RESUMO
HYPOTHESIS/PURPOSE: The prevalence of trochlear dysplasia is common in different populations. BACKGROUND: The prevalence of trochlear dysplasia in the general population, categorised by sex, race, age, and body mass index, has been sparse. This study aimed to define the prevalence of trochlear dysplasia based on the latter categories. STUDY DESIGN: Cohort retrospective study. METHODS: 1162 skeletal mature healthy femora were obtained from a CT-scan-based modelling system (SOMA). Thin slice CT scans were acquired exclusively for medical indications such as polytrauma (20%), CT angiography (70%) and other reasons (i.e. Total Joint Replacement) (10%). Trochlear dysplasia was measured using Pfirmann's method. Patient demographics such as age, race and sex were recorded. RESULTS: The overall prevalence of trochlear dysplasia is 4.5% and is far more common in Asian female patients compared to Caucasian, African and Middle Eastern knees. CONCLUSION: Overall, the prevalence of dysplasia in the general population was determined to be 4.5%, with female patients being more likely to suffer from the condition. Patients of Asian and Caucasian race were more likely to have trochlear dysplasia, while Middle Eastern male patients displayed more dysplastic values than their female counterparts.
Assuntos
Fêmur , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Estudos de Coortes , Fêmur/diagnóstico por imagem , Fêmur/anormalidades , Prevalência , Estudos Retrospectivos , População Branca/estatística & dados numéricos , População do Oriente Médio , População Africana , Povo AsiáticoRESUMO
BACKGROUND: Blount disease can occur at any time during the growth process, primarily with a bimodal distribution in children younger than 4 years old and adolescents. The disease process most commonly presents in Black adolescents, with disease severity positively correlated with obesity. Given the known associations among race, obesity, and socioeconomic status, we investigated the relationship between the degree of social deprivation and severity of lower extremity deformities among a community-based cohort with Blount disease. METHODS: A retrospective review of hospital records and radiographs of patients with previously untreated Blount disease was conducted. Patients were classified as having early-onset or late-onset Blount disease based on whether the lower limb deformity was noted before or after the age of 4 years. The area deprivation index (ADI), a nationally validated measure that assesses socioeconomic deprivation by residential neighborhood, was calculated for each patient as a surrogate for socioeconomic status. Higher state (range: 1 to 10) or national (range: 1 to 100) ADI corresponds to increased social deprivation. Full-length standing radiographs from index clinic visits were evaluated by 2 reviewers to measure frontal plane deformity. The association of ADI with various demographic and radiographic parameters was then analyzed. RESULTS: Of the 65 patients with Blount disease, 48 (74%) children were Black and 17 (26%) were non-black children. Nineteen children (32 limbs) had early-onset and 46 children (62 limbs) had late-onset disease. Black patients had significantly higher mean state (7.6 vs. 5.4, P =0.009) and national (55.1 vs. 37.4, P =0.002) ADI values than non-black patients. Patients with severe socioeconomic deprivation had significantly greater mechanical axis deviation (66 mm vs. 51 mm, P =0.008). After controlling demographic and socioeconomic factors, the results of multivariate linear regression showed that only increased body mass index (ß=0.19, 95% CI: 0.12-0.26, P <.001) and state ADI (ß=0.021, 95% CI: 0.01-0.53, P =.043) were independently associated with greater varus deformity. CONCLUSIONS: Socioeconomic deprivation was strongly associated with increased severity of varus deformity in children with late-onset Blount disease. Our analysis suggests that obesity and socioeconomic factors are the most influential with regard to disease progression. LEVEL OF EVIDENCE: Level III.
Assuntos
Doenças do Desenvolvimento Ósseo , Osteocondrose/congênito , Criança , Adolescente , Humanos , Pré-Escolar , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/epidemiologia , Estudos Retrospectivos , Obesidade , Fatores SocioeconômicosRESUMO
Legg-Calvé-Perthes disease (LCPD) and Blount's disease share a similar presenting age in addition to similar symptoms such as limp or knee pain. A little overlap is mentioned about both diseases. We sought to present cases of children having both conditions to discuss the implications of this co-occurrence on diagnosis and management. After institutional review board approval, we retrospectively reviewed records of four children who developed both Blount's disease and LCPD. Patient details and outcomes were analyzed. Radiographs were evaluated for the lateral pillar classification, Stulberg classification, tibial metaphyseal-diaphyseal angle and tibiofemoral angle. Two of the cases were initially diagnosed with Blount's disease and subsequently developed Perthes, one case presented initially with both disorders and the final case had Perthes followed by Blount's. Three children were obese and one was overweight. The common symptom to all patients was an abnormal gait, which was painless in two children and painful in two. Blount's disease required surgery in three children. Radiographs showed Lateral Pillar B, B/C border and C hips, and the final Stulberg was stage II (n = 2) or stage IV (n = 2). Obesity is associated with Blount's disease and LCPD, so obese children can be at an increased risk of developing both disorders. Therefore, a child with Blount's disease who has persistent, recurrent or worsening symptoms such as gait disturbance or thigh or knee pain might benefit from a careful physical exam of the hips to prevent a delayed or even missed LCPD diagnosis.
Assuntos
Doenças do Desenvolvimento Ósseo , Doença de Legg-Calve-Perthes , Osteocondrose , Obesidade Infantil , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/epidemiologia , Pré-Escolar , Feminino , Humanos , Doença de Legg-Calve-Perthes/diagnóstico por imagem , Doença de Legg-Calve-Perthes/epidemiologia , Masculino , Osteocondrose/diagnóstico por imagem , Osteocondrose/epidemiologia , Estudos RetrospectivosRESUMO
Background: Intrathoracic ribs are very rare congenital anomalies, and often discovered incidentally on chest X-ray. Since its first description by Lutz in 1947, approximately 50 cases have been reported in the literature till date. The aim is to review the all reported intrathoracic ribs, summarize their clinical features, and propose a potential classification. Methods: All relevant literatures were searched and reviewed. The terms include intrathoracic rib, intrathoracic bifid rib, trans-thoracic rib and intrathoracic rib anomaly. We have summarized the first finding events, origination, distribution, related anomalies and imaging features of intrathoracic rib, and propose an updated classification. Results: The patients' age at initial finding was from six weeks to 79 years old. Of all, sixty percent was less than 30 years old. There was no difference in gender. Most of them were reported by authors in western countries (85.3%, 58/68), and incidental findings by radiologist and respiratory physician. The intrathoracic rib occurs more frequently on the right side, and is usually single and unilateral. According to the new classification, type I and II was account for 45.6% and 35.3%, respectively. Conclusion: Intrathoracic rib is rare findings in clinical practice. It is useful that radiologists or clinician are familiarized with the imaging appearances of these malformations. These anomalies reflect some disturbances during the embryo development, leading us to propose a potential classification that could contribute to a better understanding of this rib anomaly.
Assuntos
Doenças do Desenvolvimento Ósseo/classificação , Doenças do Desenvolvimento Ósseo/epidemiologia , Costelas/anormalidades , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças Raras , Caixa Torácica/anormalidades , Adulto JovemRESUMO
BACKGROUND: Cam morphology is thought to originate near puberty and reflects a response of the peripheral aspect of the proximal femoral physis to increased local load. Participation in particular sports activities has been associated with cam morphology in contemporary patient populations; however, it is unclear whether cam is a recent phenomenon. There are limited data regarding the frequency of its occurrence and the general deviations in femoral anatomy in different historical populations. Such information may help to understand the possible influence of lifestyle and diet on cam morphology. QUESTIONS/PURPOSES: The purpose of this study was to evaluate femoral morphology in three historical populations. We asked: (1) Was cam morphology present in the three study populations, did those populations differ, and were there differences between sexes? (2) Were there differences in neck-shaft angle, version, or inclination between and among the examined populations? METHODS: We examined 204 adult femurs from the Neolithic population from Iran (n = 37, 3000 BC to 1631 BC), medieval population from Poland (n = 135, 10th to 13th centuries), and contemporary Australian aborigines (n = 32, early 20th century), provided by the Open Research Scan Archive, Museum of the First Piasts at Lednica and the University of Wroclaw, respectively. All three human populations represent different chronologic periods and lifestyles. All bones were scanned using CT and then measured on their three-dimensional (3-D) reconstructions in selected planes. Cam impingement was defined as an alpha angle > 55° measured on the inclination view. To evaluate the differences in anatomy between populations, we measured the true neck-shaft angle on the true AP view, apparent neck-shaft angle on the apparent AP view, the version angle on the version view, and the inclination angle on the inclination view. The prevalence of cam morphology and other anatomic parameters were compared among groups using chi-square test, one-way ANOVA with post hoc Tukey test, and paired t-test. RESULTS: Cam morphology was present in 5% of the Neolithic population from Iran, in 7% of the medieval population from Poland, and 3% of the contemporary Australian aborigine femurs (OR Neolithic population from Iran/the medieval population from Poland 0.7 [95% CI 0.2 to 3.4]; p = 0.67; OR Neolithic population from Iran/contemporary Australian aborigines 1.8 [95% CI 0.2 to 20.5]; p = 0.65; OR the medieval population from Poland/contemporary Australian aborigines 2.5 [95% CI 0.3 to 20.1]; p = 0.40). There were differences in the presence of cam morphology between the sexes in the medieval population from Poland with both femurs (females: 1% [1 of 76]; males: 15% [9 of 59]; p = 0.002). There was a difference in true neck-shaft angle between the Neolithic population from Iran (121° ± 6°) and contemporary Australian aborigines (131° ± 5°; mean difference 10° [95% CI 7° to 13°]; p < 0.001) and between the medieval population from Poland (124° ± 5°) and the contemporary Australian aborigines (mean difference 7° [95% CI 5° to 9°]; p < 0.001). Apparent neck-shaft angle differed between the Neolithic population from Iran (126° ± 6°) and the contemporary Australian aborigines (134° ± 5°; mean difference 8° [95% CI 6° to 11°]; p < 0.001), and between the medieval population from Poland (126° ± 6°) and the contemporary Australian aborigines (mean difference 9° [95% CI 7° to 11°]; p < 0.001). Moreover, we observed a difference in the version angle between the Neolithic population from Iran (19° ± 7°) and the medieval population from Poland (12° ± 9°; mean difference 7° [95% CI 4° to 10°]; p < 0.001] and in the inclination angle between aforementioned groups (18° ± 7° versus 11° ± 8°; mean difference 7° [95% CI 5° to 10°]; p < 0.001). CONCLUSION: This study found that cam morphology existed in historical populations at rates comparable with a contemporary population. CLINICAL RELEVANCE: The presence of cam morphology in historical populations suggests that cam morphology can develop outside of the intense sports activity seen in modern adolescents. Further study will help elucidate the etiology of cam morphology, which may be useful in the development of preventive strategies.
Assuntos
Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/história , Colo do Fêmur/patologia , Fêmur/patologia , Havaiano Nativo ou Outro Ilhéu do Pacífico/história , Adulto , Austrália/epidemiologia , Austrália/etnologia , Doenças do Desenvolvimento Ósseo/etnologia , Feminino , História do Século XX , História Antiga , História Medieval , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Irã (Geográfico)/etnologia , Masculino , Polônia/epidemiologia , Polônia/etnologiaRESUMO
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
Assuntos
Doenças do Desenvolvimento Ósseo/genética , Ciliopatias/genética , Predisposição Genética para Doença , Isoformas de Proteínas/genética , Adulto , Idoso , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/patologia , Ciliopatias/epidemiologia , Ciliopatias/patologia , Dineínas do Citoplasma/genética , Proteínas do Citoesqueleto/genética , Feminino , Genoma Humano/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Masculino , Proteínas de Membrana/genética , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Sequenciamento Completo do GenomaRESUMO
OBJECTIVE: To examine associations between birth defects and cancer from birth into adulthood. DESIGN: Population based nested case-control study. SETTING: Nationwide health registries in Denmark, Finland, Norway, and Sweden. PARTICIPANTS: 62 295 cancer cases (0-46 years) and 724 542 frequency matched controls (matched on country and birth year), born between 1967 and 2014. MAIN OUTCOME MEASURES: Relative risk of cancer in relation to major birth defects, estimated as odds ratios with 99% confidence intervals from logistic regression models. RESULTS: Altogether, 3.5% (2160/62 295) of cases and 2.2% (15 826/724 542) of controls were born with major birth defects. The odds ratio of cancer for people with major birth defects compared with those without was 1.74 (99% confidence interval 1.63 to 1.84). For individuals with non-chromosomal birth defects, the odds ratio of cancer was 1.54 (1.44 to 1.64); for those with chromosomal anomalies, the odds ratio was 5.53 (4.67 to 6.54). Many structural birth defects were associated with later cancer in the same organ system or anatomical location, such as defects of the eye, nervous system, and urinary organs. The odds ratio of cancer increased with number of defects and decreased with age, for both non-chromosomal and chromosomal anomalies. The odds ratio of cancer in people with any non-chromosomal birth defect was lower in adults (≥20 years: 1.21, 1.09 to 1.33) than in adolescents (15-19 years: 1.58, 1.31 to 1.90) and children (0-14 years: 2.03, 1.85 to 2.23). The relative overall cancer risk among adults with chromosomal anomalies was markedly reduced from 11.3 (9.35 to 13.8) in children to 1.50 (1.01 to 2.24). Among adults, skeletal dysplasia (odds ratio 3.54, 1.54 to 8.15), nervous system defects (1.76, 1.16 to 2.65), chromosomal anomalies (1.50, 1.01 to 2.24), genital organs defects (1.43, 1.14 to 1.78), and congenital heart defects (1.28, 1.02 to 1.59) were associated with overall cancer risk. CONCLUSIONS: The increased risk of cancer in individuals with birth defects persisted into adulthood, both for non-chromosomal and chromosomal anomalies. Further studies on the molecular mechanisms involved are warranted.
Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Congênitas/epidemiologia , Neoplasias/epidemiologia , Adolescente , Adulto , Fatores Etários , Doenças do Desenvolvimento Ósseo/epidemiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Aberrações Cromossômicas , Dinamarca/epidemiologia , Feminino , Finlândia/epidemiologia , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/epidemiologia , Noruega/epidemiologia , Razão de Chances , Sistema de Registros , Fatores de Risco , Suécia/epidemiologia , Anormalidades Urogenitais/epidemiologia , Adulto JovemRESUMO
BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.
Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/fisiopatologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Transtornos Mentais/epidemiologia , Displasia Septo-Óptica/epidemiologia , Displasia Septo-Óptica/fisiopatologia , Distúrbios da Fala/epidemiologia , Adaptação Psicológica , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Transtornos Mentais/fisiopatologia , Países Baixos/epidemiologia , Fenótipo , Distúrbios da Fala/fisiopatologia , Síndrome , Adulto JovemRESUMO
BACKGROUND: The clinical and molecular characteristics of osteofibrous dysplasia (OFD)-like adamantinoma (AD) differ from those of classic AD. Most reports about OFD-like AD are case reports or small case series. More cases from different centers are still warranted. METHODS: The orthopedic oncology database of our institution was searched to identify patients with AD. The cases of OFD-like and classic AD of the long bones were retrospectively analyzed. Between December 1999 and August 2016, 23 patients were treated for AD, comprising seven with OFD-like AD and 16 with classic AD. The outcomes were compared between AD subtypes. RESULTS: In the OFD-like AD group, four lesions were treated with extensive curettage, while three were treated with wide resection. The median follow-up duration in the OFD-like AD group was 66 months (range 43-131 months). At the end of follow-up, there was only one case of local recurrence (LR) in the OFD-like AD group, giving a LR rate of 14.3% (1/7). No distant metastasis or progression to classic AD was detected in the OFD-like AD group. In the classic AD group, the treatments were below-the-knee amputation in one patient with extensive tibial and fibular lesions, curettage with a bone graft in one patient who was diagnosed with OFD based on a core needle biopsy, hemi-cortical excision and reconstruction in two patients, and segmental resection and reconstruction in 12 patients. At the end of follow-up, there were three cases of LR in the classic AD group, giving a LR rate of 18.8% (3/16); two patients developed lung metastasis after LR and died of the disease at 88 and 126 months after the first surgery in our hospital, respectively. The classic AD group had a metastatic rate of 12.5% (2/16), a final limb salvage rate of 75%, and estimated 5- and 10-year survival rates of 88.9% and 77.1%, respectively. CONCLUSIONS: OFD-like AD has a better outcome than classic AD. For OFD-like AD, extensive curettage is suggested if the tumor extent allows. For classic AD, aggressive resection with wide margins is essential to achieve local control. A long-term follow-up is necessary due to the possibility of late complications.
Assuntos
Adamantinoma , Doenças do Desenvolvimento Ósseo , Adamantinoma/diagnóstico por imagem , Adamantinoma/epidemiologia , Adamantinoma/patologia , Adamantinoma/cirurgia , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/patologia , Doenças do Desenvolvimento Ósseo/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Margens de Excisão , Procedimentos Ortopédicos/métodos , Procedimentos Ortopédicos/estatística & dados numéricos , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
An associated femoral deformity in patients with Blount's disease is not commonly described in the literature. The objective of this study is to establish the presence and magnitude of deformity in the coronal plane of the distal femur in children of all ages with Blount's disease and compare this to a matched cohort of children from the same population. This was a retrospective review of patients from an academic hospital. A control group was established by matching for age and gender from a group of unaffected patients with mid to proximal third femur fractures or controls at the same hospital. Study participants were categorized by age at onset of deformity as follows: infantile (<4 years), juvenile (4-10 years) and adolescent (>10 years). The measurements of the anatomic lateral distal femoral angle (aLDFA) were recorded and the Wilcoxon rank-sum test was used to determine statistically significant differences in the LFDA between children with Blount's disease and those without. Seventy-two Black African children were included in the study with 118 affected limbs (27 infantile, 55 juvenile and 36 adolescent). The overall average aLDFA for all patients with Blount's disease was 87° (range 73-100°). Overall, children with Blount's disease had a higher aLDFA than children without (87° vs. 82°). There was a significant association between LDFA in the control group and children with Blount's disease in each of the three groups. This study found distal femoral varus deformity to be present in all groups of children with Blount's disease. In this study population, it was most significant in the infantile and adolescent groups when compared to a control group from the same population. Although further studies are required, the surgeon must always assess the distal femoral component in treating children with Blount's disease.
Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Fêmur/anormalidades , Fêmur/diagnóstico por imagem , Osteocondrose/congênito , Adolescente , Fatores Etários , Doenças do Desenvolvimento Ósseo/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Osteocondrose/diagnóstico por imagem , Osteocondrose/epidemiologia , Estudos RetrospectivosRESUMO
BACKGROUND: Obesity is strongly associated with both Blount disease and obstructive sleep apnea (OSA). Obesity increases risks for anesthetic and postoperative complications, and OSA can further exacerbate these risks. Since children with Blount disease might have both conditions, we sought to determine the perioperative complications and the prevalence of OSA among these children. METHODS: Patients younger than 18 years undergoing corrective surgery for Blount disease were identified from 2 sources as follows: a retrospective review of records at a single institution and querying of the Kids' Inpatient Database, a nationally representative database. RESULTS: At our institution, the prevalence of OSA among patients surgically treated for Blount disease was 23% (42/184). Blount patients were obese (100%), and predominately African American (89%), and male (68%). Patients were treated for OSA before surgery, and 2 patients (1%) had postoperative hypoxemia. In contrast, of 1059 cases of Blount disease from the Kids' Inpatient Database, 3% were diagnosed with OSA. In total, 4.4% of all the Blount children experienced complications, including hypoxemia, respiratory insufficiency, atelectasis, and arrhythmias. Complications were associated with 4.3 additional days of hospitalization (P<0.0001) and 39% additional hospital charges (P=0.002). CONCLUSIONS: Data from the national database showed a low rate of OSA prevalence but high respiratory and OSA-associated complications, perhaps indicating that OSA may be underdiagnosed in children with Blount disease. Affected patients, especially ones with untreated OSA, sustain increased surgical morbidity. A high index of suspicion and preoperative planning helps alleviate the burden of OSA among these patients. LEVEL OF EVIDENCE: Level III-case-control study.
Assuntos
Doenças do Desenvolvimento Ósseo/complicações , Obesidade/complicações , Osteocondrose/congênito , Complicações Pós-Operatórias/epidemiologia , Apneia Obstrutiva do Sono/epidemiologia , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/cirurgia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Hipóxia/etiologia , Masculino , Osteocondrose/complicações , Osteocondrose/epidemiologia , Osteocondrose/cirurgia , Polissonografia , Complicações Pós-Operatórias/etiologia , Prevalência , Estudos Retrospectivos , Fatores de Risco , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/etiologia , Estados Unidos/epidemiologiaRESUMO
The oral cavity is one of the main route for environmental contaminations associated to many chronic diseases (cancers, fertility and behavior disorders for example) via alimentation, medications and respiration. These environmental factors including, among others, endocrine disruptors and excessive fluoride can disrupt dental development and thus generate irreversible enamel defects. These defects are then treated with materials that may release molecules capable of generating these defects, leading to a vicious circle, particularly in pregnant women and young children. The present paper aims to review the state of knowledge, questions and controversies on common environmental factors in contact with the oral cavity. It also reviews their mechanisms of action and the mediators involved in enamel pathologies associated with environmental conditions. Dental tissues can not only be targeted by environmental factors but can also serve as early and easily accessible markers of exposure to these agents. Understanding and characterizing the environmental impact in the oral cavity will help to prevent multiple diseases, oral and distant, whose link with oral homeostasis is just being explored.
TITLE: La sphère orale, cible et marqueur de l'exposition environnementale - I. Défauts du développement dentaire. ABSTRACT: La cavité buccale est l'une des voies majeures des contaminations environnementales connues pour être impliquées dans de nombreuses pathologies chroniques (cancers, troubles de la fertilité et du comportement) via l'alimentation, les médications ou même la respiration. Ces facteurs environnementaux incluant, entre autres, des perturbateurs endocriniens et le fluor en excès, peuvent perturber le développement dentaire et ainsi générer des défauts irréversibles de l'émail. Ces défauts sont alors traités avec des matériaux dont certains libèrent des molécules capables à leur tour de générer ces défauts, conduisant à un cercle vicieux, notamment chez la femme enceinte et le jeune enfant. Cette synthèse fait le point sur l'état des connaissances, les questions et controverses sur les facteurs environnementaux courants susceptibles d'entrer en contact avec la sphère orale, leurs mécanismes d'actions et les médiateurs impliqués dans les pathologies de l'émail associées aux conditions environnementales.
Assuntos
Biomarcadores/análise , Doenças do Desenvolvimento Ósseo/induzido quimicamente , Exposição Ambiental/análise , Boca/fisiologia , Doenças Estomatognáticas/induzido quimicamente , Administração Oral , Doenças do Desenvolvimento Ósseo/epidemiologia , Criança , Pré-Escolar , Hipoplasia do Esmalte Dentário/induzido quimicamente , Hipoplasia do Esmalte Dentário/epidemiologia , Dieta , Vias de Administração de Medicamentos , Disruptores Endócrinos/toxicidade , Poluentes Ambientais/toxicidade , Feminino , Fluoretos/efeitos adversos , Humanos , Boca/efeitos dos fármacos , Boca/patologia , Gravidez , Doenças Estomatognáticas/epidemiologiaRESUMO
This study has mainly a descriptive aim, in which crude prevalence of minor skeletal congenital defects is calculated and sex differences are tested. Prevalence is compared with other studies to recognize regional patterns. Association with age-at-death and year-of-birth is tested to identify impact of environmental stress on minor congenital defects presence. Testing association between defects will identify defects with a probable identical etiology. Chi-square was used to identify sex differences, between studies differences, and to test relationships between defects and Spearman correlation to verify correlation intensity. T-test was used to test age-at-death and year-of-birth differences in defects prevalence. There were no statistically significant differences in prevalence of minor skeletal defects for sex and age-at-death. There were statistically significant differences in year-of-birth for sternal aperture and pectus excavatum (crude prevalence was higher for those who were born earlier). There was a statistical significant association between pectus excavatum and manubrium mesosternal joint and atlas posterior/lateral bridging and notochord defects. For most defects, this study has lower prevalence than other studies. From 18 minor axial skeletal congenital defects analyzed, prevalence ranges from absent to 26.3 (notochord defects). Pectus excavatum and manubrium mesosternal joint might have a similar etiology as well as atlas posterior/lateral bridging and notochord defects. This study has lower prevalence, for almost all defects, than other studies. None of the minor congenital defects tested might, at this time, be considered useful stress markers.
Assuntos
Doenças do Desenvolvimento Ósseo , Coluna Vertebral/anormalidades , Esterno/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antropologia Física , Doenças do Desenvolvimento Ósseo/congênito , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/patologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto JovemAssuntos
Acondroplasia/epidemiologia , Doenças do Desenvolvimento Ósseo/congênito , Doenças do Desenvolvimento Ósseo/genética , Acondroplasia/tratamento farmacológico , Fosfatase Alcalina/efeitos dos fármacos , Fosfatase Alcalina/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Humanizados , Desenvolvimento Ósseo , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/epidemiologia , Ensaios Clínicos como Assunto , Gerenciamento Clínico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Hipofosfatasia/tratamento farmacológico , Hipofosfatasia/prevenção & controle , Imunoglobulina G/uso terapêutico , Terapia de Alvo Molecular/métodos , Fenótipo , Radiografia/métodos , Proteínas Recombinantes de Fusão/uso terapêuticoRESUMO
OBJECTIVE: The ubiquity of cribra orbitalia in skeletal samples has led to rigorous debate over their etiology, with most concluding that nutrition, physiological stressors, and environmental disease vectors synergistically contribute to lesion development. To parse the relative contributions of these etiological factors in the prehistoric Andes, this spatial paleopathological meta-analysis investigates the relationship between population-wide prehistoric Andean cribra orbitalia rates and geographic, climatic, and hydrological variables. METHODS: Crude prevalence patterns of cribra orbitalia from 61 archaeological sites were plotted and analyzed with geostatistical methods to explore spatial patterns in the distribution of anemia-associated lesions. Multiple linear regression modeling was performed on 19 spatial variables suspected to contribute to various forms of anemia that result in cribrotic lesions. RESULTS: Spatially-clustered high cribra orbitalia rates exist around the Central Peruvian coast, but are paradoxically low on the Ecuadorian coast. Multiple regression shows that elevation, temperature, and precipitation were not predictive of lesion rates. Multiple regression models show that aridity and seasonal variability in freshwater supply, together, explained a third of the variation in lesion rates. CONCLUSION: While cribra orbitalia has long been tied to coastal proximity, these results suggest environmental constraints such as the need for water storage could have promoted malnutrition and pathogenic infection more than mere coastal proximity. LIMITATIONS OF THIS STUDY: This analysis is limited by the paucity of data from highland sites and by the assumption that burials are local to the excavation site. SUGGESTIONS FOR FUTURE RESEARCH: Future studies will integrate isotopic and remotely-sensed data into models to explore links between water security, nutrition, and disease.
Assuntos
Doenças do Desenvolvimento Ósseo/história , Órbita , Paleopatologia , Projetos de Pesquisa , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/patologia , Difusão de Inovações , Hotspot de Doença , Previsões , Nível de Saúde , História Antiga , Humanos , Órbita/patologia , Paleopatologia/tendências , Prevalência , Projetos de Pesquisa/tendências , América do SulRESUMO
Blount's disease or bowed leg deformity, is a unilateral or bilateral growth deformity of the medial proximal tibia that leads to a tibial varus deformity. A distinction can be made in an early and late onset type. The disease seems to have a predisposition for certain descends. Since the first publication of Blount's disease, different hypotheses on the aetiology are proposed but no consensus exists. The objective of this study is to provide an overview of the available hypotheses on the aetiology of Blount's disease since its first description and assessment of the available level of evidence, the quality of evidence and the occurrence of bias supporting these individual hypotheses. A systematic search according to the PRISMA statement was conducted using PubMed, MEDLINE, EMBASE and the Cochrane Library using a broad combination of terminology to ascertain a complete selection. Proper MESH search criteria were formulated and the bibliographic search was limited to English and Dutch language articles. Articles with no mention of aetiology or a disease related to Blount's were excluded. Level of evidence and types of bias were assessed. Thirty-two articles that discuss the aetiology of Blount's disease were selected. A variety of hypotheses was postulated in these articles with most research in the field of increased mechanical pressure (obesity, early walking age) and race (descend). Blount's disease most likely has a multifactorial origin with influence of genetic and racial predisposition, increased mechanical pressure on the growth plate as a consequence of obesity or early walking age and possibly also nutrition. However, the exact aetiology remains unclear, the probable explanation is that multifactorial factors are all contributing to the development of Blount's disease. Histological research has shown that a disorganization of bone and cartilage structures on the medial side of the proximal tibial physis is present in patients with Blount's disease. Based on the available evidence on the aetiology of Blount's disease, we conclude that it is multifactorial. Most papers focus only on one hypotheses of Blount's disease occurrence and all are characterized as low level of evidence. There seems to be a preference for certain descends. Further research on especially genetic predisposition is needed to provide more insight in this factor of Blount's disease.
Assuntos
Doenças do Desenvolvimento Ósseo , Osteocondrose/congênito , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/etiologia , Causalidade , Humanos , Osteocondrose/epidemiologia , Osteocondrose/etiologiaRESUMO
BACKGROUND: Slipped capital femoral epiphysis (SCFE) and Blount disease are strongly associated with pediatric obesity, yet they have only recently been identified as indications for consideration of metabolic and bariatric surgery (MBS). OBJECTIVES: To describe the relationships between pediatric obesity, MBS, SCFE, and Blount disease. SETTING: Nationwide database. METHODS: The national inpatient sample was used to identify patients ≤20 years old with obesity who underwent MBS from 2007 to 2016. Presence of SCFE and Blount disease was similarly extracted. RESULTS: The overall prevalence of SCFE and Blount disease among patients ≤20 years old is .02% for both (14,976, 11,238 patients, respectively) with no statistically significant change over the study period (P = .68, .07, respectively). The rates of SCFE and Blount disease in children with and without obesity are .46% versus .02% and .36% versus .01%, respectively (P < .001 for both). The mean age of patients with SCFE and obesity was 12 years old, while the mean age of those without obesity was 12.2 years old (P = .03). None of the children with obesity and SCFE underwent MBS. Similarly, the mean age of patients with Blount disease and obesity was 12.6 years old, while the mean age of those without obesity was 13.1 years old. Moreover, the mean age of children with Blount disease and obesity who underwent MBS was 16 years old (P < .001). CONCLUSIONS: Orthopedic complications remain a persistent problem in the pediatric population who suffer from obesity. Despite being diagnosed at a young age, patients with SCFE and/or Blount disease are not undergoing MBS until their later adolescent years, potentially leading to unnecessary disease progression or recurrence of disease after orthopedic interventions. Therefore, SCFE and Blount disease should be considered indications for early consideration of MBS in this pediatric population.
Assuntos
Cirurgia Bariátrica , Doenças do Desenvolvimento Ósseo , Osteocondrose/congênito , Obesidade Infantil , Escorregamento das Epífises Proximais do Fêmur , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/cirurgia , Criança , Feminino , Humanos , Masculino , Osteocondrose/epidemiologia , Osteocondrose/etiologia , Osteocondrose/cirurgia , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Obesidade Infantil/cirurgia , Escorregamento das Epífises Proximais do Fêmur/epidemiologia , Escorregamento das Epífises Proximais do Fêmur/etiologia , Escorregamento das Epífises Proximais do Fêmur/cirurgiaRESUMO
Thoracolumbar intervertebral disk herniation (TL-IVDH) with caudal articular process anomalies has been reported in Pugs. It currently remains unclear whether congenital caudal articular process aplasia/hypoplasia predisposes to the development of TL-IVDH. However, there are difficulties in proving the causal relationship between caudal articular process anomalies and TL-IVDH. The aim of this study was to describe the prevalence of TL-IVDH at the vertebral space containing anomalous and normal caudal articular processes in Pugs. Fifty-seven pugs were eligible to be included in this study. Caudal articular process aplasia/hypoplasia affected 52/57 (91.2%) dogs. The caudal articular process anomalies were most frequently located between T10 and T13. Colocalization of caudal articular process aplasia/hypoplasia and TL-IVDH was detected in 11 dogs (19.3%). The prevalence of TL-IVDH at vertebral spaces containing abnormal caudal articular processes was 12.3%, whereas the prevalence of TL-IVDH at vertebral spaces containing normal articular processes was 2.4%. With the increase in the number of vertebrae with caudal articular process anomalies, the prevalence of TL-IVDH also increased. The results of this study suggested the prevalence of caudal articular process anomalies was high in Pugs. The caudal articular process anomalies could be associated with TL-IVDH. A large cohort is needed to prove the causal relationship between caudal articular process anomalies and TL-IVDH.
Assuntos
Doenças do Desenvolvimento Ósseo/veterinária , Doenças do Cão/epidemiologia , Degeneração do Disco Intervertebral/veterinária , Deslocamento do Disco Intervertebral/veterinária , Animais , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Cão/etiologia , Cães , Feminino , Predisposição Genética para Doença , Degeneração do Disco Intervertebral/epidemiologia , Degeneração do Disco Intervertebral/etiologia , Deslocamento do Disco Intervertebral/epidemiologia , Deslocamento do Disco Intervertebral/etiologia , Vértebras Lombares/anormalidades , Masculino , Prevalência , Vértebras Torácicas/anormalidadesRESUMO
This paper describes the clinical features of paediatric patients with tracheal bronchus (TB) identified with flexible bronchoscopy (FB) in a tertiary care hospital. A retrospective review of every FB with diagnosis of TB carried out in our centre since 1990 was performed which considered specifically: age at diagnosis, gender, semiology, somatic anomalies, tracheal bronchus type, other bronchoscopic findings and clinical progress. Out of 1665â¯FB in 1337 patients, TB was found in 26 (1.9%). The median age was 15â¯months (age range 1â¯month-13â¯years), with no gender differences. Of 26 patients, a total of 24 had associated congenital pathologies (92.3%) (heart disease 69%, chromosomal abnormality 35% and spinal fusion defect 11%). FB was performed for a number of reasons including: recurrent or persistent wheezing, pneumonia or atelectasis, persistent stridor and refractory cough. The type of TB identified was primarily ectopic lobar of the right upper lobe (73%) and the apical supernumerary (11.5%). In addition to TB, other defects were found by FB in 90% of cases, such as tracheomalacia, bronchomalacia or tracheal stenosis. The review confirmed a higher prevalence of TB than expected in previous series and highlighted its association with other airway or somatic malformations, notably congenital cardiac defects and spinal fusion defects. All patients were managed conservatively for the TB.
Assuntos
Brônquios/anormalidades , Broncoscopia , Anormalidades do Sistema Respiratório/epidemiologia , Traqueia/anormalidades , Anormalidades Múltiplas/epidemiologia , Adolescente , Doenças do Desenvolvimento Ósseo/epidemiologia , Broncomalácia/epidemiologia , Criança , Pré-Escolar , Aberrações Cromossômicas/estatística & dados numéricos , Tosse , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Masculino , Pneumonia , Atelectasia Pulmonar , Sons Respiratórios , Anormalidades do Sistema Respiratório/diagnóstico , Estudos Retrospectivos , Coluna Vertebral/anormalidades , Centros de Atenção Terciária , Estenose Traqueal/epidemiologia , Traqueomalácia/epidemiologiaRESUMO
INTRODUCTION: Developmental dysplasia of the hip (DDH) refers to the spectrum of abnormalities of maturation and development of the hip. Breech presentation is associated with DDH. This risk factor can be modified by external cephalic version (ECV). The aim of this study is to evaluate the incidence of DDH in patients who successfully underwent ECV, as well as to evaluate need for these children (breech for a period during gestation) to be included in the DDH screening protocol. MATERIAL AND METHODS: A prospective cohort study was conducted in the Hospital Universitario de Vigo from January 1, 2015 to December 31, 2015. It included children born in cephalic presentation after a successful ECV, as well as children born in breech presentation. They all were screened for DDH by ultrasound examination of the hip. RESULTS: Out of a total of 122 newborns included in the study, ECV was attempted on 67 (54.9%), of which 35 (52.2%) were successful. Out of the 14 children diagnosed with DDH, 3 of those born in cephalic presentation after a successful ECV were found to be normal on physical examination. CONCLUSIONS: Successful ECV is associated with a lower incidence of DDH as regards breech presentation. However, these patients should be included in the DDH screening protocol for the early detection of this disorder.