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1.
J Pediatr Orthop ; 2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38835293

RESUMEN

BACKGROUND: While physical activity (PA) is important during youth, it is unclear if children and adolescents with developmental dysplasia of the hip (DDH), Legg-Calvé-Perthes disease (LCPD), or slipped capital femoral epiphysis (SCFE) are expected or encouraged to return to PA once they have healed. This study examines the orthopaedic surgeons' role in advising pediatric hip patients on the PA they should engage in, assessing their practice, opinions, and consensus when making recommendations. METHODS: Orthopaedic surgeons were invited from member lists of 4 hip study groups. The survey included demographics, opinions regarding PA, and 10 case scenarios that queried respondents on the duration and intensity of PA as well as the restrictions on activity type that they would recommend for DDH, LCPD, or SCFE patients. Consensus was evaluated on a scale ranging from 0 to 1, with a value of 0 indicating no agreement among respondents and a value of 1 indicating complete agreement. RESULTS: A total of 51 orthopaedic surgeons responded. While 94% agreed that it is important for school-aged hip patients to return to PA after they have healed, 53% believed that PA may compromise the hip and contribute to the development of osteoarthritis. Average standardized consensus was 0.92 for suggesting the patient engage in some amount of PA, 0.44 for suggesting the recommended daily minimum of 60 minutes of moderate-to-vigorous physical activity (MVPA), and 0.33 for suggesting restrictions on activity type. The most frequently selected restrictions included avoiding impact activities (93%, 235/254) and contact activities (58%, 147/254), followed by weight-bearing activities (24%, 62/254). Respondents were not aware of existing PA guidelines, although 57% expressed interest in following guidelines and 39% were uncertain. CONCLUSIONS: While there is consensus among orthopaedic surgeons that children with chronic hip conditions should engage in PA, there is considerable variation when recommending the recommended daily MVPA minimum and placing restrictions on activity type. This study suggests interest among orthopaedic surgeons in developing PA guidelines that optimize outcomes for pediatric hip patients. LEVEL OF EVIDENCE: Level II-Survey study.

2.
Int J Radiat Oncol Biol Phys ; 118(5): 1497-1506, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38220069

RESUMEN

PURPOSE: The optimal sequencing of local and systemic therapy for oligometastatic cancer has not been established. This study retrospectively compared progression-free survival (PFS), overall survival (OS), and SABR-related toxicity between upfront versus delay of systemic treatment until progression in patients in the SABR-5 trial. METHODS AND MATERIALS: The single-arm phase 2 SABR-5 trial accrued patients with up to 5 oligometastases across SABR-5 between November 2016 and July 2020. Patients received SABR to all lesions. Two cohorts were retrospectively identified: those receiving upfront systemic treatment along with SABR and those for whom systemic treatment was delayed until disease progression. Patients treated for oligoprogression were excluded. Propensity score analysis with overlap weighting balanced baseline characteristics of cohorts. Bootstrap sampling and Cox regression models estimated the association of delayed systemic treatment with PFS, OS, and grade ≥2 toxicity. RESULTS: A total of 319 patients with oligometastases underwent treatment on SABR-5, including 121 (38%) and 198 (62%) who received upfront and delayed systemic treatment, respectively. In the weighted sample, prostate cancer was the most common primary tumor histology (48%) followed by colorectal (18%), breast (13%), and lung (4%). Most patients (93%) were treated for 1 to 2 metastases. The median follow-up time was 34 months (IQR, 24-45). Delayed systemic treatment was associated with shorter PFS (hazard ratio [HR], 1.56; 95% CI, 1.15-2.13; P = .005) but similar OS (HR, 0.90; 95% CI, 0.51-1.59; P = .65) compared with upfront systemic treatment. Risk of grade 2 or higher SABR-related toxicity was reduced with delayed systemic treatment (odds ratio, 0.35; 95% CI, 0.15-0.70; P < .001). CONCLUSIONS: Delayed systemic treatment is associated with shorter PFS without reduction in OS and with reduced SABR-related toxicity and may be a favorable option for select patients seeking to avoid initial systemic treatment. Efforts should continue to accrue patients to histology-specific trials examining a delayed systemic treatment approach.


Asunto(s)
Neoplasias de la Próstata , Radiocirugia , Masculino , Humanos , Estudios Retrospectivos , Neoplasias de la Próstata/patología , Supervivencia sin Progresión , Radiocirugia/métodos
3.
J Pediatr Orthop ; 43(9): e701-e706, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-37493022

RESUMEN

BACKGROUND: Hip displacement is common in children with cerebral palsy (CP). Spasticity in the hip adductor muscles, hip flexors, and medial hamstrings has been identified as a possible cause of progressive hip displacement. Selective dorsal rhizotomy (SDR) aims to reduce lower extremity spasticity in children with CP. Here, we investigate the influence of SDR on hip displacement in children with CP at long-term follow-up, a minimum of 5 years post-SDR. METHODS: A retrospective review of children undergoing SDR at a Canadian pediatric hospital was completed. Migration percentage (MP) was measured on pelvis radiographs taken in the 6 months before SDR and minimum 5 years post-SDR or before hip surgery. The number of hips with displacement, defined as MP >30%, and the number of children with at least 1 hip displaced were determined. A linear mixed-effects model was used to assess potential risk factors for poor outcome post-SDR, defined as having MP >40% or surgical intervention for hip displacement. RESULTS: Ninety children [50 males, 40 females, Gross Motor Function Classification System (GMFCS) levels I to V: 1/13/24/43/9] with a mean follow-up of 8.5 years (SD 5.1) were included. The mean age at SDR was 4.9 years (SD 1.5); more than half of children (52%) had hip displacement at the time of SDR. Post-SDR, MP exceeded 30% in 0 (0%) of children at GMFCS level I, 1 (8%) at II, 11 (46%) at III, 31 (72%) at IV, and 7 (78%) at V. A poor outcome was associated with preoperative MP, age, and GMFCS level. CONCLUSIONS: The incidence of hip displacement post-SDR was consistent with population-based studies when evaluated by GMFCS. Our findings suggest that SDR has neither a positive nor negative effect on hip displacement when assessed at least 5 years postintervention. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Parálisis Cerebral , Luxación de la Cadera , Masculino , Femenino , Niño , Humanos , Preescolar , Luxación de la Cadera/etiología , Luxación de la Cadera/cirugía , Luxación de la Cadera/epidemiología , Parálisis Cerebral/complicaciones , Parálisis Cerebral/cirugía , Estudios de Seguimiento , Rizotomía/efectos adversos , Canadá , Espasticidad Muscular/complicaciones , Resultado del Tratamiento
4.
J Child Orthop ; 16(5): 325-332, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36238143

RESUMEN

Purpose: This study explored whether surgeons favor unilateral or bilateral reconstructive hip surgery in children with cerebral palsy who have unilateral hip displacement. Methods: An invitation to participate in an anonymous, online survey was sent to 44 pediatric orthopedic surgeons. The case of an 8 year old at Gross Motor Function Classification System level IV with migration percentages of 76% and 22% was described. Surgeons selected their surgical treatment of choice and provided their rationale. Respondents were also asked to list and rank radiographic parameters used for decision-making and multidisciplinary team members involved in decision-making. Results: Twenty-eight orthopedic surgeons from nine countries with a mean 21.3 years (range, 5-40 years) of experience completed the survey. A "bilateral VDROs with a right pelvic osteotomy (PO) was selected by 68% (19/28) of respondents; risk of contralateral subluxation (9/19; 47%) and maintaining symmetry (7/19; 37%) were the most common rationales for bilateral surgery. The remaining 32% (9/28) chose a 'right VDRO with a right PO'" with most of these (8/9; 89%) stating the left hip was sufficiently covered. Of 31 radiographic parameters identified, migration percentage, acetabular angle/index, Shenton line, neck shaft angle, and presence of open/closed triradiate growth plates were the most common. Physical therapists (68%) and physiatrists (43%) were most likely to be involved in pre-operative surgical consultation. Conclusion: There is a lack of agreement on management of the contralateral hip in children with unilateral hip displacement. Further studies comparing patient important outcomes following unilateral and bilateral surgery are required. Level of Evidence: V.

5.
Artículo en Inglés | MEDLINE | ID: mdl-36136937

RESUMEN

Risk of hip displacement in children with cerebral palsy is directly related to a child's level of motor function as classified by the Gross Motor Function Classification System (GMFCS) and is reported to be greatest at a young age. In this study, we present a series of four children with asymmetric diplegic cerebral palsy at GMFCS levels II and III, with the more involved hip showing rapid, progressive displacement at a later age. Current hip surveillance guidelines may not adequately identify hip displacement in children with asymmetric diplegia and pelvic obliquity; modifications to surveillance guidelines may be warranted. Additional investigation of hip displacement in this subset of children is required to determine whether the incidence of displacement is higher than anticipated based on the GMFCS level alone.


Asunto(s)
Parálisis Cerebral , Luxación de la Cadera , Parálisis Cerebral/diagnóstico por imagen , Parálisis Cerebral/epidemiología , Niño , Luxación de la Cadera/diagnóstico por imagen , Humanos , Incidencia , Radiografía
6.
J Pediatr Orthop ; 42(7): e742-e746, 2022 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-35550421

RESUMEN

BACKGROUND: Measurement of migration percentage (MP) is fundamental to successful hip surveillance for children with cerebral palsy (CP). In British Columbia, Canada, children enrolled in the province's hip surveillance program get radiographs at the province's tertiary care pediatric hospital or their local community hospital. This study aimed to review the radiology reporting of images completed as part of hip surveillance. METHODS: Pelvis radiographs completed between September 2015 and December 2019 of 960 children enrolled in the province's hip surveillance program were included. MP values measured by the program coordinator and corresponding value measured by the facility's radiologist, when present, were retrieved. Agreement in MP between the program coordinator and the radiologist was measured using Bland-Altman plots and intraclass correlation coefficients. Radiology reports for images completed at community facilities that prompted a referral to a pediatric orthopaedic surgeon, when reviewed by the hip surveillance team, were further reviewed for qualitative comments. RESULTS: In total, 1849 radiographs were reviewed with 69.3% (1282) completed at the pediatric hospital and 30.7% (567) at 64 different hospitals or clinics. MP was reported for 20.6% (264/1282) of radiographs completed at the pediatric hospital and 3.0% (17/567) of the radiographs completed at community hospitals. Bland-Altman plot analyses found a MP mean difference of 1.2% (95% confidence interval=0.6%-1.8%) between the program coordinator and all radiologist reports with an intraclass correlation coefficient of 0.88 (95% confidence interval=0.86-0.90). There were 47 radiographs completed at community hospitals that resulted in a referral to a pediatric orthopaedic surgeon after review by the hip surveillance team. Eleven of these reports stated normal or unremarkable findings. CONCLUSIONS: Radiologic reporting of images completed for hip surveillance for children with CP was inadequate to allow for the detection of hip displacement. Reporting of MP was rare, particularly in community hospitals. If radiology reporting will be utilized for hip surveillance in children with CP, education of radiologists is required.


Asunto(s)
Parálisis Cerebral , Luxación de la Cadera , Ortopedia , Radiología , Parálisis Cerebral/diagnóstico por imagen , Niño , Luxación de la Cadera/diagnóstico por imagen , Humanos , Ortopedia/métodos , Radiografía
7.
Dev Med Child Neurol ; 64(7): 890-896, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35213730

RESUMEN

AIM: To investigate the diagnosis at enrollment in the Child Health British Columbia Hip Surveillance Program for Children with Cerebral Palsy (CP) and review the etiologies of children enrolled without a CP diagnosis. METHOD: Data from 959 children (543 males, 416 females; mean [SD] age at enrollment 6 years 8 months [4 years 2 months]) enrolled in the program between September 2015 and December 2019 were retrospectively reviewed. Enrollment diagnosis, Gross Motor Function Classification System level, migration percentage, and age at enrollment were included. Chart reviews were completed to confirm diagnoses for all children. Etiologies were compared to a list of conditions that are included and excluded from CP registries. RESULTS: Diagnosis at enrollment was CP for 612 (64%), possible CP for 120 (13%), and 'other' for 220 (23%). No diagnosis was provided for seven (<1%). CP was confirmed for 700 (73%), including 106 (11.1%) enrolled as 'possible CP' or 'other'; 56 (5.8%) did not have CP due to progressive conditions. Migration percentage was similar across all groups at enrollment. INTERPRETATION: One in four children were enrolled in hip surveillance without a diagnosis of CP or possible CP. Encouraging participation in hip surveillance when children meet the clinical criteria for CP but do not have a confirmed CP diagnosis can improve access to care.


Asunto(s)
Parálisis Cerebral , Luxación de la Cadera , Colombia Británica/epidemiología , Parálisis Cerebral/diagnóstico , Parálisis Cerebral/epidemiología , Niño , Femenino , Luxación de la Cadera/etiología , Humanos , Masculino , Sistema de Registros , Estudios Retrospectivos
8.
Indian J Orthop ; 56(1): 58-65, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35070143

RESUMEN

BACKGROUND: The purpose of this study was to assess Indian orthopaedic surgeons' current practices and beliefs regarding hip surveillance for children with cerebral palsy (CP), to determine potential support for developing hip surveillance guidelines, and to identify knowledge gaps and key obstacles to guideline implementation in India. METHODS: An anonymous, cross-sectional online survey was sent to approximately 350 Paediatric Orthopaedic Society of India (POSI) members who were queried on their practices and beliefs about hip surveillance for children with CP, as well as perceived challenges and requirements for the successful implementation of hip surveillance guidelines in the Indian context. RESULTS: Out of 107 responses obtained from POSI members, almost all (96.2%) agreed that hip displacement requires standardized monitoring, using surveillance and surgery to prevent hip dislocation. Approximately half (51.5%) of respondents reported using existing hip surveillance guidelines, with most (41.2%) using the Australian guidelines. Almost all (97%) surgeons indicated that hip surveillance guidelines in India are needed, with 100% expressing interest in following guidelines specific to India. Respondents most frequently indicated late referrals to orthopaedics (81.2%), loss of patients to follow-up (78.2%), and lack of resources (43.6%) as challenges to successful hip surveillance in India. Perceived requirements for implementation included developing Indian-specific guidelines (83.2%) as well as educating surgeons (56.4%), physiotherapists/pediatricians (90.1%), and families (82.2%). CONCLUSION: Orthopaedic surgeons practicing in India understand the importance of preventing hip dislocations in children with CP through hip surveillance and timely surgical intervention. The results demonstrated strong support for the development of hip surveillance guidelines designed specifically for the Indian healthcare system. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s43465-021-00432-3.

9.
J Pediatr Orthop B ; 31(2): 160-168, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-34723914

RESUMEN

Children with cerebral palsy (CP) often have changes in proximal femoral geometry. Neck-shaft angle (NSA), Hilgenreiner epiphyseal angle (HEA) and head-shaft angle (HSA) are used to measure these changes. The impact of femoral rotation on HEA/HSA and of ab/adduction on HEA/HSA/NSA is not well known. This study aimed to determine and compare the effect of rotation, ab/adduction and flexion/extension on HEA/HSA/NSA. Radiographic measurements from 384 patients with Gross Motor Function Classification System (GMFCS) levels I-V were utilized. NSA/HSA for affected hips were used with femoral anteversion averages to create three-dimensional models of 694 hips in children with CP. Each hip was rotated, ab/adducted and flexed/extended to simulate malpositioning. HEA/HSA/NSA of each model were measured in each joint position, and differences from correct positioning were determined. Mean HEA error at 20° of internal/external rotations were -0.60°/3.17°, respectively, with the NSA error of -6.56°/9.94° and the HSA error of -3.69°/1.21°. Each degree of ab/adduction added 1° of the HEA error, with no NSA/HSA error. NSA was most sensitive to flexion. Error for all measures increased with increasing GMFCS level. HEA/HSA were minimally impacted by rotation. NSA error was much higher than HEA/HSA in internal rotation and flexion whereas HEA was sensitive to changes in ab/adduction. Given abduction is more easily detectable on imaging than rotation, HEA may be less affected by positioning errors that are common with children with CP than NSA. HSA was least affected by position changes. HEA/HSA could be robust, complementary measures of hip deformities in children with CP.


Asunto(s)
Parálisis Cerebral , Luxación de la Cadera , Parálisis Cerebral/diagnóstico por imagen , Niño , Epífisis , Fémur/diagnóstico por imagen , Cuello Femoral/diagnóstico por imagen , Humanos
10.
Cancers (Basel) ; 15(1)2022 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-36612271

RESUMEN

BACKGROUND: In locally advanced rectal cancer treatment, neoadjuvant concurrent chemoradiation therapy (cCRT) is the standard of care. The tumor microenvironment (TME) is a complex entity comprising of tumor cells, immune cells and surrounding stroma and is closely associated with tumor growth and survival, response to antitumor therapies and also resistance to treatment. We aimed to assess the change in biomarkers associated with TME following standard neoadjuvant cCRT in rectal cancer. METHODS: We accessed archival tissue from rectal cancer patients treated with neoadjuvant cCRT at Allegheny Health Network (AHN) facilities over the past 14 years. Pre-treatment and post-treatment biopsies were assayed for PD-L1, CD8+ T-cells, CXCL9, TIM-3, IDO-1, IFN-G, IL17RE, LAG-3, and OX40 in 41 patients. RESULTS: We found statistically significant upregulation in multiple biomarkers namely CD8, IL17RE, LAG3 and OX40 post neoadjuvant cCRT and a trend towards upregulation, although not statistically significant, in biomarkers PD-L1, CXCL9, TIM-3, IDO-1 and IFN-G expression. CONCLUSIONS: This provides a glimpse into the TME before and after neoadjuvant cCRT. We suggest that the biomarkers noted to be upregulated could be used for designing appropriate clinical trials and development of therapeutic targeted drug therapy in an effort to achieve better response to neoadjuvant therapy, increasing clinical and pathological complete response rates and improved overall outcomes.

11.
J Pediatr Orthop ; 41(7): e563-e569, 2021 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-33999564

RESUMEN

BACKGROUND: Despite being a common procedure, there are no standard protocols for postoperative immobilization and rehabilitation following reconstructive hip surgery in children with cerebral palsy (CP). The purpose of this study was to investigate variability in postoperative management and physical therapy (PT) recommendations among orthopaedic surgeons treating hip displacement in children with CP. METHODS: An invitation to participate in an anonymous, online survey was sent to 44 pediatric orthopaedic surgeons. The case of a child undergoing bilateral femoral varus derotation osteotomies and adductor tenotomies was presented. Surgeons were asked to consider their typical practice and the case scenario when answering questions related to immobilization, weight-bearing, and rehabilitation. Recommendations with increasingly complex surgical interventions and different age or level of motor function were also assessed. RESULTS: Twenty-eight orthopaedic surgeons from 9 countries with a mean 21.3 years (range: 5 to 40 y) of experience completed the survey. Postoperative immobilization was recommended by 86% (24/28) of respondents with 7 different methods of immobilization identified. All but 1 (23/24) reported immobilizing full time. Most (20/23) reported using immobilization for 4 to 6 weeks. Return to weight-bearing varied from 0 to 6 weeks for partial weight-bearing and 0 to 12 weeks for full weight-bearing. PT in the first 1 to 2 weeks postoperatively was reported as unnecessary by 29% (8/28) of surgeons. PT for range of motion, strengthening, and return to function was recommended by 96% (27/28) of surgeons, starting at a mean of 2.6 weeks postoperatively (range: 0 to 16 wk). Only 48% (13/27) reported all of their patients would receive PT for these goals in their practice setting. Inpatient rehabilitation was available for 75% (21/28) but most surgeons (17/21) reported this was accessed by 20% or fewer of their patients. CONCLUSIONS: Postoperative immobilization and PT recommendations were highly variable among surgeons. This variability may influence surgical outcomes and complication rates and should be considered when evaluating procedures. Further study into the impact of postoperative immobilization and rehabilitation is warranted.

12.
J Pediatr Orthop ; 41(1): 6-10, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32558745

RESUMEN

BACKGROUND: Progressive hip displacement in children with cerebral palsy (CP) is monitored by measuring migration percentage (MP) on anteroposterior (AP) pelvis radiographs. Accurate measurement of MP requires the lateral margin of the ossified acetabulum to be identified for the placement of Perkin's line. It has been suggested that when there is an erosion of the acetabular rim, described as a gothic arch, the midpoint of the arch be used for the placement of Perkin's line. However, this requires that there be agreement on what constitutes a gothic arch. The purpose of this study was to evaluate the inter-rater and intrarater reliabilities of identifying a gothic arch on pelvis radiographs. METHODS: An online survey with 100 AP pelvis images (200 hips) of children with CP was sent to international experts. Participants were asked to identify which hip(s) had a gothic arch (left, right, both, and neither). The Fleiss κ statistic for inter-rater reliability was calculated. Eight weeks later, the images were shuffled and redistributed to calculate intrarater reliability. RESULTS: The initial survey was completed by 10 participants with 9 participants completing the second survey. The average inter-rater κ value was 0.18 [95% confidence interval (CI), 0.14-0.23] and 0.19 (95% CI, 0.14-0.24) for the 2 surveys, respectively. Among the pediatric orthopaedic surgeons subgroup, the κ values were 0.06 (95% CI, 0.02-0.1) and 0.08 (95% CI, 0.03-0.13). The average intrarater reliability κ value was 0.61 (95% CI, 0.2-1), ranging from 0.32 to 0.86. CONCLUSIONS: There were poor inter-rater and moderate intrarater reliabilities in identifying a gothic arch on AP pelvis radiographs in children with CP. Further characterization and clarification of what constitutes a gothic arch are required. The lack of agreement on the identification of a gothic arch may negatively impact the measurement of MP and referrals to a pediatric orthopaedic surgeon.


Asunto(s)
Acetábulo , Parálisis Cerebral/complicaciones , Luxación de la Cadera , Radiografía/métodos , Acetábulo/diagnóstico por imagen , Acetábulo/patología , Niño , Precisión de la Medición Dimensional , Femenino , Luxación de la Cadera/diagnóstico por imagen , Luxación de la Cadera/etiología , Humanos , Masculino , Ortopedia/métodos , Ortopedia/normas , Huesos Pélvicos/diagnóstico por imagen , Reproducibilidad de los Resultados
14.
Phys Occup Ther Pediatr ; 41(3): 300-313, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33280455

RESUMEN

AIMS: Physical and occupational therapists play a key role in the implementation of hip surveillance for children with cerebral palsy (CP) in British Columbia, Canada. We aimed to develop and assess a knowledge translation strategy to support the implementation of a provincial hip surveillance program. METHODS: Pediatric therapists were invited to participate in an anonymous survey assessing hip surveillance knowledge and learning needs. Based on these results, educational materials were developed. Two years later, one year following the launch of the hip surveillance program, the survey was repeated to assess learning, knowledge use, and barriers to enrollment. RESULTS: The initial survey was completed by 102 therapists; 74 therapists completed the second survey. Multifaceted educational strategies, including web-based learning, in-person education, email notifications, and print materials that targeted knowledge gaps were developed. Upon re-evaluation, knowledge increased on all questions. At follow-up, 45 therapists had enrolled a child, indicating knowledge use. Barriers to enrollment included lack of a CP diagnosis, parents or physicians not agreeing to enrollment, time requirements, and lack of space to complete the clinical exam. CONCLUSIONS: Targeted knowledge translation strategies were successful in meeting the educational requirements of a large group of therapists in a vast geographic area.


Asunto(s)
Parálisis Cerebral , Fisioterapeutas , Niño , Humanos , Terapeutas Ocupacionales , Encuestas y Cuestionarios , Investigación Biomédica Traslacional
15.
Clin J Gastroenterol ; 14(1): 26-31, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33001361

RESUMEN

Esophageal dissecans superficialis (EDS) is a rare disease with endoscopic findings of sloughing squamous tissue with underlying normal mucosa and had no known cause. The literature does support possible causality between the presence of an esophageal stricture and EDS however there has been no association to date between EDS and esophagogastric junction outflow obstruction (EGJOO). We present a case of newly diagnosed EGJOO in a patient with long standing gastroesophageal reflux disease who presented with dysphagia. Evaluation identified endoscopically normal mucosa and a diagnosis of esophagogastric junction outflow obstruction on high resolution impedance manometry. A month later, repeat endoscopy identified diffusely sloughing mucosa consistent with EDS. Endoscopic dilation followed by a robotic Heller myotomy with Dor fundoplication to relive the outflow obstruction resulted in resolution of EDS in this case.


Asunto(s)
Trastornos de la Motilidad Esofágica , Esofagitis , Reflujo Gastroesofágico , Unión Esofagogástrica/cirugía , Humanos , Manometría
16.
Cancer Genet ; 246-247: 12-17, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32805687

RESUMEN

PURPOSE: Although CHEK2 is a well-established cancer gene, questions remain including whether risks vary substantially between different variants and whether biallelic carriers have higher risks than heterozygotes. We report on a cohort of individuals with CHEK2 pathogenic and likely pathogenic variants (collectively, PV) in order to better characterize this gene. METHODS: We retrospectively queried samples submitted for multi-gene hereditary cancer testing to identify individuals with CHEK2 PVs and assessed differences in phenotypes among various genotypes. RESULTS: CHEK2 PVs were identified in 2508 individuals, including 32 individuals with biallelic CHEK2 PVs. Breast (female, 59.9% and male, 11.8%), prostate (20.1%), and colorectal (3.5%), were among the most frequently reported cancers. Select missense PVs showed similar cancer prevalence to truncating PVs while some others showed lower prevalence. No significant differences were observed between biallelic carriers and heterozygotes. CONCLUSIONS: Our data support that some, but not all, CHEK2 missense PVs demonstrate lower cancer prevalence; further studies are needed to continue characterizing possible variant specific risks. In addition, biallelic CHEK2 PVs do not appear to be associated with a more severe phenotype than single CHEK2 PVs. Furthermore, co-occurrences with PVs in other cancer risk genes are common among CHEK2 heterozygotes and often warrant additional management.


Asunto(s)
Biomarcadores de Tumor/genética , Quinasa de Punto de Control 2/genética , Pruebas Genéticas/métodos , Variación Genética , Heterocigoto , Neoplasias/epidemiología , Neoplasias/genética , Femenino , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/patología , Prevalencia , Pronóstico , Estudios Retrospectivos , Estados Unidos/epidemiología
17.
J Pediatr Orthop B ; 29(6): 517-522, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31821270

RESUMEN

Hip displacement is a common orthopedic problem in children with cerebral palsy (CP) that can result in significant morbidity. Hip surveillance has been shown to reduce the incidence of hip dislocations in children with CP and to reduce the need for salvage hip surgeries. Guidelines for hip surveillance have been developed and can be adapted to meet local needs. Implementation of surveillance guidelines for a population of children is complex and highly dependent upon the region, province/state, or country's system of care for children with CP. Recognizing that implementation of the evidence on hip surveillance was necessary in British Columbia, a Canadian province spanning 1 million square kilometers, a comprehensive, coordinated approach to hip surveillance was developed collaboratively by provincial stakeholders. Surveillance guidelines and a desired implementation plan were established based on the best available research evidence, current international practice, and service delivery in British Columbia. Staged implementation preceded full provincial roll out. Implementation was supported by detailed communication, knowledge translation, and evaluation plans. This province-wide hip surveillance program is the first of its kind in North America.


Asunto(s)
Parálisis Cerebral/epidemiología , Consenso , Medicina Basada en la Evidencia/normas , Luxación de la Cadera/epidemiología , Vigilancia de la Población , Colombia Británica/epidemiología , Canadá/epidemiología , Parálisis Cerebral/diagnóstico , Niño , Medicina Basada en la Evidencia/tendencias , Luxación de la Cadera/diagnóstico , Humanos
19.
Curr Probl Diagn Radiol ; 47(5): 353-356, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28684057

RESUMEN

Richter transformation is the development of a high-grade lymphoma from chronic lymphocytic leukemia. This rare disease manifestation is difficult to predict and carries a poor prognosis. We describe the case of a 75-year-old man with refractory chronic lymphocytic leukemia who presented with multiple growing fatty abdominal masses on computed tomography and vague abdominal distension. The patient underwent exploratory laparotomy with mass resection due to the nonspecific imaging findings. A mesenteric mass was found to contain nodules of diffuse large B-cell lymphoma. This case highlights the importance of radiologists to consider the prospect tumor transformation in the differential diagnosis of enlarging abdominal masses.


Asunto(s)
Leucemia Linfocítica Crónica de Células B/diagnóstico por imagen , Leucemia Linfocítica Crónica de Células B/patología , Linfoma de Células B Grandes Difuso/diagnóstico por imagen , Linfoma de Células B Grandes Difuso/patología , Mesenterio/diagnóstico por imagen , Mesenterio/patología , Tomografía Computarizada por Rayos X , Anciano , Transformación Celular Neoplásica , Diagnóstico Diferencial , Humanos , Leucemia Linfocítica Crónica de Células B/cirugía , Linfoma de Células B Grandes Difuso/cirugía , Masculino , Mesenterio/cirugía , Clasificación del Tumor , Radiografía Abdominal
20.
Dev Med Child Neurol ; 59(11): 1130-1138, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28574172

RESUMEN

AIM: To conduct a systematic review and evaluate the quality of evidence for interventions to prevent hip displacement in children with cerebral palsy (CP). METHOD: A systematic review was performed using American Academy of Cerebral Palsy and Developmental Medicine (AACPDM) and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. Searches were completed in seven electronic databases. Studies were included if participants had CP and the effectiveness of the intervention was reported using a radiological measure. Results of orthopaedic surgical interventions were excluded. RESULTS: Twenty-four studies fulfilled the inclusion criteria (4 botulinum neurotoxin A; 2 botulinum neurotoxin A and bracing; 1 complementary and alternative medicine; 1 intrathecal baclofen; 1 obturator nerve block; 8 positioning; 7 selective dorsal rhizotomy). There was significant variability in treatment dosages, participant characteristics, and duration of follow-up among the studies. Overall, the level of evidence was low. No intervention in this review demonstrated a large treatment effect on hip displacement. INTERPRETATION: The level and quality of evidence for all interventions aimed at slowing or preventing hip displacement is low. There is currently insufficient evidence to support or refute the use of the identified interventions to prevent hip displacement or dislocation in children and young people with CP. WHAT THIS PAPER ADDS: High-quality evidence on prevention of hip displacement is lacking. No recommendations can be made for preventing hip displacement in children with cerebral palsy because of poor-quality evidence. High-quality, prospective, longitudinal studies investigating the impact of interventions on hip displacement are required.


Asunto(s)
Parálisis Cerebral/complicaciones , Luxación de la Cadera/etiología , Luxación de la Cadera/prevención & control , Toxinas Botulínicas Tipo A/uso terapéutico , Tirantes , Niño , Terapias Complementarias , Bases de Datos Factuales/estadística & datos numéricos , Humanos , Bloqueo Nervioso , Fármacos Neuromusculares/uso terapéutico , Evaluación de Resultado en la Atención de Salud , Rizotomía
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