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1.
J Pediatr Orthop ; 44(3): e292-e297, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38131346

RESUMO

BACKGROUND: Podcasts have become increasingly utilized in medical education over the past decade, especially in orthopaedic surgery. Compared with more traditional learning tools, podcasts are easily accessible, free, and capable of use while multitasking. Despite these apparent benefits, the effectiveness of podcasts as a dissemination tool for emerging peer-reviewed literature is not well understood. The Peds Ortho Podcast is the official podcast of Pediatric Orthopedic Society of North America that highlights recently published peer-reviewed articles through author interviews and executive summaries of featured articles. The purpose of this study was to compare the distribution of the Peds Ortho Podcast to traditional media by comparing electronic access statistics between the podcast episodes and the journal articles they summarize. METHODS: Podcast episodes were reviewed to catalog the abstracts and articles discussed therein. Because podcasts and articles utilize different electronic metrics to track distribution, we established a common metric of an "access," which we defined as an "intent to consume the media." For articles, we defined an "access" as the largest value of a publisher's online metrics, be it abstract views, full text views, or article downloads. For podcast episodes, we defined an "access" as any play >0 seconds. Access data were analyzed using independent samples t test and analyses of variance. RESULTS: Eighty episodes of the Peds Ortho Podcast have featured 333 published, peer-reviewed articles to date, with 303 included in the final analysis with available article metrics. There were significantly more mean electronic accesses per podcast episode than featured articles (1236 vs. 482, P <0.001). Podcast consumption greatly varies in the first 30 days following episode release; however, recent episodes have a substantial proportion of accesses soon after publication. CONCLUSIONS: Given that podcast electronic access is greater than traditional media, podcasts appear to be a valuable tool for health care providers and trainees. Podcasts serve a complementary role to traditional media by quickly disseminating main points and raising awareness of emerging research.


Assuntos
Educação Médica , Procedimentos Ortopédicos , Ortopedia , Criança , Humanos , Avaliação Educacional , Editoração
2.
J Pediatr Orthop ; 44(3): e218-e225, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38108380

RESUMO

OBJECTIVE: In situ fixation for treatment of slipped capital femoral epiphysis (SCFE) can stabilize the epiphysis and prevent further joint deformation but often leaves residual deformity that may adversely affect intra-articular contact mechanics. The purpose of this study was to investigate the relationship between residual deformity and contact mechanics in the post-SCFE hip. METHODS: Patient-specific hip models were created for 19 patients with SCFE treated with in situ fixation. For each model, discrete element analysis was used to compute cumulative acetabular and femoral contact stress exposure during a walking gait cycle. Slip severity was evaluated for each patient using the two-dimensional Southwick angle and a novel three-dimensional (3D) assessment of multiplanar femoral deformity (3D slip angle). RESULTS: Of the SCFE cases, 2/7 mild (Southwick angle ≤30 degrees) had peak cumulative femoral exposures equivalent to that of severe (Southwick angle ≥60 degrees) cases. Severe SCFE cases had higher peak ( P = 0.015) and mean ( P = 0.028) femoral contact stress exposure and lower cumulative femoral contact area ( P = 0.003) than mild (Southwick angle ≤30 degrees) SCFE cases. Mean femoral contact stress exposure was also higher in severe SCFE cases than in moderate SCFE cases ( P = 0.027). Acetabular and femoral contact mechanics metrics typically demonstrated stronger correlations with 3D slip angle than two-dimensional Southwick angle. CONCLUSIONS: Increased slip severity adversely impacts intra-articular femoral contact mechanics. Contact mechanics metrics demonstrate higher correlations with 3D slip angle, indicating that this novel measurement may better describe global deformity and its relationship to intra-articular mechanics; however, the modest strength of these correlations may also imply that global impingement-generating deformity is not the primary factor driving contact mechanics in the post-SCFE hip. CLINICAL RELEVANCE: Greater slip severity adversely impacts contact mechanics in the post-SCFE hip. However, focal regions of high contact stress were seen even in mild SCFE deformities, suggesting some type of deformity correction should be considered even for mild slips to alleviate secondary impingement, address focal incongruities, and reduce osteoarthritis development/progression.


Assuntos
Articulação do Quadril , Escorregamento das Epífises Proximais do Fêmur , Humanos , Articulação do Quadril/cirurgia , Escorregamento das Epífises Proximais do Fêmur/cirurgia , Acetábulo , Fêmur , Epífises
3.
J Pediatr Orthop ; 40(1): e19-e24, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30994580

RESUMO

BACKGROUND: Throwing guidelines have been implemented in Little League baseball in an attempt to minimize injuries in young baseball players. We hypothesized that playing pitcher or catcher and increased innings played during the season would result in dominant shoulder magnetic resonance imaging (MRI) abnormalities. METHODS: A prospective evaluation of Little League players aged 10 to 12 years was performed. Players recruited before the start of the season underwent bilateral preseason and dominant shoulder postseason MRI, physical examination, and questionnaires addressing their playing history and arm pain. Innings played, player position, pitch counts, and all-star team selection were recorded. RESULTS: In total, 23 players were enrolled. The majority (19/23, 82.6%) were right-handed and 16 of 23 (69.6%) played at least 10 innings as pitcher or catcher. Sixteen were selected for the all-star team. Fourteen players (60.9%) had positive dominant shoulder MRI findings not present in their nondominant shoulder. Eight players (34.8%) had new or worsening postseason MRI findings. Thirteen players (81.3%) selected to the all-star team had abnormal MRI findings whereas only one (14.3%) player not selected as an all-star had MRI abnormalities (P=0.005). Year-round play (P=0.016), innings pitched (P=0.046), innings catcher (P=0.039), and number of pitches (P=0.033) were associated with any postseason MRI abnormality, but not for new or worsening MRI changes. Single sport athletes and players playing for multiple teams were significantly more likely to have abnormal MRI findings (P=0.043 and 0.040, respectively) when compared with multisport athletes playing on a single team. CONCLUSIONS: MRI abnormalities involving the dominant shoulder are common in Little League baseball players and often develop or worsen during the season. Contrary to our hypothesis, MRI abnormalities were not associated with player position and pitch counts. Instead, they were most closely associated with year round play, single sports participation, and all-star team selection. The increased demands required for all-star selection comes at a price to the young athlete as the majority of players selected for this honor had abnormal MRI findings in their throwing shoulder while few non all-stars demonstrated such pathology. LEVEL OF EVIDENCE: Level II.


Assuntos
Beisebol/lesões , Beisebol/estatística & dados numéricos , Lesões do Ombro/diagnóstico por imagem , Articulação do Ombro/diagnóstico por imagem , Criança , Humanos , Imageamento por Ressonância Magnética , Exame Físico , Estudos Prospectivos , Inquéritos e Questionários
4.
J Pediatr Orthop ; 38(5): e245-e251, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29462120

RESUMO

BACKGROUND: Supracondylar humeral fractures (SCHF) are the most common elbow fractures in children. The epidemiology of these injuries in the United States is described. METHODS: The Nationwide Emergency Department Sample database was queried for all children (age, below 18 y) with SCHF treated in the emergency department (ED) from 2006 to 2011, and weighted estimates were extracted. RESULTS: A total of 63,348 ED visits for SCHF were identified. The weighted estimate of ED visits remained stable over the study period, ranging from 60.3 to 71.8 per 100,000 children annually. There was no significant difference in fracture rate (52% male) by sex. The mean age of closed injury was 5.5±3.1 years, with 53.6% of fractures occurring in children 3 to 6 years. Open injuries accounted for 1.0% of fractures. Children with open injuries were significantly older (mean, 9.1±4.4 y; P<0.0001) and more often male (OR, 1.43; P<0.001). Neurovascular injury occurred in significantly older children (mean, 7.6±3.1 y; P<0.0001) and was documented in 11.4% of open fractures and 3.6% of operative fractures. Although the South had the greatest number of total SCHF-related ED visits, children in the West had significantly more SCHF-related ED visits per 100,000 children annually (77.9) than all other regions (P<0.05). Average fracture rates were approximately 60% higher in April to September than October to March (P<0.001). Mean total charges for patients treated and discharged from the ED were $2965, compared with $17,865 in children admitted for surgery (P<0.05). Mean charges were significantly higher in the West compared with all other regions (P<0.0001). CONCLUSIONS: The incidence of pediatric SCHF-related ED visits remained stable from 2006 to 2011 and occurred most frequently in children aged 3 to 6 years. Open injuries are rare and are more likely to occur in older boys. There are significant differences in the injury rates and charges across geographic regions, identifying opportunities for injury prevention, cost reduction, and value improvement. The indications for operative management should be clearly delineated given the high cost of surgical treatment. LEVEL OF EVIDENCE: Therapeutic Level IV.


Assuntos
Lesões no Cotovelo , Fraturas do Úmero , Adolescente , Criança , Pré-Escolar , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Fraturas Expostas/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Fraturas do Úmero/epidemiologia , Fraturas do Úmero/cirurgia , Incidência , Masculino , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia
5.
J Pediatr Orthop ; 37(8): e505-e511, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28777284

RESUMO

BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease commonly including progressive scoliosis resulting in severe deformity and negatively affecting pulmonary function. Surgical correction and stabilization of this progressive deformity is generally recommended; however, the timing and method of surgical fixation remains controversial. METHODS: Retrospective review of clinical, radiographic, and pulmonary function data from 16 children with SMA and surgically treated scoliosis between 1985 and 2013. Radiographic data included direct measures of major curve, coronal balance, pelvic obliquity, T1-T12 height, T1-S1 height, and T1-rod length. Estimations of rib collapse, thoracic cavity shape, and space-available-for-lung (T6:T12, width ratio; T6:T10, rib-vertebral-angle difference ratios; and lung height) were determined. Eleven patients were able to complete pulmonary function testing. Results were compared with published outcomes for growing rod constructs. RESULTS: Posterior spinal fusion was performed at an average age of 9.8±3.6 years. The mean age at most recent follow-up was 19.4 years (range, 10 to 37 y), with a mean follow-up of 10.1 years (range, 3.1 to 26 y). Radiographic measurements improved from preoperative to latest follow-up as follows: major curve, 78±20 degrees to 27±24 degrees; coronal balance, 4.1±4.0 cm to 1.9±2.2 cm; pelvic obliquity (median), 23 to 5 degrees; T1-T12 height, 19±3 cm to 22±3 cm; T1-S1 height, 31±7 cm to 36±6 cm; T1-rod length, 0.8±1.1 cm (postop) to 2.8±1.6 cm (final); and space-available-for-lung ratio, 0.88±0.26 to 0.95±0.25. Rib collapse continued throughout the follow-up period in all but 1 patient. Pulmonary function testing demonstrated a decrease in rate of decline in forced vital capacity and forced expiratory volume when comparing preoperative with postoperative rates. Mean length of stay was 7.8±4.4 days. Complications included reintubation for low tidal volumes (n=1), pneumonia (n=1), superficial wound breakdown (n=1), and superficial infection (n=1). CONCLUSIONS: Definitive posterior spinal fusion for treatment of scoliosis associated with SMA is effective at controlling curve progression and pelvic obliquity without negatively impacting the space-available-for-lung ratio, trunk height, or pulmonary function at 10 years follow-up. LEVEL OF EVIDENCE: Therapeutic Level IV.


Assuntos
Pulmão/fisiopatologia , Atrofia Muscular Espinal/complicações , Escoliose/etiologia , Escoliose/cirurgia , Fusão Vertebral/métodos , Adolescente , Adulto , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Testes de Função Respiratória , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
6.
J Arthroplasty ; 31(2): 378-82, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26391927

RESUMO

BACKGROUND: We introduced a multimodal, multidisciplinary approach to perioperative blood management aimed at reducing blood transfusions in primary knee (TKA) and hip (THA) arthroplasty. The protocol included (1) preoperative hemoglobin optimization through a multidisciplinary approach, (2) minimization of perioperative blood loss, and (3) adherence to evidence-based transfusion guidelines. METHODS: Evaluation of 1010 consecutive patients undergoing primary TKA (488) or THA (522) was performed. RESULTS: A significant reduction in the overall transfusion rate (1.4% vs 17.9%, P<.0001) resulted after algorithm introduction, when compared with the 1814 previous patients. Zero (0%) TKA and 4 (0.8%) THA patients adherent to protocol, and 4/488 (0.8%) TKA and 10/522 (1.9%) THA patients overall received transfusions. CONCLUSION: Adoption of a multimodal blood management algorithm can significantly reduce blood transfusions in primary joint arthroplasty.


Assuntos
Artroplastia de Quadril , Artroplastia do Joelho , Transfusão de Sangue , Protocolos Clínicos , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Anemia/diagnóstico , Anemia/terapia , Antifibrinolíticos/administração & dosagem , Perda Sanguínea Cirúrgica/prevenção & controle , Gerenciamento Clínico , Feminino , Hemoglobinas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Assistência Perioperatória , Hemorragia Pós-Operatória/prevenção & controle , Ácido Tranexâmico/administração & dosagem
7.
Am J Sports Med ; 48(2): 466-472, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31801034

RESUMO

BACKGROUND: Prior studies have revealed magnetic resonance imaging (MRI) evidence of elbow pathology in single-season evaluation of competitive youth baseball players. The natural history of these findings and risk factors for progression have not been reported. PURPOSE: To characterize the natural history of bilateral elbow MRI findings in a 3-year longitudinal study and to correlate abnormalities with prior MRI findings, throwing history, playing status, and physical examination. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: A prospective study of Little League players aged 12 to 15 years was performed. All players had preseason and postseason bilateral elbow MRI performed 3 years before this study. Players underwent repeat bilateral elbow MRI, physical examination, and detailed assessment of throwing history, playing status, and arm pain. Imaging was read by a blinded musculoskeletal radiologist and compared with prior MR images to assess for progression or resolution of previously identified pathology. RESULTS: All 26 players who participated in the previous single-season study returned for a 3-year assessment. At the completion of the study, 15 players (58%) had dominant arm MRI pathology. Eighty percent (12/15 players) of MRI findings were new or progressive lesions. Players with postseason MRI pathology at the beginning of the study were more likely to have MRI pathology at the 3-year follow-up than players with previously normal postseason MRI (P < .05), although 6 of the 14 players (43%) with previously normal MRI developed new pathology. Year-round play was a significant predictor of tenderness to elbow palpation (P = .027) and positive MRI findings at 3 years (P = .047). At the 3-year follow-up, 7 players (27%) reported having throwing elbow pain and 3 had required casting. Additionally, differences were noted in the dominant arm's internal and external rotation in those that continued to play baseball (P < .05). CONCLUSION: Dominant elbow MRI abnormalities are common in competitive Little League Baseball players. Year-round play imparts significant risk for progression of MRI pathology and physical examination abnormalities.


Assuntos
Beisebol , Articulação do Cotovelo/diagnóstico por imagem , Cotovelo/diagnóstico por imagem , Imageamento por Ressonância Magnética , Adolescente , Criança , Estudos de Coortes , Articulação do Cotovelo/patologia , Humanos , Estudos Longitudinais , Exame Físico , Estudos Prospectivos , Rotação
9.
J Bone Joint Surg Am ; 99(8): 681-687, 2017 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-28419036

RESUMO

BACKGROUND: Understanding national trends in the treatment of pediatric supracondylar humeral fractures will provide important insight into variations in regional treatment and identify areas for improving value and quality in care delivery in the U.S. METHODS: U.S. national trends in the treatment of supracondylar humeral fractures were evaluated through query of the Humana (2007 to 2014) and ING (2007 to 2011) administrative claims databases. Geographic variation and changes in surgical and transfer rates over time were further explored through the Nationwide Emergency Department Sample (NEDS) database (2006 to 2011). Hospital characteristics impacting treatment decisions were identified. RESULTS: A total of 29,642 pediatric patients with supracondylar humeral fractures were identified in the administrative claims databases and a projected 63,348 encounters for supracondylar humeral fracture were identified in the NEDS database. The majority of the patients (76.1%; 22,563 of 29,642) were treated definitively with cast immobilization. Operative treatment was performed in 23.9% of the patients (7,079 of 29,642), with no change observed in the operative rate over time (p = 0.055). Of patients undergoing operative treatment, closed reduction and percutaneous pinning (CRPP) was performed in 87.3%, with a significant increase noted in the rate of CRPP over time (p = 0.0001); open reduction was performed in 12.7%, with a significant decrease noted in the rate of open reduction over time (p < 0.0001). Regional surgical rates generally showed significant variation from 2006 to 2010, followed by a convergence in the surgical rate among all geographic regions in 2011. These trends occurred simultaneous to a significant increase in transfer rates nationwide, from 5.6% in 2006 to 9.1% in 2011 (p = 0.0011). Transfer rates were significantly higher (p < 0.0001) for nontrauma, nonteaching, and nonmetropolitan centers while surgical rates were significantly higher (p < 0.0001) for trauma, teaching, and metropolitan centers when rates were analyzed by hospital designation. CONCLUSIONS: Operative treatment was performed in 24% of pediatric patients with supracondylar humeral fractures from 2007 to 2014. There was a convergence of surgical rates across geographic regions, suggesting that a "standard of care" in the treatment of supracondylar humeral fractures is being established nationally. CLINICAL RELEVANCE: Cases of pediatric supracondylar humeral fracture are increasingly being transferred to and, when managed surgically, receiving care at metropolitan facilities designated as trauma centers or teaching hospitals, with a corresponding decrease observed in the rate of open reduction. The optimization of nationwide referral and treatment patterns may improve value in care delivery.


Assuntos
Moldes Cirúrgicos/tendências , Fixação de Fratura/tendências , Fraturas do Úmero/terapia , Redução Aberta/tendências , Adolescente , Pinos Ortopédicos , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Humanos , Fraturas do Úmero/cirurgia , Lactente , Recém-Nascido , Masculino , Padrão de Cuidado , Estados Unidos
10.
JBJS Essent Surg Tech ; 5(3): e16, 2015 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-30473924

RESUMO

INTRODUCTION: A relapsed idiopathic clubfoot can be effectively treated with transfer of the entire tibialis anterior tendon to the mid-dorsum of the foot following repeated manipulations and serial casts. STEP 1 PREOPERATIVE PLANNING: Ensure that the foot has been adequately corrected for tendon transfer by performing both clinical and radiographic evaluation. STEP 2 PREPARE THE PATIENT: Position the patient supine, induce general anesthesia, and perform a caudal block for postoperative pain management. STEP 3 IDENTIFY AND RELEASE THE TIBIALIS ANTERIOR TENDON FROM ITS INSERTION: Identify the tibialis anterior tendon and release its insertion on the medial cuneiform and first metatarsal bones. STEP 4 PREPARE THE TENDON AND SURROUNDING TISSUES FOR TRANSFER: Release obstructing tissues and prepare the freed tendon for lateral transfer to the mid-dorsum of the foot. STEP 5 PREPARE THE LATERAL CUNEIFORM FOR TENDON TRANSFER AND FIXATION: Identify the lateral cuneiform with fluoroscopy and prepare it for transfer of the tibialis anterior tendon. STEP 6 TRANSFER AND SECURE THE TENDON: Make a subcutaneous path, transfer the tendon, and secure it in the osseous tunnel of the lateral cuneiform. STEP 7 POSTOPERATIVE CARE: We apply a long leg cast and restrict patients to non-weight-bearing for six weeks. RESULTS: The tibialis anterior tendon transfer has been used to treat relapsing idiopathic clubfoot with great success for more than fifty years.IndicationsContraindicationsPitfalls & Challenges.

11.
J Bone Joint Surg Am ; 97(1): 47-55, 2015 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-25568394

RESUMO

BACKGROUND: Relapse of idiopathic clubfoot deformity after treatment can be effectively managed with repeat casting and tibialis anterior tendon transfer during early childhood. We evaluated the long-term effects on adult foot function after tibialis anterior tendon transfer for relapsed idiopathic clubfoot deformity during childhood. METHODS: Thirty-five patients (sixty clubfeet) in whom idiopathic clubfoot was treated with the Ponseti method from 1950 to 1967 were followed. At an average age of forty-seven years (range, thirty-seven to fifty-five years), the patients underwent a detailed musculoskeletal examination, radiographic evaluation, pedobarographic analysis, and surface electromyography (EMG). They also completed three quality-of-life patient questionnaires. RESULTS: Fourteen patients (twenty-five clubfeet, 42%) had required repeat casting and tibialis anterior tendon transfer in childhood for relapsed clubfoot deformity after initial casting and served as the study group. Twenty-one patients (thirty-five clubfeet, 58%) were successfully treated with initial casting without relapse (the reference group). No patient in either group had subsequent relapse or required additional operative intervention associated with clubfoot deformity. The mean ankle dorsiflexion was similar between the groups. Radiographically, the tendon transfer group showed a smaller mean anteroposterior talocalcaneal angle and slightly more talar flattening than the reference group with no associated clinical differences. Peak pressures, total force distribution, and surface EMG results were not significantly different between the groups. Outcome questionnaires demonstrated no significant difference between the groups. CONCLUSIONS: Tibialis anterior tendon transfer is very effective at preventing additional relapse of deformity without affecting long-term foot function of patients with idiopathic clubfoot.


Assuntos
Pé Torto Equinovaro/cirurgia , Transferência Tendinosa , Adulto , Moldes Cirúrgicos , Criança , Pré-Escolar , Pé Torto Equinovaro/diagnóstico , Seguimentos , Humanos , Lactente , Pessoa de Meia-Idade , Qualidade de Vida , Recidiva , Estudos Retrospectivos , Falha de Tratamento , Resultado do Tratamento
12.
J Biomater Appl ; 27(8): 1046-54, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22262572

RESUMO

Avascularity and hypoxia result in avascular necrosis and play a negative role in fracture healing. The FDA-approved iron chelating agent, desferoxamine (DFO) in a liquid form, has been shown to induce angiogenesis and improve fracture healing through upregulation of the vascular endothelial growth factor. We were concerned that local injection of DFO would either fail to adequately deliver sufficient drug to the desired site or lead to undesired delivery to adjacent sites. Therefore, a sustained release delivery system was desirable to direct DFO to the intended site. Calcium sulfate pellets, collagen sponges, and demineralized cortical bone matrix were all evaluated as potentially controlled release systems for DFO using a fetal mouse metatarsal angiogenesis assay. Angiogenesis was analyzed using a vascularity grading scale, by measuring the mean vessel length of the 5 longest vessels, and by counting the mean number of vessels per metatarsal. Although there was some evidence of angiogenesis with all three carriers, DFO loaded CaSO4 pellets increased vascularity grading, the mean length of the five longest vessels, and the mean number of vessels, all by statistically significant margins versus the control. These results suggest that CaSO4 pellets could be used as a viable, nontoxic, controlled release system for DFO in clinical situations where increased angiogenesis and bone growth are desirable.


Assuntos
Desferroxamina/administração & dosagem , Portadores de Fármacos/química , Fator A de Crescimento do Endotélio Vascular/biossíntese , Animais , Materiais Biocompatíveis/química , Matriz Óssea/química , Sulfato de Cálcio/química , Colágeno/química , Sistemas de Liberação de Medicamentos , Feminino , Consolidação da Fratura/efeitos dos fármacos , Humanos , Fator 1 Induzível por Hipóxia/metabolismo , Teste de Materiais , Camundongos , Camundongos Endogâmicos C57BL , Neovascularização Fisiológica/efeitos dos fármacos , Osteonecrose/tratamento farmacológico , Osteonecrose/terapia , Gravidez , Regulação para Cima/efeitos dos fármacos
13.
Pediatrics ; 127(5): e1258-65, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21518713

RESUMO

OBJECTIVE: Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess heparan and dermatan sulfates within the lysosomes of various tissues and organs, including the central nervous system. The purpose of this study was to investigate the natural progression of neurologic disease in a large cohort of patients evaluated with standardized testing at a single institution. METHODS: During the period of December 2002 to October 2010, patients with MPS II were referred to the Program for Neurodevelopmental Function in Rare Disorders. A retrospective review of patient data was performed, which included the use of detailed questionnaires that addressed medical history, notes from previous health care providers, and the results of a multidisciplinary evaluation that lasted 4 to 6 hours and was performed by a team of neurodevelopmental pediatricians, speech pathologists, psychologists, audiologists, psychometricians, and occupational and physical therapists. Patients were evaluated annually for management of disease progression. RESULTS: A total of 50 male patients with MPS II were evaluated over 152 encounters. Two distinct subgroups of children were identified. One subset of patients had normal cognitive, speech and language, and adaptive functions whereas the other showed a dramatic decline in these areas. All patients developed fine and gross motor deficits. CONCLUSION: The natural progression of MPS II manifests as 2 divergent and distinct neurologic phenotypes with similar somatic disease. Patients may have primary neural parenchymal disease with cognitive involvement or may maintain normal cognitive abilities.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Progressão da Doença , Mucopolissacaridose II/fisiopatologia , Doenças do Sistema Nervoso/diagnóstico , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Estudos de Coortes , Deficiências do Desenvolvimento/epidemiologia , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Transtornos Mentais , Transtornos das Habilidades Motoras/diagnóstico , Transtornos das Habilidades Motoras/epidemiologia , Mucopolissacaridose II/diagnóstico , Mucopolissacaridose II/mortalidade , Doenças do Sistema Nervoso/epidemiologia , Psicometria , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Análise de Sobrevida , Fatores de Tempo
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