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1.
Ned Tijdschr Geneeskd ; 1662022 05 02.
Artículo en Holandés | MEDLINE | ID: mdl-35499697

RESUMEN

BACKGROUND: Since January 2021, over 24 million COVID-19 vaccines have been administered. Rarely vaccination in the deltoid muscle may lead to complications in the shoulder, called SIRVA (shoulder injury related to vaccine administration). General knowledge on SIRVA amongst doctors and other healthcare workers is lacking. However, due to the large amount of vaccinations which have been administered over the last year, SIRVA is seen more often. CASE REPORT: In this report, two cases of SIRVA due to septic arthritis and a shoulder abscess after administration of a COVID-19 vaccination, are described. CONCLUSION: SIRVA should be considered in case of shoulder complaints which persist longer than 48 hours after vaccination. Timely diagnosis and treatment by either the general practitioner or orthopaedic surgeon should be conducted to prevent long-term damage to the shoulder joint. Use of the correct vaccination technique is important to prevent the occurrence of SIRVA.


Asunto(s)
COVID-19 , Médicos Generales , Lesiones del Hombro , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Humanos , Hombro , Lesiones del Hombro/etiología , Vacunación/efectos adversos
2.
Children (Basel) ; 9(5)2022 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-35626880

RESUMEN

OBJECTIVE: The objective of this study is to create an overview of the possible aetiologies of windswept deformity and to emphasize the points of attention when presented with a case. METHODS: A systematic search according to the PRISMA statement was conducted using PubMed, African Journals Online, Cochrane, Embase, Google Scholar, and Web of Science. Articles investigating the aetiology of windswept deformity at the knee in children, and articles with windswept deformity as an ancillary finding were included. The bibliographic search was limited to English-language articles only. The level of evidence and methodological appraisal were assessed. RESULTS: Forty-five articles discussing the aetiology of windswept deformity were included. A variety of aetiologies can be brought forward. These can be divided into the following groups: 'Rickets and other metabolic disorders', 'skeletal dysplasias and other genetic disorders', 'trauma' and 'descriptive articles without specific underlying disorder'. With rickets being the largest group. Interestingly, in the group without a specific underlying disorder, all patients were from African descent, being otherwise healthy and presented with windswept deformity between two and three years of age. CONCLUSION: We have presented an overview that may help identify the underlying disorder in children with windswept deformity. A step-by-step guide for clinicians who see a child with windswept deformity is provided. Even though, according to the Oxford level of evidence, most articles have a low level of evidence.

3.
Noncoding RNA Res ; 7(2): 55-65, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35261930

RESUMEN

Introduction: Ribosome biogenesis is integrated with many cellular processes including proliferation, differentiation and oncogenic events. Chondrogenic proliferation and differentiation require a high cellular translational capacity to facilitate cartilaginous extracellular matrix production. We here investigated the expression dynamics of factors involved in ribosome biogenesis during in vitro chondrogenic differentiation and determined whether protein translation capacity adapts to different phases of chondrogenic differentiation. Materials: SnoRNA expression during ATDC5 differentiation was analyzed by RNA sequencing of samples acquired from day 0 (progenitor stage), 7 (chondrogenic stage) and day 14 (hypertrophic stage). RT-qPCR was used to determine expression of fibrillarin, dyskerin, UBF-1, Sox9, Col2a1, Runx2, Col10a1 mRNAs and 18S, 5.8S and 28S rRNAs. Protein expression of fibrillarin, dyskerin and UBF-1 was determined by immunoblotting. Ribosomal RNA content per cell was determined by calculating rRNA RT-qPCR signals relative to DNA content (SYBR Green assay). Total protein translational activity was evaluated with a puromycilation assay and polysome profiling. Results: As a result of initiation of chondrogenic differentiation (Δt0-t7), 21 snoRNAs were differentially expressed (DE). Hypertrophic differentiation caused DE of 23 snoRNAs (Δt7-t14) and 43 when t0 was compared to t14. DE snoRNAs, amongst others, target nucleotide modifications in the 28S rRNA peptidyl transferase center and the 18S rRNA decoding center. UBF-1, fibrillarin and dyskerin expression increased as function of differentiation and displayed highest fold induction at day 5-6 in differentiation. Ribosomal RNA content per cell was significantly increased at day 7, but not at day 14 in differentiation. Similar dynamics in translational capacity and monosomal ribosome fraction were observed during differentiation. Conclusion: The expression of a great number of ribosome biogenesis factors is altered during chondrogenic differentiation of ATDC5 cells, which is accompanied by significant changes in cellular translational activity. This elucidation of ribosome biogenesis dynamics in chondrogenic differentiation models enables the further understanding of the role of ribosome biogenesis and activity during chondrocyte cell commitment and their roles in human skeletal development diseases.

4.
J Pediatr Genet ; 11(1): 51-58, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35186391

RESUMEN

The combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise.

7.
Ned Tijdschr Geneeskd ; 1652021 05 05.
Artículo en Holandés | MEDLINE | ID: mdl-34346600

RESUMEN

A 12-year-old girl consults the orthopaedic surgeon to exclude somatic causes of her cervical pain. One of her specific symptom is nocturnal pain, which responds well to NSAIDs. SPECT-CT showed an osteoid osteoma of the C3 pedicle. Osteoid osteoma is mostly a self-limiting disease in young adults.


Asunto(s)
Neoplasias Óseas , Osteoma Osteoide , Antiinflamatorios no Esteroideos/uso terapéutico , Niño , Femenino , Humanos , Dolor de Cuello/etiología , Osteoma Osteoide/tratamiento farmacológico , Adulto Joven
8.
BMJ Paediatr Open ; 5(1): e001052, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33981863

RESUMEN

Objective: The objective of this study is to study familial inheritance for Blount disease to create better understanding of the aetiology of Blount disease. Methods: After reviewing patient files and conventional roentgenologic imaging, 139 patients with Blount disease were included in this cross-sectional study, of which 102 patients were interviewed. During the interviews, patient characteristics and family history were collected. Blood samples were taken from five patients and three families and a whole exome sequencing was performed. Results: Although patients came from all over the country, 90% of the patients belonged to the Akan tribe. A positive family history was found in 63 families (62%), of which, almost two-third had a positive family history in a first-degree family member. In most of the cases (64%), the varus legs resolved over time. In 9%, severe bowing remained 'just like the patient'. The results of the whole exome sequencing did not show a genetic predisposition. Conclusion: This study describes a large group of Blount patients. Because of the high numbers of positive family history and the centralisation of patients in the Akan region, a familial predisposition is suggested. Further genetic research is essential for better understanding of the possible multifactorial aetiology in Blount disease.


Asunto(s)
Enfermedades del Desarrollo Óseo , Osteocondrosis , Estudios Transversales , Ghana/epidemiología , Humanos , Osteocondrosis/congénito
9.
Foot Ankle Spec ; 14(1): 9-18, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31875408

RESUMEN

Background. The purpose of this study is to evaluate functional and radiological outcomes of subtalar arthroereisis in the treatment of symptomatic pediatric flexible flatfeet. Methods. A total of 16 patients (26 feet) were treated with a Kalix II as subtalar motion blocker between 2009 and 2014. Calcaneal pitch (CP) and Meary's angle (MA) were measured on radiographs preoperatively, directly postoperatively, and at follow-up 47 ± 17 (range 19-79) months. Patient satisfaction surveys were used to assess functional outcome and patient satisfaction. Results. Surgery was performed mostly for pain, walking problems, or a combination of both at a mean age of 12.5 ± 1.5 (range 10-15) years. Symptoms were relieved in 62.5% of patients in the postoperative phase and increased to 68.75% at follow-up. A statistically significant increase in CP of 2.8° and decrease in MA of 14.0° was observed directly postoperatively, which persisted during the follow-up period irrespective of Kalix removal. Revision surgery was necessary in 6 cases (23%) because of arthroereisis migration. Conclusion. Subtalar Kalix II arthroereisis significantly reduced clinical symptoms and improved the CP and MA directly postoperatively, which persisted during follow-up, irrespective of Kalix removal. Therefore, subtalar arthroereisis is a considerable intervention to reduce symptoms in children with symptomatic flexible flatfeet.Levels of Evidence: Level IV: Case series.


Asunto(s)
Pie Plano/diagnóstico por imagen , Pie Plano/cirugía , Procedimientos Ortopédicos/métodos , Radiografía , Articulación Talocalcánea/cirugía , Adolescente , Calcáneo , Niño , Femenino , Pie Plano/fisiopatología , Estudios de Seguimiento , Humanos , Masculino , Rango del Movimiento Articular , Articulación Talocalcánea/fisiopatología , Factores de Tiempo , Resultado del Tratamiento
10.
J Pediatr Orthop B ; 29(4): 323-336, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31651748

RESUMEN

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.


Asunto(s)
Enfermedades del Desarrollo Óseo , Osteocondrosis/congénito , Enfermedades del Desarrollo Óseo/epidemiología , Enfermedades del Desarrollo Óseo/etiología , Causalidad , Humanos , Osteocondrosis/epidemiología , Osteocondrosis/etiología
11.
Ned Tijdschr Geneeskd ; 1632018 10 16.
Artículo en Holandés | MEDLINE | ID: mdl-30379506

RESUMEN

A 17-year-old boy presented with paraesthesia of the fourth and fifth finger and pain in both lower arms, radiating from the elbow down to the fingers. Symptoms were induced by flexing the elbows, concomitantly with a snapping ulnar nerve. There were no signs of tendinitis, or loss of strength or sensation.


Asunto(s)
Brazo/inervación , Articulación del Codo , Codo/patología , Dedos/inervación , Movimiento , Dolor , Nervio Cubital , Adolescente , Brazo/patología , Dedos/patología , Humanos , Masculino , Parestesia , Rango del Movimiento Articular
12.
Dev Med Child Neurol ; 59(12): 1230-1236, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-28815571

RESUMEN

AIM: To assess the effect of functional electrical stimulation (FES) of ankle dorsiflexors in children and adolescents with spastic cerebral palsy (CP) during walking. METHOD: A systematic review was performed using the American Academy of Cerebral Palsy and Developmental Medicine methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six databases were searched for studies applying interventions to patients aged younger than 20 years. Outcomes were classified according to the International Classification of Functioning, Disability and Health (ICF). RESULTS: Seven hundred and eighty abstracts were found, 35 articles were fully screened, and 14 articles were used for analysis. Only five articles (three studies) were of level I to III evidence. At ICF participation and activity level, there is limited evidence for a decrease in self-reported frequency of toe-drag and falls. At ICF body structure and function level, there is clear evidence (I-III) that FES increased (active) ankle dorsiflexion angle, strength, and improved selective motor control, balance, and gait kinematics, but decreased walking speed. Adverse events include skin irritation, toleration, and acceptation issues. INTERPRETATION: There are insufficient data supporting functional gain by FES on activity and participation level. However, evidence points towards a role for FES as an alternative to orthoses in children with spastic CP. WHAT THIS PAPER ADDS: Effects of functional electrical stimulation (FES) point towards a potential role as an alternative to orthoses for patients with spastic cerebral palsy (CP). Some evidence for a decrease in self-reported frequency of toe-drag and falls with the use of FES in spastic CP. Limited evidence for improvements in activity and participation in patients with spastic CP using FES.


Asunto(s)
Tobillo/fisiopatología , Parálisis Cerebral/terapia , Terapia por Estimulación Eléctrica/métodos , Músculo Esquelético/fisiopatología , Caminata/fisiología , Adolescente , Niño , Terapia por Estimulación Eléctrica/efectos adversos , Humanos
13.
J Child Orthop ; 9(5): 397-402, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26320759

RESUMEN

BACKGROUND: Multiple ostechondromas (MO) is an autosomal dominant inherited disease caused by mutated exostosin genes. It mostly affects the long bones and can lead to growth disturbances, especially disproportionate short stature. Both the local effect on growth plates and the systemic influence of the gene disorder on growth mechanisms might explain the diminished stature. PURPOSE: The hypothesis of this study is that the diminished stature in adults with MO is due to a systemic influence, leading to early skeletal maturation and early closure of the growth plate. Therefore, in these patients the skeletal age in adolescence is hypothesized to be higher than the calendar age. METHODS: Radiographs of the left hand were collected from 50 MO-affected children. The skeletal age was calculated using these radiographs according to the Greulich-Pyle bone scale and was compared to the calendar age at the time of radiography. RESULTS: Children aged 3-12 years had a significantly lower skeletal age compared to their calendar age (p = 0.030). Children aged 12-17 years had a significantly higher skeletal age (p = 0.019), especially boys. Skeletal maturation in children with MO therefore differs from their peers. CONCLUSION: In this study, the skeletal age in younger children with MO is lower than their calendar age. For adolescents, particularly boys, this is reversed, suggesting an earlier or faster closure of the growth plates. These findings support a systemic influence of the gene defect on growth rate.

15.
BMC Neurol ; 10: 52, 2010 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-20569438

RESUMEN

BACKGROUND: Cerebral palsy (CP) may cause severe spasticity, requiring neurosurgical procedures. The most common neurosurgical procedures are continuous infusion of intrathecal baclofen and selective dorsal rhizotomy. Both are invasive and complex procedures. We hypothesized that a percutaneous radiofrequency lesion of the dorsal root ganglion (RF-DRG) could be a simple and safe alternative treatment. We undertook a pilot study to test this hypothesis. METHODS: We performed an RF-DRG procedure in 17 consecutive CP patients with severe hip flexor/adductor spasms accompanied by pain or care-giving difficulties. Six children were systematically evaluated at baseline, and 1 month and 6 months after treatment by means of the Modified Ashworth Scale (MAS), Gross Motor Function Measure (GMFM) and a self-made caregiver's questionnaire. Eleven subsequent children were evaluated using a Visual Analogue Scale (VAS) for spasticity, pain and ease of care. RESULTS: A total of 19 RF-DRG treatments were performed in 17 patients. We found a small improvement in muscle tone measured by MAS, but no effect on the GMFM scale. Despite this, the caregivers of these six treated children unanimously stated that the quality of life of their children had indeed improved after the RF-DRG. In the subsequent 11 children we found improvements in all VAS scores, in a range comparable to the conventional treatment options. CONCLUSION: RF-DRG is a promising new treatment option for severe spasticity in CP patients, and its definitive effectiveness remains to be defined in a randomised controlled trial.


Asunto(s)
Parálisis Cerebral/cirugía , Ganglios Espinales/cirugía , Espasticidad Muscular/cirugía , Dolor/cirugía , Terapia por Radiofrecuencia , Radiocirugia/métodos , Adolescente , Cuidadores , Parálisis Cerebral/fisiopatología , Niño , Femenino , Estudios de Seguimiento , Cadera , Humanos , Masculino , Espasticidad Muscular/fisiopatología , Tono Muscular , Dolor/fisiopatología , Proyectos Piloto , Calidad de Vida , Índice de Severidad de la Enfermedad , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
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