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1.
J Arthroplasty ; 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38959988

RESUMEN

BACKGROUND: While individual risk factors, including chronic corticosteroid use, alcohol abuse, and smoking, are implicated in osteonecrosis (ON) of the femoral head (ONFH), the degree to which multiple risk factors increase risk is unknown. This study aimed to: (1) identify demographic characteristics of patients with ONFH; (2) quantify the effects of individual risk factors on ONFH development; (3) quantify the effects of combined risk factors on ONFH development; and (4) determine the prognostic implications of combined risk factors on ONFH development. METHODS: This was a retrospective cohort study. A national insurance database was used to study a population of 2,612,383 adult patients who had a 10-year follow-up period. There were 10,233 patients identified who had a diagnosis of ONFH. We identified patients who had chronic corticosteroid use, tobacco use, and/or alcohol abuse and assessed the risk of developing of ONFH over a 10-year period. Patients with individual and multiple risk factors were grouped for comparison, and Chi-square analyses were performed. RESULTS: Higher proportions of patients who had each individual risk factor developed ONFH compared to proportions of patients who did not have risk factors. Patients who had combined risk factors were at greater risk of developing ONFH compared to patients who had no risk factors and those who had single risk factors. Combined risk factors demonstrated multiplicative effects on the development of ONFH: tobacco-alcohol risk ratio (RR) 5.25, corticosteroid-alcohol RR 10.20, tobacco-corticosteroid RR 8.69, and corticosteroid-tobacco-alcohol RR 12.54. Patients who had combined risk factors developed ONFH at younger ages than those who had single risk factors. Kaplan-Meier curve analyses demonstrated worse 10-year hip survival in the setting of combined risk factors. CONCLUSION: Combined risk factors have a multiplicative effect on the risk of developing of atraumatic ONFH. Orthopaedic surgeons may care for at-risk individuals through modulation of risk factors.

2.
Clin Transl Sci ; 17(6): e13826, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38894576

RESUMEN

Following SARS-CoV-2 infection, some patients develop lingering neurologic symptoms of post-acute sequelae of COVID-19 (PASC) that commonly include fatigue and "brain fog." PASC symptoms are also linked with reduced growth hormone (GH) secretion, but GH treatment has not been tested to relieve symptoms. We enrolled 13 adults with neurologic PASC symptoms and peak stimulated GH secretion less than 10 ng/mL (glucagon stimulation) in a pilot study to receive 9 months of daily GH injections and an additional 3 months of off-treatment assessment. We compared peak stimulated GH secretion at baseline and 12 months and assessed measures of cognition, metabolism, body composition, and physical performance over the first 6 months of treatment. Patient-reported outcomes of fatigue, quality of life, sleep, and mood were recorded at baseline and compared with timepoints at 6, 9, and 12 months. GH treatment was associated with significantly improved scores for Brief Fatigue Inventory, Multidimensional Fatigue Symptom Inventory, Quality of Life Assessment of Growth Hormone Deficiency in Adults, Profile of Mood States, and Beck Depression Inventory-II, with no significant change in Pittsburgh Sleep Quality Index. Six months of adjunct GH treatment was not associated with significant changes in cognition, body composition, resting energy expenditure, or physical performance. Peak stimulated GH secretion was not altered at 12 months following 9 months of GH treatment. GH treatment significantly improved neurologic symptoms in PASC patients but cognition, sleep, and physical performance were not significantly altered.


Asunto(s)
Hormona de Crecimiento Humana , Síndrome Post Agudo de COVID-19 , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Composición Corporal/efectos de los fármacos , COVID-19/complicaciones , Fatiga/tratamiento farmacológico , Fatiga/etiología , Hormona de Crecimiento Humana/uso terapéutico , Proyectos Piloto , Síndrome Post Agudo de COVID-19/tratamiento farmacológico , Calidad de Vida , SARS-CoV-2/fisiología , Resultado del Tratamiento
3.
Am J Hum Genet ; 111(6): 1140-1164, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38776926

RESUMEN

Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome sequencing data for 33,924 families with rare disease from the 100,000 Genomes Project. From a database hosting >500 million SVs, we focused on 351 genes where haploinsufficiency is a confirmed disease mechanism and identified 47 ultra-rare rearrangements that included an inversion (24 bp to 36.4 Mb, 20/47 de novo). Validation utilized a number of orthogonal approaches, including retrospective exome analysis. RNA-seq data supported the respective diagnoses for six participants. Phenotypic blending was apparent in four probands. Diagnostic odysseys were a common theme (>50 years for one individual), and targeted analysis for the specific gene had already been performed for 30% of these individuals but with no findings. We provide formal confirmation of a European founder origin for an intragenic MSH2 inversion. For two individuals with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation. A de novo inversion of HOXD11-13 was uncovered in a family with Kantaputra-type mesomelic dysplasia. Lastly, a complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp. Overall, inversions play a small but notable role in rare disease, likely explaining the etiology in around 1/750 families across heterogeneous clinical cohorts.


Asunto(s)
Inversión Cromosómica , Enfermedades Raras , Humanos , Enfermedades Raras/genética , Masculino , Femenino , Inversión Cromosómica/genética , Linaje , Genoma Humano , Secuenciación Completa del Genoma , Proteína 2 de Unión a Metil-CpG/genética , Mutación , Proteínas de Homeodominio/genética , Persona de Mediana Edad
4.
Mol Cell Endocrinol ; 579: 112071, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-37816478

RESUMEN

OBJECTIVE: To determine if patients that develop lingering neurologic symptoms of fatigue and "brain fog" after initial recovery from coronavirus disease 2019 (COVID-19) have persistent low growth hormone (GH) secretion as seen in other conditions with similar symptom etiology. DESIGN: In this case-control observational pilot study, patients reporting lingering neurologic post-acute sequelae of SARS-CoV-2 (PASC, n = 10) symptoms at least 6 months after initial infection were compared to patients that recovered from COVID-19 without lingering symptoms (non-PASC, n = 13). We compared basic blood chemistry and select metabolites, lipids, hormones, inflammatory markers, and vitamins between groups. PASC and non-PASC subjects were tested for neurocognition and GH secretion, and given questionnaires to assess symptom severity. PASC subjects were also tested for glucose tolerance and adrenal function. RESULTS: PASC subjects reported significantly worse fatigue, sleep quality, depression, quality of life, and gastrointestinal discomfort compared to non-PASC. Although PASC subjects self-reported poor mental resilience, cognitive testing did not reveal significant differences between groups. Neurologic PASC symptoms were not linked to inflammatory markers or adrenal insufficiency, but were associated with reduced growth hormone secretion. CONCLUSIONS: Neurologic PASC symptoms are associated with gastrointestinal discomfort and persistent disruption of GH secretion following recovery from acute COVID-19. (www. CLINICALTRIALS: gov; NCT04860869).


Asunto(s)
COVID-19 , Humanos , COVID-19/complicaciones , SARS-CoV-2 , Proyectos Piloto , Calidad de Vida , Estudios de Casos y Controles , Progresión de la Enfermedad , Fatiga , Hormona del Crecimiento
5.
Nat Commun ; 14(1): 7702, 2023 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-38057330

RESUMEN

Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We perform saturation genome editing of DDX3X, testing in vitro the functional impact of 12,776 nucleotide variants. We identify 3432 functionally abnormal variants, in three distinct classes. We train a machine learning classifier to identify functionally abnormal variants of NDD-relevance. This classifier has at least 97% sensitivity and 99% specificity to detect variants pathogenic for NDD, substantially out-performing in silico predictors, and resolving up to 93% of variants of uncertain significance. Moreover, functionally-abnormal variants can account for almost all of the excess nonsynonymous DDX3X somatic mutations seen in DDX3X-driven cancers. Systematic maps of variant effects generated in experimentally tractable cell types have the potential to transform clinical interpretation of both germline and somatic disease-associated variation.


Asunto(s)
Neoplasias , Trastornos del Neurodesarrollo , Femenino , Humanos , Edición Génica , Virulencia , Trastornos del Neurodesarrollo/genética , Neoplasias/genética , Células Germinativas , Mutación de Línea Germinal , ARN Helicasas DEAD-box/genética
6.
Artículo en Inglés | MEDLINE | ID: mdl-37796978

RESUMEN

BACKGROUND: The effect of community water fluoridation on bone fragility and fracture has been inconclusive in the literature. The null hypothesis of this study was that no association was observed between water fluoride level and risk of fracture in children. METHODS: Community fluoridation data were obtained from the Centers for Disease Control and Prevention while data on fracture rates were obtained from the PearlDiver database. The rate of fracture type for each state was then compared with state-level fluoridation data using Pearson correlation coefficients and Wilcoxon rank-sum tests. RESULTS: Positive correlations were found between the percentage of state water fluoridation and fracture rates for both bone forearm fracture (BBFFx) and femur fracture. Fluoride levels had positive correlations with fracture rates for all fracture types. Increased fracture rates were found between states in the highest quartiles of percentage of state water fluoridation and fluoride water levels for supracondylar humerus fracture and BBFFx. CONCLUSIONS: A higher level of water fluoridation was associated with higher rates of supracondylar humerus fracture and BBFFx in children aged 4 to 10 years. These findings do not imply causality, but they suggest that additional investigation into the effect of fluoride on pediatric bone health may be indicated.


Asunto(s)
Traumatismos del Antebrazo , Fracturas del Húmero , Humanos , Niño , Fluoruración , Fluoruros , Huesos
7.
Int J Spine Surg ; 17(6): 771-778, 2023 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-37586747

RESUMEN

BACKGROUND: Surgical treatment of vertebral osteomyelitis, discitis, and epidural abscesses is indicated in the setting of failure of antibiotic therapy, neurological deficits, epidural abscess, or spinal instability/deformity. Historically, surgical treatment mandated aggressive debridement and spinal stabilization. However, there is growing evidence that direct debridement may not be necessary and may contribute to morbidity. The purpose of this study was to evaluate the efficacy of posterior instrumentation without debridement in treating spinal infections. METHODS: A retrospective medical record review was performed to identify patients treated with posterior instrumentation for spontaneous spinal infections. Success of treatment was determined based on postoperative ambulatory status, surgical complications, and need for revision surgery. RESULTS: Twenty-seven patients treated with posterior-only long-segmented rigid fixation without formal debridement of infected material were included. The most common indications for surgical intervention included spinal instability (67%), neurologic compromise (67%), and failure of prolonged antibiotic treatment (63%). There were no recurrent deep infections in 21 of 22 patients who had long-term follow-up. Four patients required revision surgery, and 3 additional patients requested elective hardware removal. Postoperatively, 70% were ambulatory with no assistive devices postoperatively. CONCLUSIONS: Vertebral osteomyelitis/discitis are challenging medical problems. Single-stage long-segment fusion without formal debridement combined with antibiotics is effective in the management of spontaneous spinal infections. CLINICAL RELEVANCE: The present study suggests that acute instrumentation without anterior debridement is associated with a resolution of infection and improvements in neurologic deficits in patient with spontaneous spine infections.

8.
Int J Pharm ; 644: 123304, 2023 Sep 25.
Artículo en Inglés | MEDLINE | ID: mdl-37572860

RESUMEN

Previously reported gold coated iron oxide nanoparticles (Au-IONP's) have demonstrated their effectiveness as drug delivery vehicles for gemcitabine conjugated to a thermally labile Diels-Alder linker containing a chain of 4 carbon atoms (TTLD4) for the treatment of pancreatic cancer. Heat generated via laser irradiation of Au-IONPs facilitated retro Diels-Alder mediated release in a burst release profile where approximately half of all total release over 180 min occurred within the first 5 min. Two analogues of TTLD4, which differ only in linker chain length (TTLD3 & TTLD6) were synthesised and conjugated to Au-IONP's. Heat-mediated release of gemcitabine at 45 °C over 180 min from these formulations was confirmed to be based on linker length, which was 94%, 76% and 45% for TTLD3, TTLD4 and TTLD6, respectively. Drug loading of the Diels-Alder linkers in a 5:1 Drug/Au-IONP w/w ratio appears to favour those containing an even number of carbons TTLD4 (76%) & TTLD6 (57%) over TTLD3 (25%), possibly due to the linker likely being positioned perpendicular to the Au-IONP surface because of the 120 °C-C bond.


Asunto(s)
Nanopartículas , Neoplasias Pancreáticas , Humanos , Gemcitabina , Nanopartículas/química , Neoplasias Pancreáticas/tratamiento farmacológico , Calor , Neoplasias Pancreáticas
9.
Int J Mol Sci ; 24(13)2023 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-37445620

RESUMEN

Cartilage defects can be difficult to treat; therefore, tissue engineering of cartilage is emerging as a promising potential therapy. One interesting area of research explores the delivery of cells to the cartilage defect via scaffold-based cell delivery vehicles and microsurgery. This study explores the use of novel poly(glycerol sebacate) methacrylate (PGSm)-polymerised high internal phase emulsion (polyHIPE) microspheres as scaffolds with embedded cells for cartilage tissue engineering. Porous microsphere scaffolds (100 µm-1 mm diameter) were produced from emulsions consisting of water and a methacrylate-based photocurable resin of poly(glycerol sebacate). These resins were used in conjunction with a T-junction fluidic device and an ultraviolet (UV) curing lamp to produce porous microspheres with a tuneable size. This technique produced biodegradable PGSm microspheres with similar mechanical properties to cartilage. We further explore these microspheres as scaffolds for three-dimensional culture of chondrocytes. The microspheres proved to be very efficient scaffolds for primary chondrocyte culture and were covered by a dense extracellular matrix (ECM) network during the culture period, creating a tissue disk. The presence of glycosaminoglycans (GAGs) and collagen-II was confirmed, highlighting the utility of the PGSm microspheres as a delivery vehicle for chondrocytes. A number of imaging techniques were utilised to analyse the tissue disk and develop methodologies to characterise the resultant tissue. This study highlights the utility of porous PGSm microspheres for cartilage tissue engineering.


Asunto(s)
Condrocitos , Ingeniería de Tejidos , Ingeniería de Tejidos/métodos , Microesferas , Materiales Biocompatibles , Porosidad , Metacrilatos , Cartílago , Andamios del Tejido , Células Cultivadas
10.
Spine (Phila Pa 1976) ; 48(15): 1057-1063, 2023 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-37134137

RESUMEN

STUDY DESIGN: Retrospective study. SUMMARY OF BACKGROUND DATA: Research has shown that the use of NSAIDs and COX-2 inhibitors increases the risk of pseudoarthrosis following spinal fusion surgery. Pseudoarthrosis can lead to complications such as chronic pain and the need for additional surgeries. OBJECTIVE: The purpose of this study was to examine the relationship between NSAID and COX-2 inhibitor use and pseudarthrosis, hardware complications, and revision surgeries in patients undergoing posterior spinal instrumentation and fusion. METHODS: We queried the PearlDiver database using CPT and ICD-10 codes to identify patients between the ages of 50 and 85 who underwent posterior spinal instrumentation between 2016 and 2019 and experienced pseudarthrosis, hardware failure, or revision surgery. Information regarding age, Charlson Comorbidity Index, tobacco use, osteoporosis, and obesity were extracted from the database along with COX-2 or NSAID use during the first 6-week post-surgery period. Logistic regression was used to identify associations while adjusting for confounders. RESULTS: There were 178,758 patients included in the cohort; 9,586 experienced pseudarthrosis (5.36%), 2828 (1.58%) experienced hardware failure, and 10,457 (5.85%) patients underwent revision fusion surgery. Of these patients 23,602 (13.2%) filled NSAID and 5278 (2.95%) filled COX-2 prescriptions. A significantly higher proportion of patients using NSAIDs experienced pseudarthrosis, hardware failure, and revision surgery compared to patients not taking NSAIDs. COX-2 inhibitors were also associated with a significantly higher rate of pseudarthrosis, hardware failure, and revision surgery. Postoperative ketorolac use was not associated with these complications. Regression models demonstrated that both NSAIDs and COX-2 inhibitors were associated with statistically higher pseudarthrosis, hardware failure, and revision surgery rates. CONCLUSIONS: Both NSAID and COX-2 inhibitor use in the early post-surgical period may be associated with increased rates of pseudarthrosis, hardware failure, and revision surgery in patients undergoing posterior spinal instrumentation and fusion.


Asunto(s)
Seudoartrosis , Fusión Vertebral , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Recién Nacido , Fusión Vertebral/efectos adversos , Reoperación/efectos adversos , Estudios Retrospectivos , Inhibidores de la Ciclooxigenasa 2 , Seudoartrosis/epidemiología , Seudoartrosis/etiología , Seudoartrosis/cirugía , Incidencia , Ciclooxigenasa 2 , Resultado del Tratamiento , Antiinflamatorios no Esteroideos
11.
J Pediatr Orthop ; 43(7): e508-e512, 2023 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-37231544

RESUMEN

BACKGROUND: Pin migration is a common complication associated with closed reduced and percutaneous pinning (CRPP) of supracondylar humerus fractures (SCHF) in children. Though this complication occurs frequently, little work has been done to elicit circumstances surrounding this complication. The purpose of this study was to evaluate patients with SCHF treated with percutaneous pins who needed to return to the operating room for pin removal. METHODS: This was a multicenter study involving children treated at 6 pediatric tertiary care centers between 2010 and 2020. Retrospective chart review was performed to identify children aged 3 to 10 years of age with a diagnosis of a SCHF. Current Procedural Terminology (CPT) codes were used to identify patients who underwent CRPP of their injuries. CPT codes for deep hardware removal requiring procedural sedation or anesthesia were used to identify patients who needed to return to the operating room for hardware removal. RESULTS: Between 2010 and 2020, 15 out of 7862 patients who were treated for SCHF at our 6 participating study centers experienced pin migration requiring a return to the operating room for pin removal, yielding a complication rate of 0.19%. Twelve (80%) of these injuries were Wilkins modification of the Gartland classification Type III, while the remaining injuries were Type II. 2-pin fixation constructs were used in nine (60%) children; 3-pin fixation constructs were used in 6 (40%) children. Pin migration was noted 23.2±7.0 days postoperatively at clinic follow-up. Four patients were noted to have multiple pins buried at follow-up. Four patients required 1-centimeter incisions for exposure of the buried pins, while surgeons were able to remove the buried pin with just a needle driver and blunt dissection in the remainder of patients. CONCLUSIONS: Pin migration is a common complication of closed reduction and percutaneous pinning of SCHF. There is variation in pin site management to prevent migration in the absence of underlying risk factors. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Fijación Intramedular de Fracturas , Fracturas del Húmero , Niño , Humanos , Preescolar , Estudios Retrospectivos , Quirófanos , Fracturas del Húmero/cirugía , Clavos Ortopédicos , Húmero/cirugía
12.
J Surg Orthop Adv ; 32(1): 23-27, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37185073

RESUMEN

Unsustainable spending and unsatisfactory outcomes have prompted a reanalysis of healthcare policy towards value. Several strategies have been proposed as part of this effort including cost sharing plans to shift costs to patients and gain-sharing models to shift risk to health systems. The patient perspective is rarely elicited in policy formation despite efforts to increase patient-centered care. We conducted a prospective study of 118 patients presenting to hand clinic to assess patient perspective of who should constrain treatment options (patient, physician, insurance company, hospital) and be responsible for costs in scenarios of clinical equipoise. We found that patients believed that insurance companies and hospitals should not constrain which treatment options are available to a patient and that physicians and patients should together influence the availability of treatment options. Patients were willing to cost share with insurance companies when choosing more expensive treatments or in the setting of non-life-threatening diseases. In addressing rising healthcare costs, patient perspectives can inform policies designed to increase value. Asking patients to cost share when choosing a more expensive treatment option in the setting of clinical equipoise could be a strategy for health systems to increase value. Level of Evidence: III (Journal of Surgical Orthopaedic Advances 32(1):023-027, 2023).


Asunto(s)
Atención a la Salud , Hospitales , Humanos , Estudios Prospectivos , Toma de Decisiones
13.
N Engl J Med ; 388(17): 1559-1571, 2023 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-37043637

RESUMEN

BACKGROUND: Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. METHODS: We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland. Standardized phenotypic data were collected, and exome sequencing and microarray analyses were performed to investigate novel genetic causes. We developed an iterative variant analysis pipeline and reported candidate variants to clinical teams for validation and diagnostic interpretation to inform communication with families. Multiple regression analyses were performed to evaluate factors affecting the probability of diagnosis. RESULTS: A total of 13,449 probands were included in the analyses. On average, we reported 1.0 candidate variant per parent-offspring trio and 2.5 variants per singleton proband. Using clinical and computational approaches to variant classification, we made a diagnosis in approximately 41% of probands (5502 of 13,449). Of 3599 probands in trios who received a diagnosis by clinical assertion, approximately 76% had a pathogenic de novo variant. Another 22% of probands (2997 of 13,449) had variants of uncertain significance in genes that were strongly linked to monogenic developmental disorders. Recruitment in a parent-offspring trio had the largest effect on the probability of diagnosis (odds ratio, 4.70; 95% confidence interval [CI], 4.16 to 5.31). Probands were less likely to receive a diagnosis if they were born extremely prematurely (i.e., 22 to 27 weeks' gestation; odds ratio, 0.39; 95% CI, 0.22 to 0.68), had in utero exposure to antiepileptic medications (odds ratio, 0.44; 95% CI, 0.29 to 0.67), had mothers with diabetes (odds ratio, 0.52; 95% CI, 0.41 to 0.67), or were of African ancestry (odds ratio, 0.51; 95% CI, 0.31 to 0.78). CONCLUSIONS: Among probands with severe, probably monogenic, difficult-to-diagnose developmental disorders, multimodal analysis of genomewide data had good diagnostic power, even after previous attempts at diagnosis. (Funded by the Health Innovation Challenge Fund and Wellcome Sanger Institute.).


Asunto(s)
Genómica , Enfermedades Raras , Niño , Humanos , Exoma , Irlanda/epidemiología , Reino Unido/epidemiología , Enfermedades Raras/diagnóstico , Enfermedades Raras/epidemiología , Enfermedades Raras/genética , Análisis de Secuencia por Matrices de Oligonucleótidos , Estudios de Asociación Genética , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/genética , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Facies , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/genética , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/genética
14.
J Orthop Trauma ; 37(5): e188-e193, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-36729005

RESUMEN

OBJECTIVES: To compare blood loss as estimated by surgeon-estimated blood loss (EBL), the Gross formula, and the HB equation in open pelvic and acetabular surgery. DESIGN: Retrospective cohort study. SETTING: Single Level I academic trauma center. PATIENTS: We included 710 patients 18-89 years of age who underwent acetabular or pelvic surgery between 2008 and 2018 for the management of fracture. INTERVENTION: Surgical treatment for the management of acetabular or pelvic fracture and blood transfusion when deemed clinically appropriate in the perioperative setting. MAIN OUTCOME MEASURES: Surgeon EBL and calculated blood loss (using the Gross formula, a Gross formula derivative, and the HB equation with both Moore and Nadler blood volume estimations). RESULTS: One hundred ninety-two patients (27%) received intraoperative blood transfusions. Surgeon EBL significantly differed from all formulas except the Gross/Nadler and the modified Gross/Nadler calculations. Gross and HB calculation methods yielded similar results in the overall cohort but yielded significantly different results in the subgroup analysis. Use of a corrective transfusion factor mildly improved correlation of the Gross equation with EBL. At high levels of blood loss, surgeon EBL predictions became more discordant with calculated blood loss values. When assessing only patients who did not receive transfusions, concordance improved. CONCLUSION: Blood loss in pelvic and acetabular surgery is challenging to quantify, and this study demonstrates discordance between formula predictions and surgeon-estimated blood loss. At higher levels of blood loss, this discrepancy worsens. This exploratory study highlights the need for the development of improved methods of quantifying blood loss in orthopaedic trauma surgery. LEVEL OF EVIDENCE: Diagnostic Level III. See Instructions for Authors for a complete description of levels of evidence.


Asunto(s)
Fracturas Óseas , Huesos Pélvicos , Cirujanos , Humanos , Estudios Retrospectivos , Huesos Pélvicos/cirugía , Huesos Pélvicos/lesiones , Acetábulo/cirugía , Acetábulo/lesiones , Fracturas Óseas/cirugía , Fracturas Óseas/diagnóstico , Hemorragia , Pérdida de Sangre Quirúrgica
15.
J Pediatr Orthop ; 42(8): e878-e881, 2022 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-35797178

RESUMEN

BACKGROUND: Idiopathic toe walking (ITW) can result in early contact with the health care system and be distressing for patients and their families. The natural history of ITW is poorly characterized. Deciding how and when to intervene can be difficult.Patient-reported outcomes are utilized in the clinical setting to assess patient factors and indications that may better inform treatment plans. Patient-Reported Outcomes Measurement Information System (PROMIS) is an instrument designed to collect patient-reported outcomes. Minimum clinically important differences in PROMIS metrics have been established to facilitate clinical relevance and utility of these metrics. The purpose of this study was to characterize the patient perspective of ITW by utilizing the PROMIS scores. METHODS: Retrospective chart review was performed to identify children aged 5 to 17 with a diagnosis of ITW treated at a single tertiary care center between 2017 and 2020. Inclusion criteria were a diagnosis of ITW and completion of a PROMIS questionnaire. Exclusion criteria were neurologic disease, autism, and previous surgical treatment. Demographic, physical exam, treatment, and available motion analysis data were collected. PROMIS scores for the following domains were available: Mobility, Peer Relationships, and Pain Interference. RESULTS: Forty-five children were enrolled. Seventy-three percent of PROMIS scores were patient reported while the remainder were parent reported. PROMIS score means for the cohort by domain were Mobility: 45.2±8.2 ( P <0.000); Peer Relationships: 46.4±11.6 ( P =0.047); and Pain Interference: 47.4±9.5 ( P =0.67). Motion analysis data, available for 11 children, noted age-matched gait velocity negatively correlated ( rs =-0.652, P =0.03) with Peer Relationships. No correlations were found between other aspects of gait, body mass index, or limitations in dorsiflexion and PROMIS domains. Parents reported lower Mobility scores than children did. There were no other significant differences between patient-reported and parent-reported PROMIS scores. PROMIS scores did not differ significantly between those <10 years and those ≥10 years. CONCLUSION: In this cohort of 45 otherwise healthy children without other neurologic diagnoses, there are both clinically and statistically significant differences in PROMIS means between our cohort and the healthy age-matched population. These differences manifested in worse peer relationships and mobility scores. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Sistemas de Información , Medición de Resultados Informados por el Paciente , Niño , Humanos , Dolor , Estudios Retrospectivos , Dedos del Pie
16.
Obstet Gynecol ; 140(2): 305-310, 2022 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-35852282

RESUMEN

OBJECTIVE: To perform a quality-improvement project to increase the rate at which expedited partner therapy is offered and prescribed at our clinic, in line with Connecticut Department of Public Health regulations. METHODS: We conducted quality-improvement interventions at an urban hospital-based outpatient clinic in Hartford, Connecticut, to improve prescribing of expedited partner therapy to at least 70% of eligible patients. We defined appropriate provision of expedited partner therapy by infection type (gonorrhea or chlamydia only per Centers for Disease Control and Prevention guidelines) and method of prescription per Connecticut Department of Public Health regulations (paper prescription or in-clinic dispensing). RESULTS: Rates of appropriate provision of expedited partner therapy improved with our interventions (21.6% vs 75.5%). We found an unexpected decrease in acceptance by patients after initiation of our interventions (81.3% vs 50.5%). CONCLUSION: We achieved our goal of improvement of rates of appropriate provision of expedited partner therapy to greater than 70% and have maintained this improvement over time. Future work should investigate potential barriers to expedited partner therapy acceptance, including type of infection, the effect of Department of Public Health regulation of prescribing options, and standard workflow in patient counseling.


Asunto(s)
Infecciones por Chlamydia , Gonorrea , Ginecología , Obstetricia , Enfermedades de Transmisión Sexual , Infecciones por Chlamydia/tratamiento farmacológico , Infecciones por Chlamydia/epidemiología , Infecciones por Chlamydia/prevención & control , Trazado de Contacto , Gonorrea/prevención & control , Humanos , Parejas Sexuales , Enfermedades de Transmisión Sexual/prevención & control
17.
J Pediatr Orthop ; 42(7): 367-371, 2022 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-35551146

RESUMEN

BACKGROUND: Distal radius buckle fractures (DRBFx) represent nearly half of the pediatric wrist injuries. DRBFx are stable injury patterns that can typically be successfully managed with brief immobilization. The purpose of this study was to evaluate opinions and preferences of pediatric orthopaedic specialists regarding the management of DRBFx. METHODS: The POSNA Trauma Quality, Safety, and Value Initiative (QSVI) Committee developed a 20-question survey regarding the treatment of DRBFx in children. The survey was sent twice to all active and candidate POSNA members in June 2020 (n=1487). Questions focused on various aspects of treatment, including type and length of immobilization, follow-up, and radiographs and on potential concerns regarding patient/family satisfaction and pain control, medicolegal concerns, misdiagnosis, and mismanagement. RESULTS: A total of 317 participants completed the survey (response rate=21.3%). In all, 69% of all respondents prefer to use a removable wrist splint, with 76% of those in practice <20 years preferring removable wrist splints compared with 51% of those in practice >20 years (χ 2 =21.7; P <0.01). Overall, 85% of participants utilize shared decision-making in discussing management options with patients and their families. The majority of participants felt that the risk of complications associated with DRBFx was very low, but concern for misdiagnosis and mismanagement have required some respondents to perform closed or open reductions. CONCLUSIONS: In 2020, the majority of respondents treat DRBFx with removable splints (69%) for 3 or fewer weeks (55%), minimal follow-up (85%), and no reimaging (64%). This marks a dramatic shift from the 2012 POSNA survey when only 29% of respondents used removable splinting for DRBFx. LEVEL OF EVIDENCE: Level II.


Asunto(s)
Ortopedia , Fracturas del Radio , Traumatismos de la Muñeca , Niño , Humanos , Radio (Anatomía) , Fracturas del Radio/diagnóstico por imagen , Fracturas del Radio/terapia , Férulas (Fijadores) , Traumatismos de la Muñeca/terapia
20.
JBJS Case Connect ; 12(2)2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-37440613

RESUMEN

CASE: A 5-year-old previously healthy girl sustained a left proximal humerus fracture after a fall from a trampoline. The injury was initially treated nonoperatively, but during routine follow-up, the patient was found to have a previously unrecognized bony erosion at the fracture site. Workup was negative for neoplasm but instead demonstrated Salmonella osteomyelitis. The patient underwent debridement and treatment with antibiotics. CONCLUSION: This is an unusual presentation of a humerus fracture in a child with concomitant Salmonella osteomyelitis. Osteomyelitis is an important diagnostic consideration when considering bony erosions in the pediatric patient, even in those patients without apparent risk factors.


Asunto(s)
Fracturas del Húmero , Osteomielitis , Infecciones por Salmonella , Fracturas del Hombro , Femenino , Humanos , Niño , Preescolar , Infecciones por Salmonella/complicaciones , Infecciones por Salmonella/diagnóstico , Osteomielitis/complicaciones , Osteomielitis/diagnóstico por imagen , Osteomielitis/terapia , Fracturas del Húmero/complicaciones , Fracturas del Húmero/diagnóstico por imagen , Antibacterianos/uso terapéutico , Fracturas del Hombro/complicaciones , Fracturas del Hombro/diagnóstico por imagen , Fracturas del Hombro/terapia , Salmonella
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