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1.
J Foot Ankle Surg ; 63(3): 398-403, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38316372

RESUMEN

Noninvasive techniques are gold standard to redress Severe Neuromuscular Foot Deformity (SNFD). However, simple talectomy may be considered to obtain a stable, plantigrade, pain-free foot. We present a 10-year follow-up accessing radiological correction rates, functional outcomes, complications, and patient satisfaction. This retrospective case series evaluated talectomies in 2012 to 2022. Simple talectomy was combined with Steinman pin fixation of calcaneus to tibia for approximately 6 weeks. Diagnoses primarily included arthrogryposis multiplex congenita and cerebral palsy. Indications were pain, wounds/pressure marks, severe rigidity, and residual/recurrent deformity. The primary outcome was radiological correction. Tibiotalar angle (TiTa) and tibiocalcaneal angle (TiCa) were measured on mediolateral projections. Secondary outcomes were functional scores of pain/deformity graded as good, fair or poor. Furthermore, validated patient-reported outcome measures, that is, EQ-5D-5L and the Scoliosis Research Society-30 Questionnaire (2 items) assessed health-related quality of life and patient satisfaction. Nineteen talectomies in 11 patients were analyzed. Mean follow-up was 62 months (range 9-112 months). Mean TiTa was 137° (95%CI 128;146). TiCa improved significantly: Mean difference -24° (95%CI -44;-5, p = .02). All feet became plantigrade and pain-free with no skin issues. Functional outcomes were graded as 9/19 good, 10/19 fair and 0/19 poor. Parents/primary caregivers were mainly satisfied. Perceived health was 54 (95%CI 34;75) out of 100 on a visual analogue scale, emphasizing complex medical conditions. In conclusion, simple talectomy is a suitable salvage procedure for SNFD.


Asunto(s)
Pie Equinovaro , Humanos , Estudios Retrospectivos , Masculino , Femenino , Pie Equinovaro/cirugía , Niño , Adolescente , Astrágalo/cirugía , Satisfacción del Paciente , Adulto , Preescolar , Adulto Joven , Estudios de Seguimiento , Resultado del Tratamiento , Artrogriposis/cirugía
2.
Bone Jt Open ; 5(1): 3-8, 2024 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-38164740

RESUMEN

Aims: The present study seeks to investigate the correlation of pubofemoral distances (PFD) to α angles, and hip displaceability status, defined as femoral head coverage (FHC) or FHC during manual provocation of the newborn hip < 50%. Methods: We retrospectively included all newborns referred for ultrasound screening at our institution based on primary risk factor, clinical, and PFD screening. α angles, PFD, FHC, and FHC at follow-up ultrasound for referred newborns were measured and compared using scatter plots, linear regression, paired t-test, and box-plots. Results: We included 2,735 newborns, of whom 754 received a follow-up hip ultrasound within six weeks of age. After exclusion, 1,500 hips were included for analysis. Sex distribution was 372 male and 380 female, and the mean age at examination was 36.6 days (4 to 87). We found a negative linear correlation of PFD to α angles (p < 0.001), FHC (p < 0.001), and FHC during provocation (p < 0.001) with a 1 mm increase in PFD corresponding to a -2.1° (95% confidence interval (CI) -2.3 to -1.9) change in α angle and a -3.4% (95% CI -3.7 to -3.0) change in FHC and a -6.0% (-6.6 to -5.5) change in FHC during provocation. The PFD was significantly higher with increasing Graf types and in displaceable hips (p < 0.001). Conclusion: PFD is strongly correlated to both α angles and hip displaceability, as measured by FHC and FHC during provocation, in ultrasound of newborn hips. The PFD increases as the hips become more dysplastic and/or displaceable.

3.
Ugeskr Laeger ; 186(2)2024 01 08.
Artículo en Danés | MEDLINE | ID: mdl-38235722

RESUMEN

Non-pharmacological treatment for pain in children is seeing more interest as various interventions are investigated and found to be efficacious and free from adverse side effects. Some of the most used non-pharmacological treatments include distractive play, music therapy, virtual reality, hospital clowns, and hypnosis. This review summarises studies examining these modalities and finds that the available literature, although at times limited, mostly concludes that they are effective at reducing pain and/or anxiety in children. The population and setting for each modality are discussed.


Asunto(s)
Musicoterapia , Dolor , Niño , Humanos , Ansiedad , Trastornos de Ansiedad , Manejo del Dolor
4.
Acta Paediatr ; 113(2): 353-361, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38009533

RESUMEN

AIM: We investigated the reliability and validity of the Danish child and parent versions of the Gait Outcomes Assessment List (GOAL) questionnaires for ambulatory children with cerebral palsy (CP). METHODS: Translation and cultural adaptations were performed and content validity evaluated. Participants were enrolled between 2016 and 2018 from Aarhus University Hospital, Denmark. Children and parents completed the GOAL questionnaires twice for test-retest reliability. Discriminative validity was evaluated by comparing the child and parent GOAL scores between children with Gross Motor Function Classification System (GMFCS) levels I and II. The concurrent validity of the GOAL questionnaires were investigated by comparing them with Challenge-20, which assesses motor skills in children with CP. RESULTS: We studied 59 children (57% boys) with CP and GMFCS I-II at a mean age of 10.6 years. Test-retest intra-class correlations were excellent for the children (0.91, 95% confidence interval (CI) 0.83-0.96) and good for the parents (0.83, 95% CI 0.67-0.91). GOAL scores decreased with increasing GMFCS (p < 0.05). Both versions correlated well. The mean children's scores were significantly (6.2/100) higher than the parents' (p < 0.001). The GOAL scores correlated positively with Challenge-20. CONCLUSION: The Danish GOAL child and parent questionnaires demonstrated good reliability and content and discriminative and concurrent validity.


Asunto(s)
Parálisis Cerebral , Niño , Masculino , Humanos , Femenino , Parálisis Cerebral/diagnóstico , Reproducibilidad de los Resultados , Marcha , Encuestas y Cuestionarios , Padres , Evaluación de Resultado en la Atención de Salud , Dinamarca
5.
Acta Orthop ; 94: 594-599, 2023 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-38093629

RESUMEN

BACKGROUND AND PURPOSE: There is inconsistency in the literature regarding the relationship between increased birthweight and risk of developmental dysplasia of the hip (DDH). We aimed to investigate the correlation between birthweight and pubo-femoral distance (PFD), as well as Graf's α angle in newborns undergoing hip ultrasound examination at 6 weeks of age. PATIENTS AND METHODS: Basic newborn characteristics and ultrasound measurements were retrospectively collected during a 1-year study period. We excluded multiple births, newborns born at less than 37 gestational weeks, and incomplete information. Simple and multiple linear regression analyses were performed to evaluate the correlation of birthweight and PFD, and, second, birthweight and α angles including a stratified regression analysis investigating the potential effect modification of sex. RESULTS: 707 newborns (1,414 hips) were included. Mean birthweight was significantly higher for male newborns (P < 0.001). Increased birthweight was positively correlated to PFD values (crude coefficient 0.21, 95% confidence interval [CI] 0.10-0.32) and the correlation was still present after adjusting for sex, family history, and breech presentation (adjusted coefficient 0.18, CI 0.07-0.29). The stratified α angle model for the males was significant for both the crude coefficient (-0.73, CI -1.28 to -0.19) and the adjusted (-0.59, CI -1.15 to -0.03), and also for the females (crude coefficient -1.14, CI -1.98 to -0.31 and adjusted coefficient -1.15, CI -1.99 to -0.31). CONCLUSION: We found that increased birthweight positively correlated to PFD, and negatively correlated to α angle, but this was not of clinical significance.


Asunto(s)
Luxación Congénita de la Cadera , Embarazo , Femenino , Humanos , Recién Nacido , Masculino , Estudios Retrospectivos , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/epidemiología , Peso al Nacer , Fémur/diagnóstico por imagen , Examen Físico , Ultrasonografía
6.
Acta Orthop ; 94: 609-615, 2023 12 27.
Artículo en Inglés | MEDLINE | ID: mdl-38153250

RESUMEN

BACKGROUND AND PURPOSE: Temporary hemiepiphysiodesis by tension-band devices is commonly applied to correct angular limb deformities in children. We aimed to evaluate knee joint morphology after guided growth using these devices. PATIENTS AND METHODS: In a retrospective multicenter study we analyzed standardized anteroposterior long-leg radiographs of 222 limbs (285 implants) of patients treated by temporary hemiepiphysiodesis with either eight-Plates or FlexTacks for coronal angular deformities of the knee joint between 2013 and 2019. Femoral floor angle (FFA), femoral notch-intercondylar distance (FNID), and tibial roof angle (TRA) were measured pre- and postoperatively to assess the central knee joint morphology. Statistical exploratory analyses were performed using linear mixed models, t-tests, Wilcoxon signed-rank test, and Mann-Whitney U test. RESULTS: 217 FlexTacks (femur 106, tibia 111) in 104 children and 68 eight-Plates (femur 61, tibia 7) in 35 children were identified. Median time period under growth guidance was 11 months (range 4-42). No statistically significant change in the FFA was detected (eight-Plate: P = 0.2; FlexTack: P = 0.3). A statistically significant difference of the FNID was found in the eight-Plate group (P = 0.02), but not in the FlexTack group (P = 0.3). While TRA increased in both groups, a statistical significance was observed only in the FlexTack group (P < 0.01). CONCLUSION: We found minor but clinically irrelevant changes in knee morphology after the treatment.


Asunto(s)
Articulación de la Rodilla , Extremidad Inferior , Niño , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Tibia/diagnóstico por imagen , Tibia/cirugía , Fémur/diagnóstico por imagen , Fémur/cirugía , Tornillos Óseos , Estudios Retrospectivos , Placas Óseas
7.
Acta Orthop ; 94: 393-398, 2023 07 31.
Artículo en Inglés | MEDLINE | ID: mdl-37522246

RESUMEN

BACKGROUND AND PURPOSE: For correction of leg-length discrepancy or angular deformity of the lower limb in skeletally immature patients temporary or permanent (hemi-)epiphysiodesis can be employed. These are reliable treatments with few complications. Recently, radiographic analysis of treatment-related alterations of the central knee anatomy gained interest among pediatric orthopedic surgeons. To date the comparison and adequate interpretation of potential changes of the central knee anatomy is limited due to the lack of defined standardized radiographic references. We aimed to establish new reference values of the central knee anatomy. PATIENTS AND METHODS: A retrospective analysis of calibrated longstanding anteroposterior radiographs of 254 skeletally immature patients with a chronological age ranging from 8 to 16 years was conducted. The following radiographic parameters were assessed: (1) femoral floor angle, (2) tibial roof angle, (3) width at femoral physis, and (4) femoral notch-intercondylar distance. RESULTS: All observed radiographic parameters were normally distributed with a mean age of 12.4 years (standard deviation [SD] 2, 95% confidence interval [CI] 12.2-12.6). Mean femoral floor angle was 142° (SD 6, CI 141.8-142.9), mean tibial roof angle was 144° (SD 5, CI 143.7-144.1), mean width at femoral physis was 73 mm (SD 6, CI 72.8-73.9), and mean femoral notch-intercondylar distance was 8 mm (SD 1, CI 7.5-7.7). The estimated intraclass correlation coefficient values were excellent for all measurements. CONCLUSION: This study provides new radiographic reference values of the central knee anatomy for children between 8 and 16 years and we suggest considering values within the range of 2 SD as the physiological range.


Asunto(s)
Articulación de la Rodilla , Extremidad Inferior , Niño , Humanos , Adolescente , Valores de Referencia , Estudios Retrospectivos , Articulación de la Rodilla/diagnóstico por imagen , Tibia/diagnóstico por imagen , Tibia/cirugía , Fémur/diagnóstico por imagen , Fémur/cirugía
8.
J Clin Endocrinol Metab ; 108(11): 2840-2851, 2023 10 18.
Artículo en Inglés | MEDLINE | ID: mdl-37235798

RESUMEN

CONTEXT: Zoledronate appears to reduce fracture rates in children with cerebral palsy (CP), but no previous randomized, controlled trial has been performed to compare the effect of zoledronate to placebo in children with CP. OBJECTIVE: To investigate the effect of zoledronate on bone mineral density (BMD) Z-scores in children with nonambulant CP in a randomized, controlled, double-blind trial. METHODS: Nonambulant children with CP (5 to 16 years of age) were randomized 1:1 to receive 2 doses of zoledronate or placebo at a 6-month interval. BMD Z-score changes at the lumbar spine and the lateral distal femur (LDF) were calculated from dual-energy x-ray absorptiometry scans. Monitoring included weight, bone age, pubertal staging, knee-heel length, adverse events, biochemical markers, and questionnaires. RESULTS: Twenty-four participants were randomized and all completed the study. Fourteen were assigned to zoledronate. The mean lumbar spine BMD Z-score increased 0.8 SD (95% CI: 0.4; 1.2) in the zoledronate group, which was significant when compared to 0.0 SD (95% CI: -0.3; 0.3) in the placebo group. Similarly, the LDF BMD Z-scores increased more in the zoledronate group. Severe acute phase symptoms affected 50% of the patients in the zoledronate group but were reported exclusively after the first dose. Growth parameters were similar in both groups. CONCLUSION: Zoledronate for 12 months increased BMD Z-scores significantly without affecting growth, but first-dose side effects were common and considerable. Studies into lower first doses and long-term outcomes are needed.


Asunto(s)
Conservadores de la Densidad Ósea , Parálisis Cerebral , Humanos , Niño , Ácido Zoledrónico/uso terapéutico , Densidad Ósea , Difosfonatos/uso terapéutico , Conservadores de la Densidad Ósea/efectos adversos , Parálisis Cerebral/tratamiento farmacológico , Imidazoles/efectos adversos , Vértebras Lumbares/diagnóstico por imagen
9.
Acta Paediatr ; 112(4): 617-629, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36644940

RESUMEN

AIM: We aimed to improve bone health management of children with cerebral palsy (CP) by reviewing studies investigating bisphosphonate therapy in children with CP and other types of secondary osteoporosis. METHODS: We included trials on bisphosphonate treatment reporting any direct bone measurement or fracture outcome. All studies of patients with CP were included. We also included all controlled trials of children with secondary bone fragility as well as observational studies with ≥20 participants or at least 3 years of follow-up. Studies were assessed according to PRISMA guidelines using the RoB2-tool and the Newcastle-Ottawa Scale. RESULTS: We reviewed 1104 studies and found 37 eligible. Some studies were sufficiently homogeneous to include in a meta-analysis, and we found a 1-year effect on lumbar spine bone mineral density (BMD) Z-score of +0.65 after oral and + 1.21 after intravenous bisphosphonates in children with secondary osteoporosis. Further, data on adverse events and post-treatment follow-up were reviewed. Limitations were heterogeneity and small size of the included studies. CONCLUSION: Meta-analysis consistently showed significant BMD increases with bisphosphonates in children with secondary osteoporosis. Direct evidence of the effect of bisphosphonates on reducing fractures is lacking. We found no reports of long-term adverse events yet longer studies are needed.


Asunto(s)
Conservadores de la Densidad Ósea , Parálisis Cerebral , Fracturas Óseas , Osteoporosis , Niño , Humanos , Densidad Ósea , Parálisis Cerebral/complicaciones , Difosfonatos/efectos adversos , Osteoporosis/inducido químicamente , Osteoporosis/complicaciones
10.
Clin Epidemiol ; 14: 1405-1414, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36444291

RESUMEN

Background: In children with cerebral palsy (CP), fracture rates have been reported to be higher than in the general population but age-specific fracture rates have not been directly compared and the effect of comorbid epilepsy needs elucidation. This impairs decision-making regarding bone health interventions. Aim: We aimed to establish the age-specific fracture rates in children with CP with and without epilepsy in Denmark. Materials and Methods: Data from Danish registers were combined to establish cohorts of children with and without CP born in Denmark from 1997 to 2007. Fracture rates were calculated for 1997-2016. Results: We identified 1,451 children with CP and 787,159 without CP. Female/male fracture rates per 1,000 person-years were 23/27 with CP and 23/29 without CP. Male sex, epilepsy and anti-seizure medication, but not the diagnosis of CP or GMFCS-level, were associated with higher fracture rates. Relatively more lower extremity fractures occurred in non-ambulant children with CP. Interpretation/Conclusion: We found no increased fracture rates in children with CP when compared to peers; however, fracture locations suggested bone fragility in non-ambulant children. All children with epilepsy and on anti-seizure medication had increased fracture rates. We suggest bone health optimization in these groups.

11.
Ugeskr Laeger ; 184(40)2022 10 03.
Artículo en Danés | MEDLINE | ID: mdl-36205151

RESUMEN

Congenital talipes equinovarus or clubfoot is a common birth defect which affects the foot and ankle. In most cases, the underlying cause is unknown. The Ponseti method has become the gold standard of treatment for clubfoot. It is a non-invasive technique using series of plaster casts and orthoses. Complementary Achilles tenotomy is usually necessary. However, surgery is generally salvaged for more severe, rigid cases of clubfoot, including syndromic clubfeet arisen in neurological and neuromuscular disorders, which is summarized in this review.


Asunto(s)
Tendón Calcáneo , Pie Equinovaro , Tendón Calcáneo/cirugía , Moldes Quirúrgicos , Niño , Pie Equinovaro/cirugía , Humanos , Lactante , Aparatos Ortopédicos , Tenotomía/métodos , Resultado del Tratamiento
12.
Children (Basel) ; 9(9)2022 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-36138654

RESUMEN

The pubo-femoral distance (PFD) has been suggested as an ultrasound screening tool for developmental dysplasia of the hip (DDH). The aim of this study was to examine if midwives undergoing minimal training could reliably perform pediatric hip ultrasound and PFD measurements. Eight recruited midwives performed two rounds of independent blinded PFD measurements on 15 static ultrasound images and participated in four supervised live-scanning sessions. The midwives were compared to a group of three experienced musculoskeletal radiologists. Reliability was evaluated using inter-rater correlation coefficients (ICC). Linear regression was used to quantify the learning curve of the midwives as a group. There was near complete intra- and inter-rater agreement (ICC > 0.89) on static ultrasound images across both rounds of rating for midwives and radiologists. The midwives performed a mean of 29 live hip scans (range 24−35). The mean difference between midwives and supervising radiologists was 0.36 mm, 95% CI (0.12−0.61) for the first session, which decreased to 0.20 mm, 95% CI (0.04−0.37) in the fourth session. ICC for PFD measurements increased from 0.59 mm, 95% CI (0.37−0.75) to 0.78 mm, 95% CI (0.66−0.86) with progression in sessions. We conclude that midwives reliably perform PFD measurements of pediatric hips with minimal training.

13.
J Orthop Res ; 40(5): 1075-1082, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34324215

RESUMEN

Our novel plate design has been developed for controlled rotation of long bones by guided growth. The objective of this proof-of-concept study was to evaluate the precision of the rotation in the femur. Twelve cadaverous femora of six adults (right = 6, left = 6) underwent an osteotomy at the level of the physeal scar. The plates were inserted on each side of the distal femur. Growth was simulated by axial distraction of the bone segments. The femur was stabilized using a unilateral external fixator. Femoral torsion was assessed with computed tomography (CT) and with an electric goniometer before and after distraction. The obtained rotation was compared to the predicted rotation based on the dimension of the plate and the bone. All femora were rotated as intended. The mean obtained rotation was 26.3° (95% confidence interval [CI]: 23.5-29.0) and the mean predicted rotation was 28.2° (95% CI: 26.9-29.5) (p > 0.82). The mean axial distraction was 19.5 mm (95% CI: 17.7-21.3). The predicted rotation of the femora was similar to the obtained values on CT and by goniometer. The obtained rotation occurred as a result of an axial distraction of approximately 2 cm. This suggests a potential for controlled rotation of the femur based on the circumference of the bone and plate dimensions that occurs simultaneously with axial distraction. Clinical significance: These findings suggest a possible clinical application in the treatment of maltorsion in children by guided growth, where theplate design guides the bone into torsional axial growth correcting the deformity.


Asunto(s)
Placas Óseas , Fémur , Adulto , Cadáver , Niño , Fémur/diagnóstico por imagen , Fémur/cirugía , Humanos , Osteotomía/métodos , Prueba de Estudio Conceptual
14.
Disabil Rehabil ; 44(16): 4485-4492, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-33955308

RESUMEN

PURPOSE: To translate and cross-culturally adapt the Challenge, and investigate the reliability and minimal detectable change (MDC) of the Danish Challenge in children with cerebral palsy (CP). MATERIALS AND METHODS: A Danish version of the Challenge was created through a standardized translation process. Four physiotherapists evaluated face validity. Independently ambulatory children with CP were tested. Live performance rating was conducted by assessors independently scoring the Challenge. Video-rating was undertaken for a subset of assessments. Same day assessment test-retest reliability was estimated. The Challenge's Best Score Total was of primary interest. RESULTS: Forty-five children (5-18 years: mean 10 years 9 months; 19 girls) in Gross Motor Function Classification System levels I and II were tested. Inter-rater reliability was excellent for live assessments (n = 45) ICC = 0.998 (95% CI 0.998-0.999) and video assessments (n = 15) ICC = 0.991 (95% CI 0.963-0.997) and intra-rater reliability was excellent for live versus video-recorded assessments (n = 10) ICC = 0.977 (95% CI 0.895-0.994). Test-retest reliability (n = 22) was excellent with ICC = 0.991 (95% CI 0.979-0.996) and minimal detectable change (MDC90) of 4.7 points. CONCLUSIONS: The Danish Challenge showed excellent reliability in this testing context when physiotherapists scored from live- or video-recorded assessments. The Challenge's ability to detect 4.7 points change seems a clinically realistic target for progress. Clinical trial registration: This trial has been approved by the Data Protection Agency, Central Region Denmark, Ref nr.: 615216, Case nr.: 1-16-02-46-16. Registration date: 01-01-2016.Implications for rehabilitationThe Challenge remained reliable and maintained a promising minimal detectable change of less than five points after translation and cultural adaptation.The Danish version of the Challenge 20-item version can be used to measure advanced motor skill performance in children with cerebral palsy, GMFCS level I and GMFCS level II.Challenge live scoring is as reliable as the more time-consuming video-recorded scoring, meaning that physiotherapists can choose the method that fits best with their clinical context and preference.


Asunto(s)
Parálisis Cerebral , Niño , Dinamarca , Evaluación de la Discapacidad , Femenino , Humanos , Destreza Motora , Reproducibilidad de los Resultados , Traducciones
15.
Iowa Orthop J ; 41(2): 6-11, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34924864

RESUMEN

Background: Patient Reported Outcome Measures (PROM) after resection of tarsal coalitions are sparse. This cross-sectional study evaluates the outcome after resection of tarsal coalitions in children using the validated Oxford Foot and Ankle Questionnaire (OxAFQ). Methods: Tarsal coalition patients between 5-16 years of age from Aarhus University Hospital (Denmark) and The Royal London Hospital (United Kingdom) were included. The patients were identified using patient and theatre register. All patients and proxies filled in the PROM: OxAFQ-C and OxAFQ-proxy respectively. The scores were calculated within each domain and reported as means (95% confidence intervals). Talocalcaneal coalitions were compared to calcaneonavicular coalition with regard to OxAFQ score and re-operation rate. Results: 27 patients and their proxies returned 54 questionnaires in total regarding 36 feet. Mean time from surgery to filling of the questionnaire was 25 (21-30) months. The relative mean OxAFQ score was higher in the School and Play and Emotional domain than the Physical domain, p = 0.007. The OxAFQ scores and re-operation rates were similar for both coalitions, p=0.63. Conclusion: The OxAFQ PROM showed more encouraging results in playing or emotional health status than the physical health status. The outcome for both types of coalitions is similar.Level of Evidence: IV.


Asunto(s)
Huesos Tarsianos , Coalición Tarsiana , Tobillo , Niño , Estudios Transversales , Estudios de Seguimiento , Humanos , Medición de Resultados Informados por el Paciente , Encuestas y Cuestionarios , Huesos Tarsianos/diagnóstico por imagen , Huesos Tarsianos/cirugía , Coalición Tarsiana/cirugía
17.
Eur J Med Genet ; 64(12): 104342, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34537402

RESUMEN

BACKGROUND: Proteoglycans (PGs) are complex macromolecules consisting of a core protein and glycosaminoglycan (GAG) side chains. PGs are important for the constitution and functioning of the connective tissue. The normal composition of the GAG side chains defines the nature of the PGs and a wide range of biological events. Deficiencies of specific enzymes involved in the linkage of GAGs to the core protein to form functional PGs, lead to a heterogeneous disease group called Linkeropathies. This is a group of multisystem conditions characterized by different phenotypes that include skeletal dysplasia and various extra-skeletal features: developmental delay/intellectual disability, ophthalmological abnormalities including blue sclerae, facial characteristics, cardiac defects, abdominal wall defects (hernias), cutis laxa, hypermobility and hypotonia. The conditions show variable severity and often overlapping phenotypes. The enzyme ß-1,3-glucuronyltransferase 3, encoded by B3GAT3, is involved in the linkage process to form functional PGs. Biallelic pathogenic variants in B3GAT3 hence lead to Linkeropathy due to loss of function or decreased activity of this enzyme. PATIENT PRESENTATION: We describe a 22-year-old female patient, born of consanguineous parents. The disease history includes congenital severe joint malalignment of elbows, hips, knees and feet, hypermobility, severe kyphoscoliosis, osteoporosis with multiple fractures in childhood, congenital diaphragmatic hernia, minor dental anomalies, digital malformations, and characteristic facial features. Whole exome sequencing was performed, and homozygosity for a novel in-frame deletion in B3GAT3, (c.61_63delCTC (p.(Leu21del))) was detected. Both unaffected parents (double second cousins) were shown to be heterozygous carriers. CONCLUSION: This is the first report to describe homozygosity for this specific in-frame deletion in B3GAT3 (p.(Leu21del)). We present a young adult phenotype and a summary of previous reported patients with other biallelic B3GAT3-variants for comparison. Previously described patients of B3GAT3-deficiency were, however, all children with phenotypes ranging from prenatal manifestation and early lethality to less severe. We suggest that this novel homozygous in-frame deletion in B3GAT3 may be the cause of a recessive form of Linkeropathy.


Asunto(s)
Anomalías del Ojo/genética , Predisposición Genética a la Enfermedad/genética , Glucuronosiltransferasa/genética , Osteocondrodisplasias/genética , Eliminación de Secuencia/genética , Adulto , Femenino , Homocigoto , Humanos , Fenotipo , Adulto Joven
18.
Artículo en Inglés | MEDLINE | ID: mdl-34326896

RESUMEN

MATERIALS AND METHODS: The study was carried out using an experimental porcine model. Eleven juvenile female porcines were randomized for insertion of a retrograde femoral nail in one limb. The other limb acted as a control. The animals were housed for 8 weeks before the nail was removed and housed for 8 additional weeks, that is, 16 weeks in total. Growth was assessed by interphyseal distance on 3D magnetic resonance imaging (MRI) after 16 weeks and the operated limb was compared to the non-operated limb. Histomorphometric analysis of the physeal canal was performed. RESULTS: No difference in longitudinal growth was observed when comparing the operated femur to the non-operated femur using MRI after 16 weeks. No osseous tissue crossing the physis was observed on MRI or histology. The empty canal in the physis after nail removal was filled with fibrous tissue 16 weeks after primary surgery. CONCLUSION: Growth was not impaired and no bone bridges were seen on MRI or histology 16 weeks after insertion and later removal of the retrograde femoral nail. CLINICAL SIGNIFICANCE: The insertion of a retrograde intramedullary femoral nail centrally through the physis and later removal might be safe, however, long-term follow-up is needed. AIM AND OBJECTIVE: The insertion of an intramedullary nail may be beneficial in certain cases of leg length discrepancy (LLD) in children. However, it is unknown if the physeal injury due to the surgery may cause bone bridge formation and thereby growth arrest after removal. This study aimed to assess longitudinal interphyseal growth 16 weeks after insertion and later removal of a retrograde femoral nail passing through the physis. Moreover, to analyse the tissue forming in the empty physeal canal after removal of the nail. HOW TO CITE THIS ARTICLE: Abood AA, Rahbek O, Olesen ML, et al. Does Retrograde Femoral Nailing through a Normal Physis Impair Growth? An Experimental Porcine Model. Strategies Trauma Limb Reconstr 2021;16(1):8-13.

19.
Ugeskr Laeger ; 183(21)2021 05 24.
Artículo en Danés | MEDLINE | ID: mdl-34060467

RESUMEN

Femoral fractures in children are not common injuries, and the treating physicians should master non-operative and operative treatment options. Non-accidental injury is frequently seen in children below two years of age. In this review, we describe a range of techniques for treatment of the injuries, and the current treatment trends and matters of discussion are early spica casting, age and weight guidance for use of flexible and rigid intramedullary nails. We advocate early consultation with a tertiary care centre for guidance and planning of the best treatment modality.


Asunto(s)
Fracturas del Fémur , Niño , Fracturas del Fémur/diagnóstico por imagen , Fracturas del Fémur/cirugía , Humanos , Resultado del Tratamiento
20.
Ugeskr Laeger ; 183(12)2021 03 22.
Artículo en Danés | MEDLINE | ID: mdl-33829997

RESUMEN

The screening programme for developmental dysplasia of the hip (DDH) in Denmark is based on clinical examination and selective ultrasound examination of children with established risk factors for DDH. This method of screening may not reduce the proportion of lately diagnosed cases. Universal screening for DDH is cost-efficient and may eliminate late diagnosis of DDH and minimise the need for corrective surgery. In this review, we propose developing a new universal screening programme for DDH in Denmark.


Asunto(s)
Luxación Congénita de la Cadera , Niño , Dinamarca/epidemiología , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/epidemiología , Humanos , Lactante , Recién Nacido , Tamizaje Masivo , Tamizaje Neonatal , Examen Físico , Ultrasonografía
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