166: 110968, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37478654

RESUMO

OBJECTIVE: When performing whole-body MRI for bone marrow assessment in children, optimizing scan time is crucial. The aim was to compare T2 Dixon fat-only and TSE T1-weighted sequences in the assessment of bone marrow high signal areas seen on T2 Dixon water-only in healthy children and adolescents. MATERIALS AND METHODS: Whole-body MRIs from 196 healthy children and adolescents aged 6 to 19 years (mean 12.0) were obtained including T2 TSE Dixon and T1 TSE-weighted images. Areas with increased signal on T2 Dixon water-only images were scored using a novel, validated scoring system and classified into "minor" or "major" findings according to size and intensity, where "major" referred to changes easily being misdiagnosed as pathology in a clinical setting. Areas were assessed for low signal on T2 Dixon fat-only images and, after at least three weeks to avoid recall bias, on the T1-weighted sequence by two experienced pediatric radiologists. RESULTS: 1250 high signal areas were evaluated on T2 Dixon water-only images. In 1159/1250 (92.7%) low signal was seen on both T2 Dixon fat-only and T1-weighted sequences while in 24 (1.9%) it was not present on either sequence, with an absolute agreement of 94.6%. Discordant findings were found in 67 areas, of which in 18 (1.5%) low signal was visible on T1-weighted images alone and in 49 (3.9%) on T2 Dixon fat-only alone. The overall kappa value between the two sequences was 0.39. The agreement was higher for major as compared to minor findings (kappa values of 0.69 and 0.29, respectively) and higher for the older age groups. CONCLUSION: T2 Dixon fat-only can replace T1-weighted sequence on whole-body MRI for bone marrow assessment in children over the age of nine, thus reducing scan time.


Assuntos
Medula Óssea , Imageamento por Ressonância Magnética , Humanos , Adolescente , Criança , Idoso , Medula Óssea/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Imagem Corporal Total
4.
Tidsskr Nor Laegeforen ; 143(6)2023 04 25.
Artigo em Norueguês | MEDLINE | ID: mdl-37097239

RESUMO

BACKGROUND: Hip dysplasia occurs in up to 3 % of neonates and if untreated can lead to dislocated hip, osteoarthritis and the need for a hip prosthesis. The study aimed to identify routines for ultrasound screening, treatment and follow-up of hip dysplasia in Norwegian hospitals. MATERIAL AND METHOD: An online questionnaire was sent to radiologists responsible for paediatric examinations at all hospitals with paediatric departments. INTERPRETATION: Routines for screening, treatment and follow-up of hip dysplasia varied to a considerable degree between the hospitals.


Assuntos
Artroplastia de Quadril , Luxação Congênita de Quadril , Luxação do Quadril , Recém-Nascido , Lactente , Humanos , Criança , Luxação do Quadril/diagnóstico por imagem , Luxação do Quadril/etiologia , Luxação do Quadril/cirurgia , Seguimentos , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/terapia , Programas de Rastreamento , Ultrassonografia
5.
Pediatr Radiol ; 53(10): 1977-1988, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37099154

RESUMO

Different screening strategies for developmental dysplasia of the hip (DDH) exist. Despite screening efforts, cases of late presentation continue to occur, often necessitating surgery. This systematic review and meta-analysis assess the effect of newborn selective ultrasound screening for DDH on the incidence of late presentation in infants and children, compared to a universal ultrasound strategy. A systematic search across Medline and EMBASE databases was performed between January 1950 and February 2021. A consensus-based evaluation of abstracts led to retrieval of relevant full text, original articles or systematic reviews in English only. These were assessed according to agreed eligibility criteria, and their reference lists were reviewed to identify additional eligible publications. Following final consensus on included publications, data was extracted, analysed and reported as per PRISMA and Prospero (CRD42021241957) guidelines. The 16 eligible studies consisted of 2 randomised controlled trials and 14 cohort studies, published between 1989 and 2014, with a total of 511,403 participants. In total, 121,470 (23.8%) received a neonatal hip ultrasound, of whom 58,086 and 63,384 were part of a selective or a universal ultrasound screening strategy, respectively. The difference in the proportion of late presentation between the universal and selective strategies was 0.0904 per 1,000 (P = 0.047). The time effect, i.e. the difference between early and late presentation defined respectively, as less than and more than 3 months of age, regardless of screening strategy, was not significant (P = 0.272). Although there was variability in study design and reporting, the quality of the evidence, based on the critical appraisal skills programme appraisal tools, was generally good. Compared to universal ultrasound screening for DDH, selective screening resulted in a slightly higher rate of late presentation. Uniformity in design and reporting of DDH studies and a cost-effectiveness analysis are needed.


Assuntos
Displasia do Desenvolvimento do Quadril , Luxação Congênita de Quadril , Recém-Nascido , Lactente , Criança , Humanos , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/epidemiologia , Incidência , Triagem Neonatal/métodos , Ultrassonografia
6.
BMC Musculoskelet Disord ; 24(1): 119, 2023 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-36774465

RESUMO

ABSTRAC: BACKGROUND AND OBJECTIVES: Acetabular dysplasia in young adults occurs, despite screening for developmental hip dysplasia (DDH) in the neonatal period. We aimed to examine how early life factors predict radiographic measurements of acetabular dysplasia at 18-19 years of age. METHODS: From a previous randomized trial (n = 12,014; 1988-90) evaluating the role of hip ultrasound in newborn screening of DDH, 4469 participants (2193 males) were invited to a follow-up 18 years later (2007-09), of which 2370 (53% attendance; 932 males) met. We examined associations between early life factors and four radiographic measurements for acetabular dysplasia at skeletal maturity. Hierarchical regressions, with addition of variables observed/measured consecutively in time, were analyzed using mixed effects models considering hip as the unit in the analyses. The study is approved by the Regional Ethics Committee. RESULTS: In total, 2340 participants (921 boys), mean age 18.7 years, (SD 0.6) had hip radiographs performed at follow-up and were included. Early life factors significantly predicting radiographic acetabular dysplasia at age 18-19-years included female gender, breech, low acetabular inclination (alpha) angle and sonographic instability, abduction treatment, as well as the velocity of growth during childhood. A positive family history of DDH was not associated with acetabular dysplasia at skeletal maturity. CONCLUSION: The acetabular inclination (alpha) angle as measured on ultrasound at birth turned out to be a significant predictor of dysplasia at 18-19 years of age. The discordant role of a positive family history in early versus adult hip dysplasia is intriguing, warranting further studies on the genetic mechanisms of DDH.


Assuntos
Luxação Congênita de Quadril , Luxação do Quadril , Masculino , Recém-Nascido , Humanos , Feminino , Adulto Jovem , Adolescente , Adulto , Luxação do Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/diagnóstico , Estudos Retrospectivos , Acetábulo , Radiografia
7.
Eur J Radiol ; 154: 110425, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35843014

RESUMO

OBJECTIVE: To describe the findings of focal high signal on T2 weighted (T2W) images of the bone marrow in the axial skeleton as assessed by whole-body MRI in healthy and asymptomatic children and adolescents. MATERIAL AND METHODS: We assessed the bone marrow of the mandible, shoulder girdle, thorax, spine, and pelvis on water-only Dixon T2W sequences as part of a whole-body MRI protocol in 196 healthy and asymptomatic children aged 5-19 years. Intensity (0-2 scale) and extension (1-4 scale) of focal high signal areas in the bone marrow were scored and divided into minor or major findings, based on intensity and extension to identify the potentially conspicuous lesions in a clinical setting. RESULTS: We registered 415 areas of increased signal in the axial skeleton whereof 75 (38.3%) were major findings. Fifty-eight (29.6%) individuals had at least one major finding, mainly located in the pelvis (54, 72%). We found no differences according to gender. The number of minor findings increased with age (p = 0.020), but there were no significant differences in the number of major findings. The most conspicuous findings were in the pelvis, spine and sternum. CONCLUSION: Non-specific bone marrow T2W hyperintensities in the axial skeleton are frequently detected on whole-body MRI in healthy, asymptomatic children. Awareness of this is important as some findings may resemble clinically silent lesions in children with suspected multifocal skeletal disease.


Assuntos
Imageamento por Ressonância Magnética , Imagem Corporal Total , Adolescente , Medula Óssea/diagnóstico por imagem , Osso e Ossos , Criança , Humanos , Imageamento por Ressonância Magnética/métodos , Tórax
8.
Eur J Radiol ; 153: 110365, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35617871

RESUMO

OBJECTIVE: To describe the appearances of bone marrow in the appendicular skeleton on fat-suppressed T2-weighted sequences as assessed by whole-body MRI in healthy and asymptomatic children and adolescents. MATERIAL AND METHODS: Following ethical approval, we assessed the bone marrow of the extremities on water-only Dixon T2-weighted images as part of a whole-body MRI in 196 healthy and asymptomatic children aged 5-19 years. Based on a newly devised and validated scoring system, we graded intensity (0-2 scale) and extension (1-4 scale) of focal high signal bone marrow areas, and divided them into minor or major findings, based on intensity and extension, reflecting their potential conspicuousness in a clinical setting. RESULTS: In the upper extremity, we registered 366 areas with increased signal whereof 79 were major findings. In the lower extremities there were 675 areas of increased signal of which 340 were major findings. Hundred-and-fifteen (58.79%) individuals had at least one major finding, mainly located in the hand and proximal humerus, and the feet and knees. We found no differences according to gender, reported hours of sports activity, handedness, or age group, except for more minor findings in the upper extremities amongst 15-18-year-olds as compared to those aged 5-8 years. CONCLUSION: Focal areas of high signal intensity on whole-body MRI, T2-weighted fat suppressed images that, in a clinical setting could cause concern, were seen in more than half of healthy, asymptomatic children and adolescents. Awareness of this is important when interpreting whole-body MRI in this age group, particularly in the assessment of clinically silent lesions.


Assuntos
Imageamento por Ressonância Magnética , Imagem Corporal Total , Adolescente , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Criança , , Humanos , Úmero , Imageamento por Ressonância Magnética/métodos
9.
Pediatr Radiol ; 52(7): 1272-1282, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35445816

RESUMO

BACKGROUND: Whole-body magnetic resonance imaging (MRI) is increasingly being used in children, however, to date there are no studies addressing the reliability of the findings. OBJECTIVE: To examine intra- and interobserver reliability of a scoring system for assessment of high signal areas within the bone marrow, as visualized on T2-weighted, fat-saturated images. MATERIALS AND METHODS: Ninety-six whole-body MRIs (1.5 T) in 78 healthy volunteers (mean age: 11.5 years) and 18 children with chronic nonbacterial osteomyelitis (mean age: 12.4 years) were included. Coronal water-only Dixon T2-weighted images were used to score the left lower extremity/pelvis for high signal intensity areas, intensity (0-2 scale), extension (0-4 scale) and shape and contour in a blinded fashion by two pairs of radiologists. RESULTS: For the pelvis, grading of bone marrow signal showed moderate to good intra- and interobserver agreement with kappa values of 0.51-0.94 and 0.41-0.87, respectively. Corresponding figures for the femur were 0.61-0.68 within and 0.32-0.61 between observers, and for the tibia 0.60-0.72 and 0.51-0.73. Agreement for assessing extension was moderate to good both within and between observers for the pelvis (k = 0.52-0.85 and 0.35-0.80), for the femur (0.52-0.67 and 0.51-0.60) and for the tibia (k = 0.59-0.69 and 0.47-0.63) except for the femur metaphysis/diaphysis, with interobserver kappa values of 0.29-0.30. Scoring of shape was moderate to good within observers, but in general poorer between observers, with kappa values of 0.40-0.73 and 0.18-0.69, respectively. For contour, the corresponding figures were 0.35-0.62 and 0.09-0.54, respectively. CONCLUSION: MRI grading of intensity and extension of high signal intensity areas within the bone marrow of pelvis and lower limb performs well and thus can be used interchangeably by different observers, while assessment of shape and contour is reliable for the same observer but is less reliable between observers. This should be considered when performing clinical trials.


Assuntos
Medula Óssea , Imageamento por Ressonância Magnética , Medula Óssea/diagnóstico por imagem , Criança , Fêmur , Humanos , Imageamento por Ressonância Magnética/métodos , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Imagem Corporal Total
10.
Pediatr Radiol ; 52(6): 1104-1114, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35107593

RESUMO

BACKGROUND: Manual assessment of bone marrow signal is time-consuming and requires meticulous standardisation to secure adequate precision of findings. OBJECTIVE: We examined the feasibility of using deep learning for automated segmentation of bone marrow signal in children and adolescents. MATERIALS AND METHODS: We selected knee images from 95 whole-body MRI examinations of healthy individuals and of children with chronic non-bacterial osteomyelitis, ages 6-18 years, in a longitudinal prospective multi-centre study cohort. Bone marrow signal on T2-weighted Dixon water-only images was divided into three color-coded intensity-levels: 1 = slightly increased; 2 = mildly increased; 3 = moderately to highly increased, up to fluid-like signal. We trained a convolutional neural network on 85 examinations to perform bone marrow segmentation. Four readers manually segmented a test set of 10 examinations and calculated ground truth using simultaneous truth and performance level estimation (STAPLE). We evaluated model and rater performance through Dice similarity coefficient and in consensus. RESULTS: Consensus score of model performance showed acceptable results for all but one examination. Model performance and reader agreement had highest scores for level-1 signal (median Dice 0.68) and lowest scores for level-3 signal (median Dice 0.40), particularly in examinations where this signal was sparse. CONCLUSION: It is feasible to develop a deep-learning-based model for automated segmentation of bone marrow signal in children and adolescents. Our model performed poorest for the highest signal intensity in examinations where this signal was sparse. Further improvement requires training on larger and more balanced datasets and validation against ground truth, which should be established by radiologists from several institutions in consensus.


Assuntos
Aprendizado Profundo , Adolescente , Medula Óssea/diagnóstico por imagem , Criança , Estudos de Viabilidade , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética , Estudos Prospectivos
11.
Andrology ; 9(3): 837-845, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33544961

RESUMO

BACKGROUND: Previous studies investigating the association between weight status and onset of puberty in boys have been equivocal. It is currently unclear to what extent weight class influences puberty onset and progression. OBJECTIVES: To explore the relationship between degree of sexual maturation and anthropometric measures in Norwegian boys. METHODS: The following endpoints were collected in a Norwegian cross-sectional study of 324 healthy boys aged 9-16: ultrasound-determined testicular volume (USTV), total serum testosterone, Tanner pubic hair stage, height, weight, waist circumference (WC), subscapular skinfolds (SSF), and body fat percentage (%BF). Testicular volume-for-age z-scores were used to classify "early," "average," or "late" maturing boys. Ordinal logistic regression analyses with a proportional odds model were applied to analyze the association between anthropometric variables and age-adjusted degree of pubertal development, with results expressed as age-adjusted odds ratios (AOR). Cumulative incidence curves for reaching pubertal milestones were stratified by BMI. RESULTS: Boys with a low BMI for age (BMIz  < -1) were less likely to have reached a pubertal testicular volume (USTV ≥ 2.7 mL) or a pubertal serum level of testosterone (≥0.5 nmol/L) compared to normal weight boys (AOR 0.3, p = 0.038, AOR 0.3, p = 0.026, respectively), and entered puberty on average with a delay of approximately eight months. Boys with high BMI for age (BMIz  > 1) exhibited a comparable timing as normal weight boys. The same was found for WC. Pubertal markers were not associated with SSF or %BF. CONCLUSION: By examining the association between puberty and weight status classified as low, average, or high, we found that a low BMI or WC for age were associated with a less advanced pubertal development and delayed timing of puberty in boys. No significant association was observed for a high BMI or WC. Moreover, no significant effects of SSF or %BF were observed. A low weight status should also be considered when assessing pubertal development in boys.


Assuntos
Índice de Massa Corporal , Obesidade/fisiopatologia , Puberdade/fisiologia , Maturidade Sexual/fisiologia , Adolescente , Criança , Estudos Transversais , Humanos , Masculino , Testículo/diagnóstico por imagem , Ultrassonografia
12.
Pediatr Radiol ; 51(2): 282-288, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33033917

RESUMO

BACKGROUND: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder. Little information exists on the use of imaging techniques in CNO. MATERIALS AND METHODS: We retrospectively reviewed clinical and MRI findings in children diagnosed with CNO between 2012 and 2018. Criteria for CNO included unifocal or multifocal inflammatory bone lesions, symptom duration >6 weeks and exclusion of infections and malignancy. All children had an MRI (1.5 tesla) performed at the time of diagnosis; 68 of these examinations were whole-body MRIs including coronal short tau inversion recovery sequences, with additional sequences in equivocal cases. RESULTS: We included 75 children (26 boys, or 34.7%), with mean age 10.5 years (range 0-17 years) at diagnosis. Median time from disease onset to diagnosis was 4 months (range 1.5-72.0 months). Fifty-nine of the 75 (78.7%) children presented with pain, with or without swelling or fever, and 17 (22.7%) presented with back pain alone. Inflammatory markers were raised in 46/75 (61.3%) children. Fifty-four of 75 (72%) had a bone biopsy. Whole-body MRI revealed a median number of 6 involved sites (range 1-27). Five children (6.7%) had unifocal disease. The most commonly affected bones were femur in 46 (61.3%) children, tibia in 48 (64.0%), pelvis in 29 (38.7%) and spine in 20 (26.7%). Except for involvement of the fibula and spine, no statistically significant differences were seen according to gender. CONCLUSION: Nearly one-fourth of the children presented with isolated back pain, particularly girls. The most common sites of disease were the femur, tibia and pelvic bones. Increased inflammatory markers seem to predict the number of MRI sites involved.


Assuntos
Doenças Ósseas , Osteomielite , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Osteomielite/diagnóstico por imagem , Estudos Retrospectivos , Coluna Vertebral
13.
Pediatr Radiol ; 51(1): 14-24, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32588094

RESUMO

Whole-body magnetic resonance imaging (MRI) is increasingly being used for a number of indications. Our aim was to review and describe indications and scan protocols for diagnostic value of whole-body MRI for multifocal disease in children and adolescents, we conducted a systematic search in Medline, Embase and Cochrane for all published papers until November 2018. Relevant subject headings and free text words were used for the following concepts: 1) whole-body, 2) magnetic resonance imaging and 3) child and/or adolescent. Included were papers in English with a relevant study design that reported on the use and/or findings from whole-body MRI examinations in children and adolescents. This review includes 54 of 1,609 papers identified from literature searches. Chronic nonbacterial osteomyelitis, lymphoma and metastasis were the most frequent indications for performing a whole-body MRI. The typical protocol included a coronal STIR (short tau inversion recovery) sequence with or without a coronal T1-weighted sequence. Numerous studies lacked sufficient data for calculating images resolution and only a few studies reported the acquired voxel volume, making it impossible for others to reproduce the protocol/images. Only a minority of the included papers assessed reliability tests and none of the studies documented whether the use of whole-body MRI affected mortality and/or morbidity. Our systematic review confirms significant variability of technique and the lack of proven validity of MRI findings. The information could potentially be used to boost attempts towards standardization of technique, reporting and guidelines development.


Assuntos
Neoplasias , Osteomielite , Adolescente , Criança , Humanos , Imageamento por Ressonância Magnética , Reprodutibilidade dos Testes , Imagem Corporal Total
14.
J Clin Endocrinol Metab ; 105(12)2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-32961560

RESUMO

CONTEXT: Application of ultrasound (US) to evaluate attainment and morphology of glandular tissue provides a new rationale for evaluating onset and progression of female puberty, but currently no hormone references complement this method. Furthermore, previous studies have not explored the predictive value of endocrine profiling to determine female puberty onset. OBJECTIVE: To integrate US breast staging with hypothalamic-pituitary-gonadal hormone references and test the predictive value of an endocrine profile to determine thelarche. DESIGN SETTING AND PARTICIPANTS: Cross-sectional sample of 601 healthy Norwegian girls, ages 6 to 16 years. MAIN OUTCOME MEASURES: Clinical and ultrasound breast evaluations were performed for all included girls. Blood samples were analyzed by immunoassay and ultrasensitive liquid chromatography-tandem mass spectrometry (LC-MS/MS) to quantify estradiol (E2) and estrone (E1) from the subpicomolar range. RESULTS: References for E2, E1, luteinizing hormone, follicle-stimulating hormone, and sex hormone-binding globulin were constructed in relation to chronological age, Tanner stages, and US breast stages. An endocrine profile index score derived from principal component analysis of these analytes was a better marker of puberty onset than age or any individual hormone, with receiver-operating characteristic area under the curve 0.91 (P < 0.001). Ultrasound detection of nonpalpable glandular tissue in 14 out of 264 (5.3%) girls with clinically prepubertal presentation was associated with significantly higher median serum levels of E2 (12.5 vs 4.9 pmol/L; P < 0.05) and a distinct endocrine profile (arbitrary units; P < 0.001). CONCLUSIONS: We provide the first hormone references for use with US breast staging and demonstrate the application of endocrine profiling to improve detection of female puberty onset.


Assuntos
Mama/diagnóstico por imagem , Técnicas de Diagnóstico Endócrino/normas , Hormônios Gonadais/sangue , Puberdade/fisiologia , Adolescente , Mama/crescimento & desenvolvimento , Criança , Estudos Transversais , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Hormônios Gonadais/análise , Hormônios Gonadais/normas , Humanos , Hormônio Luteinizante/sangue , Noruega/epidemiologia , Valor Preditivo dos Testes , Valores de Referência , Globulina de Ligação a Hormônio Sexual/metabolismo , Ultrassonografia/métodos , Ultrassonografia/normas
15.
Acta Paediatr ; 109(8): 1612-1619, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31899821

RESUMO

AIM: To estimate references for testicular volume measured with ultrasound and Tanner stages of pubic hair in Norwegian boys, and to compare the timing of puberty with data from similar populations. METHODS: Testicular volume was derived from ultrasound measurements of testicular volume in a cross-sectional study of 514 healthy boys. A continuous testicular volume for age reference curve was estimated with the LMS method. Tanner stages for pubic hair were clinically assessed in 452 boys. Age references for pubertal milestones were estimated with probit regression. RESULTS: Puberty onset, defined by an ultrasound testicular volume of 2.7 mL, equivalent to an orchidometer volume of 4 mL, occurred at a mean (SD) age of 11.7 (1.1) years. The reference range was 9.7 (3rd) to 13.7 years (97th percentile). Pubic hair (Tanner stage 2) appeared on average at 11.8 (1.2) years with a corresponding reference range of 9.5-14.1 years. CONCLUSION: The references for testicular volume measured with ultrasound are continuous in age and allow for the quantification of pubertal development. The age distribution of reaching pubertal milestones was comparable with data from other Northern European countries.


Assuntos
Cabelo , Puberdade , Testículo , Criança , Estudos Transversais , Humanos , Masculino , Valores de Referência , Testículo/diagnóstico por imagem , Testículo/crescimento & desenvolvimento , Ultrassonografia
16.
Am J Med Genet A ; 179(9): 1884-1894, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31313512

RESUMO

Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity. Eight patients presented prenatally with short femora, whereas later in childhood their short-spine phenotype emerged. We observed the same pattern of changing skeletal proportion in other patients. The radiological findings included platyspondyly, irregular end plates of the elongated vertebral bodies, narrow disc spaces and short over-faced pedicles. In the limbs, there was mild shortening of femoral necks and tibiae in some patients, whereas others had minor epiphyseal or metaphyseal changes. In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients. Bi-parental inheritance was established where possible. Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across continents and may be under-recognized in infancy. This condition should be considered in the differential diagnosis of short femora presenting in the second trimester.


Assuntos
Nanismo/genética , Complexos Multienzimáticos/genética , Anormalidades Musculoesqueléticas/genética , Osteocondrodisplasias/genética , Sulfato Adenililtransferase/genética , Adolescente , Adulto , Criança , Pré-Escolar , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Feminino , Genes Recessivos/genética , Predisposição Genética para Doença , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/fisiopatologia , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Linhagem , Radiografia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Sequenciamento do Exoma , Adulto Jovem
17.
Pediatr Radiol ; 48(11): 1576-1583, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29982956

RESUMO

BACKGROUND: Clinical assessment of pubertal breast development using Tanner staging is subjective. This has led to the introduction of ultrasound (US), aiming for a more objective analysis. However, information regarding its reliability is lacking. OBJECTIVE: To examine intra- and interobserver agreement of breast maturity staging using US and to examine the precision of direct measurements of the gland. MATERIALS AND METHODS: Fifty-seven healthy girls (mean age: 10.9 years, range: 6.1 to 15.9 years) were examined independently by two observers using US of the left breast to score the glandular maturity stage on a 0-5 scale, and to measure the depth and diameter. One observer repeated the examination after 20 to 35 min to assess intra-observer agreement. Cohen's kappa with linear weights was used to examine intra- and interobserver agreement of the US staging, while the measurement precision was analyzed using Bland-Altman plots and 95% limits of agreement. RESULTS: The agreement of US staging on a 0-5 scale was very good (kappa 0.84; 95% confidence interval [CI] 0.78-0.91) for intra-observer observation and good (kappa 0.71; 95% CI 0.62-0.80) for interobserver observation. Measurements of glandular depth and diameter were unbiased for a single observer, but the variances were large both within and between observers. CONCLUSION: US using a scale from 0 to 5 is a reliable method to stage the development of glandular breast tissue during puberty in healthy girls. Measurements of glandular depth and diameter were found to be imprecise.


Assuntos
Mama/diagnóstico por imagem , Mama/crescimento & desenvolvimento , Ultrassonografia Mamária/métodos , Adolescente , Criança , Feminino , Humanos , Variações Dependentes do Observador , Reprodutibilidade dos Testes
18.
Acta Paediatr ; 107(2): 255-261, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28871598

RESUMO

AIM: There is no evidence on the effect of universal ultrasound screening on developmental dysplasia of the hip. We examined the impact of adding an ultrasound examination to a one examiner clinical screening strategy on treatment, follow-up rates and the number of cases detected late in a low-prevalence population. METHODS: All eligible babies born at Kongsberg Hospital, Norway, from 1998 to 2006 (n = 4245) underwent both clinical and ultrasound hip examinations within three days of life. Indications for immediate treatment were positive Barlow or Ortolani manoeuvres and, or, sonographic dysplasia. Sonographic immature hips were followed until normalisation. Treatment rates and rates from the 1989 to 1997 prestudy period (n = 3594), including late diagnoses, were collected from hospital records. RESULTS: Treatment was initiated in 90 (2.1%) infants (74 girls), 63 (70%) from birth, compared to 33 (0.9%) during the prestudy period. The follow-up rate did not change (11%). There were two (0.5/1000) and four (1.0/1000) cases detected late, respectively. No one underwent surgery during the first year of life and no avascular necrosis was seen. CONCLUSION: Adding universal ultrasound to clinical screening performed by the same, experienced paediatrician doubled the treatment rate, without influencing the already low numbers of late cases.


Assuntos
Luxação Congênita de Quadril/diagnóstico por imagem , Programas de Rastreamento , Ultrassonografia , Diagnóstico Tardio , Feminino , Luxação Congênita de Quadril/epidemiologia , Luxação Congênita de Quadril/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Noruega/epidemiologia , Prevalência , Radiografia , Estudos Retrospectivos
19.
AJR Am J Roentgenol ; 208(6): 1352-1357, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28333544

RESUMO

OBJECTIVE: The presence of findings at wrist MRI that may mimic disease is a diagnostic problem. The purpose of this study is to examine the occurrence of bone marrow changes resembling edema, joint fluid, and ganglion cysts over time, in a cohort of healthy children. MATERIALS AND METHODS: Seventy-four of 89 healthy children included in a study of normal MRI findings of the wrists were reexamined after a period of 4 years, using the same 1.5-T MRI technique-namely, a coronal T1-weighted and a T2-weighted fat-saturated sequence. A history of handedness, diseases, and sports activity was noted. RESULTS: Bone marrow edema or edemalike changes were seen in 29 of 74 (39.2%) wrists in 2013 as compared with 35 of 72 (48.6%) wrists in 2009 (p = 0.153), all in different locations. Changes were found in central parts of the bone, on both sides of a joint, or near bony depressions. Fifty percent of all subjects had at least one fluid pocket greater than or equal to 2 mm. The location was unchanged in 47% of the joints. In 24% of the individuals, at least one ganglion cyst was seen. Six ganglion cysts present on the first scan were not seen on the follow-up scan, and 11 new ganglion cysts had appeared. CONCLUSION: Awareness of normal MRI appearances of the growing skeleton is crucial when interpreting MRI of children, and such findings must not be interpreted as pathologic abnormalities.


Assuntos
Doenças da Medula Óssea/diagnóstico por imagem , Edema/diagnóstico por imagem , Cistos Glanglionares/diagnóstico por imagem , Imageamento por Ressonância Magnética , Cisto Sinovial/diagnóstico por imagem , Punho/diagnóstico por imagem , Adolescente , Doenças da Medula Óssea/patologia , Criança , Estudos de Coortes , Diagnóstico Diferencial , Edema/patologia , Reações Falso-Positivas , Feminino , Seguimentos , Cistos Glanglionares/patologia , Humanos , Masculino , Noruega , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Cisto Sinovial/patologia , Líquido Sinovial/citologia , Punho/patologia
20.
Pediatr Radiol ; 47(1): 82-88, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27815616

RESUMO

BACKGROUND: Patients with Ewing sarcoma are subject to various diagnostic procedures that incur exposure to ionising radiation. OBJECTIVE: To estimate the radiation doses received from all radiologic and nuclear imaging episodes during diagnosis and treatment, and to determine whether 18F-fluorodeoxyglucose positron emission tomography - computed tomography (18F-FDG PET-CT) is a major contributor of radiation. MATERIALS AND METHODS: Twenty Ewing sarcoma patients diagnosed in Norway in 2005-2012 met the inclusion criteria (age <30 years, operable disease, uncomplicated chemotherapy and surgery, no metastasis or residual disease within a year of diagnosis). Radiation doses from all imaging during the first year were calculated for each patient. RESULTS: The mean estimated cumulative radiation dose for all patients was 34 mSv (range: 6-70), radiography accounting for 3 mSv (range: 0.2-12), CT for 13 mSv (range: 2-28) and nuclear medicine for 18 mSv (range: 2-47). For the patients examined with PET-CT, the mean estimated cumulative effective dose was 38 mSv, of which PET-CT accounted for 14 mSv (37%). CONCLUSION: There was large variation in number and type of examinations performed and also in estimated cumulative radiation dose. The mean radiation dose for patients examined with PET-CT was 23% higher than for patients not examined with PET-CT.


Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Doses de Radiação , Sarcoma de Ewing/diagnóstico por imagem , Adolescente , Neoplasias Ósseas/patologia , Criança , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Estadiamento de Neoplasias , Noruega , Compostos Radiofarmacêuticos , Sarcoma de Ewing/patologia , Adulto Jovem
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