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Genetics and Epigenetics of Legg-Calvé-Perthes Disease

Sleem, Bshara; Abdul Khalek, Jad; Kanbar, Karim; Bitar, Elio; Castaneda, Pablo; Masrouha, Karim
» Multifactorial Pathogenesis: Legg-Calvé-Perthes disease (LCPD) may result from a complex interplay of genetic, epigenetic, and environmental factors, culminating in avascular necrosis of the femoral head in children aged 4 to 10 years.» Genetic Contributions: Mutations in COL2A1 weaken cartilage integrity, and polymorphisms in IL6 drive inflammatory responses, exacerbating bone resorption and necrosis.» Role of Epigenetics: Epigenetic mechanisms, such as altered DNA methylation and miRNA dysregulation, may modulate disease progression by linking genetic susceptibility to environmental influences.» Environmental Amplifiers: Key environmental risk factors, including maternal smoking, low birth weight, and socioeconomic deprivation, may exacerbate the genetic and epigenetic predisposition to LCPD.» Future Directions: Advancements in genetic screening and epigenetic therapies, such as miRNA modulators and DNA methylation inhibitors, combined with preventive measures like improved prenatal care and reduced smoke exposure, may offer promising avenues for optimizing outcomes in LCPD.
PMID: 40130954
ISSN: 2329-9185
CID: 5815022

Incidence of Upper Extremity Neuropathies at a Single Tertiary Care Institution in the United States: Trends in Recent Years, Including the COVID-19 Pandemic

Faust, Taylor F; Donnelly, Megan R; Habibi, Akram; Castaneda, Pablo
OBJECTIVE:This study examined trends in upper extremity (UE) neuropathies at a large urban tertiary care center in the Northeastern United States over the past five years, including the period of the COVID-19 pandemic. METHOD/METHODS:A retrospective medical record review was conducted from 2018 to 2022. We collected data from unique patient records identified using International Classification of Diseases, Tenth Revision (ICD-10) codes for UE neuropathies. We characterized subjects by age, demographics, and duration of symptoms.  Results: This study included 288 pediatric patients and 51,997 adult patients newly diagnosed with UE neuropathy. Most patients were aged 55+; 0.4% of all patients diagnosed with UE neuropathy were children. Across all ages, there was an overall increase in UE neuropathy diagnoses in the past five years, with the most noticeable increases from 2018 to 2019 (+5,761 diagnosed individuals, or +122%) and from 2020 to 2021 (+2,769 diagnosed individuals, or +28.8%). CONCLUSION/CONCLUSIONS:Our institution's UE neuropathy diagnoses have increased in the past five years. Of note, there was a significantly increased rate of UE neuropathy diagnoses from 2020 to 2021. This increase coincides with the COVID-19 pandemic, which is leading to a changing environment for many Americans. These societal changes will likely become indelible after the pandemic; safety practices should be enacted to avoid these debilitating neuropathies.
PMCID:11214876
PMID: 38953075
ISSN: 2168-8184
CID: 5732692

What Are the Rate and Risk Factors for Developing a Complication With the Pavlik Method for the Treatment of Hip Dysplasia?

Masrouha, Karim; Gibon, Emmanuel; Roof, Mackenzie A; Castañeda, Pablo
BACKGROUND:The Pavlik method for the treatment of developmental dysplasia of the hip (DDH) has been proven successful for over 85 years. The high success rate and reproducibility have made it the mainstay of treatment. METHODS:We performed a retrospective cohort study of patients with DDH treated with the Pavlik method between September 2016 and August 2018 with at least 24 months of follow up in a single academic center. We excluded patients with neuromuscular conditions, teratologic dislocations, and arthrogryposis. We identified and included a total of 307 patients in the analysis. There were 66 patients with dysplasia, 97 with instability, and 144 with a dislocation. Data collected included age at initiation of the Pavlik method, diagnosis (isolated dysplasia, subluxation, or dislocation), duration of treatment, follow up duration and any complication. At final follow up, anteroposterior radiographs of the pelvis were used to determine the Severin classification. RESULTS:Major complications were proximal femoral growth disturbance (5.8%) and femoral nerve palsy (0.98%). Multivariate analysis showed that an initial diagnosis of a dislocated hip (odds ratio, 2.20; P<0.01), was significantly associated with developing a complication. At final follow up, we found Severin type I or II radiographic findings in 100% of patients with dysplasia, 95% of patients with instability and 54% of patients with dislocation (P=0.001). CONCLUSIONS:Complications are not entirely uncommon when the Pavlik method is used for the treatment of DDH. The overall rate of major complications was 7%. The Pavlik method is safe, and independent risk factors for complications were being over 5 months of age and having a dislocated hip at initial presentation. LEVEL OF EVIDENCE/METHODS:Level IV-cohort study.
PMID: 34534158
ISSN: 1539-2570
CID: 5043452

Point-of-Care Ultrasound Reduces Visit Time and Cost of Care for Infants with Developmental Dysplasia of the Hip

Herrero, Christina; Colon, Yhan; Nagapurkar, Akash; Castañeda, Pablo
Background/UNASSIGNED:Healthcare institutions and policymakers are searching for system-wide approaches to reduce costs while maintaining quality and improving patient outcomes. In most healthcare systems infants referred for the detecting or treating developmental dysplasia of the hip (DDH) are sent to a radiology department for sonographic evaluation. The total duration of visit and cost of visit are essential variables in any healthcare setting and affect both efficiency and "the bottom line". By having the treating clinician perform point-of-care ultrasound (POCUS) for the detection and follow-up of patients with DDH, we hypothesize that there would be a significant reduction in the time spent on the visit and the cost incurred without compromising quality or patient satisfaction. To our knowledge, no prior study has examined the effect of incorporating POCUS on the duration and cost of the visit in patients with DDH. Purpose/UNASSIGNED:To determine if there was a difference in the duration of the visit for patients with DDH when POCUS was performed compared to when traditional "formal" sonography was performed. To determine if there was a difference in the cost of the visit for patients with DDH when POCUS was performed compared to when traditional "formal" sonography was performed. Methods/UNASSIGNED:Data for visits to a specialized outpatient office were collected over two years at a single-specialty orthopedic hospital, comparing the duration and cost of the visit between patient encounters for infants who had "formal" sonograms performed in the radiology suite to infants who underwent POCUS of the hip. In all, we included 532 patient encounters, 326 patients had POCUS performed, and 206 had a "formal" ultrasonographic evaluation performed. Of these, 140 were new evaluations and 392 were follow-up evaluations for treatment. Of the 140 new patients, 80 were in the POCUS group, and 60 were in the "formal" US group. Of the 392 follow-ups, 246 were in the POCUS group, and 146 were in the "formal" US group. Results/UNASSIGNED: = 0.002). Conclusion/UNASSIGNED:Ultimately, our study demonstrated a statistically significant reduction in the duration and cost of a patient encounter for infants with DDH when they undergo POCUS rather than "formal" sonographic evaluation.
PMCID:8525063
PMID: 34690359
ISSN: 0019-5413
CID: 5042172

Modified Oxford Bone Scores Are Reduced in Patients With Slipped Capital Femoral Epiphysis Compared With Healthy Controls

Pflug, Emily M; Herrero, Christina; Zhong, Jack R; Castañeda, Pablo
BACKGROUND:The etiology and pathogenesis of slipped capital femoral epiphysis (SCFE) are attributable to abnormalities of the proximal femoral epiphysis. This study aimed to examine if there is a difference in the bone age of patients diagnosed with SCFE compared with patients without hip pathology. METHODS:We identified a consecutive series of patients treated for SCFE between December 2012 and December 2019 from a departmental database. Retrospective chart review was performed to collect demographic information and patient medical history. We then obtained a control group of statistically similar patients based on age and sex. These patients did not have hip pathology or medical comorbidities that could alter their bone age. The modified Oxford bone score (mOBS) was calculated for both groups by 3 blinded reviewers. We excluded patients with unstable slips, endocrine disorders, and inadequate imaging. RESULTS:We identified 60 patients with stable idiopathic SCFE during the study period; 45 met inclusion criteria and were included in the final analysis. There were 27 males and 18 females. The average age of patients with SCFE was higher in males than females (12.6 vs. 11.1, P<0.01). Patients in the comparison cohort did not differ significantly from the SCFE cohort in terms of age (11.6 vs. 12.0, P=0.06) or sex (P=0.52). The comparison group's median mOBS was significantly higher than the SCFE group (22.5 vs. 20.5, P<0.01). The difference in the mOBS between male and female patients in the SCFE group approached significance (20.0 vs. 21.0, P=0.05). The weighted κ coefficient was 0.93. CONCLUSIONS:Patients with SCFE have a decreased bone age compared with patients without hip pathology. Male patients with SCFE were more likely to be older compared with female patients. LEVEL OF EVIDENCE/METHODS:Level IV-retrospective study.
PMID: 34091558
ISSN: 1539-2570
CID: 4924512

What is the Interobserver Reliability of an Ultrasound-enhanced Physical Examination of the Hip in Infants? A Prospective Study on the Ease of Acquiring Skills to Diagnose Hip Dysplasia

Jejurikar, Neha; Moscona-Mishy, León; Rubio, Mónica; Cavallaro, Romina; Castañeda, Pablo
BACKGROUND:Developmental dysplasia of the hip (DDH) is the most common disorder found in newborns. The consequences of DDH can be mitigated with early diagnosis and nonoperative treatment, but existing approaches do not address the current training deficit in making an early diagnosis. QUESTION/PURPOSE:Can ultrasound be taught to and used reliably by different providers to identify DDH in neonates? METHODS:This was a prospective observational study of a series of neonates referred for an evaluation of their hips. An experienced clinician trained three second examiners (a pediatric orthopaedic surgeon, an orthopaedic resident, and a pediatrician) in performing an ultrasound-enhanced physical examination. The 2-hour training process included video and clinical didactic sessions aimed to teach examiners to differentiate between stable and unstable hips in newborns using ultrasound. The experienced clinician was a pediatric orthopaedic surgeon who uses ultrasound regularly in clinical practice. Materials required for training include one ultrasound device. A total of 227 infants (454 hips) were examined by one of the three second examiners and the experienced clinician (gold standard) to assess reliability. Of the 454 hips reviewed, there were 18 dislocations, 24 unstable hips, and 63 dysplastic hips, and the remainder had normal findings. The cohort was composed of a series of patients younger than 6 months referred to a specialty pediatric orthopaedic practice. RESULTS:Ultrasound-enhanced physical examination of the hip was easily taught, and the results were reliable among different levels of providers. The intraclass correlation coefficient between the gold-standard examiner and the other examiners for all hips was 0.915 (p = 0.001). When adjusting for only the binary outcome of normal versus abnormal hips, the intraclass correlation coefficient was 0.97 (p = 0.001). Thus, the agreement between learners and the experienced examiner was very high after learners completed the course. CONCLUSION:After a 2-hour course, physicians were able to understand and reliably examine neonatal children using ultrasound to assess for DDH. The success of the didactic approach outlined in this study supports the need for ultrasound-enhanced examination training for the diagnosis of DDH in orthopaedic surgery and pediatric residency core curriculums. Training programs would best be supported through established residency programs. Expansion of training more residents in the use of ultrasound-enhanced physical examinations would require a study to determine its efficacy. This finding highlights the need for further research in implementing ultrasound-enhanced physical examinations on a broader scale. LEVEL OF EVIDENCE:Level II, diagnostic study.
PMID: 34351316
ISSN: 1528-1132
CID: 5039672

Has There Been a Change in the Age of Presentation of Patients With DDH After the Implementation of a Dedicated Ultrasound-screening Program?

Roof, Mackenzie A; Gibon, Emmanuel; Rios-Ruíz, Gilberto; Castañeda, Pablo
BACKGROUND:We sought to determine if the age of patients presenting to a tertiary subspecialty hospital dedicated to pediatric orthopaedics has changed over the last 21 years and determine if a dedicated ultrasound-screening program implemented in 2006 made any difference. METHODS:We reviewed the hospital charts for 9299 patients diagnosed with developmental dysplasia of the hip (DDH) and determined the age at the time of presentation; this was a consecutive series of all patients presenting between 1998 and 2019. We determined the diagnosis and age from the chart, 8011 were female (86.15%), and 1288 were male (13.85%). The left hip was affected in 4588 cases (49.34%), the right hip in 1824 cases (19.62%), and there were 2887 bilateral cases (31.05%). RESULTS:Over the 21 years, the mean age of presentation was 2.36 years (range, 0.1 to 17 y). In 1998, the mean age was 2.49 years (range, 0.1 to 16 y). In 2006, a dedicated ultrasound-screening clinic was instituted. The mean age decreased to 1.70 years in 2019 (range, 0.1 to 14 y). The mean age at presentation decreased significantly from 2.65 years, between 1998 and 2005, to 2.19 between 2006 and 2019 (P=0.0067). CONCLUSIONS:The implementation of a dedicated ultrasound-screening protocol was significantly correlated with a decrease in the mean age of diagnosis of DDH. The results of treatment of DDH are known to be better the sooner the diagnosis is made. Given that the age of presentation remains a challenge, especially in developing countries, a dedicated ultrasound-screening program is one step to improve our ability to detect DDH in patients at a younger age. LEVEL OF EVIDENCE/METHODS:Level IV-diagnostic.
PMID: 34091556
ISSN: 1539-2570
CID: 4924502

Is There a Benefit to Weaning Pavlik Harness Treatment in Infantile DDH?

Bram, Joshua T; Gohel, Shivani; Castañeda, Pablo G; Sankar, Wudbhav N
BACKGROUND:Following successful treatment of developmental hip dysplasia with a Pavlik harness, controversy exists over the benefit of continued harness use for an additional "weaning" period beyond ultrasonographic normalization versus simply terminating treatment. Although practitioners are often dogmatic in their beliefs, there is little literature to support the superiority of 1 protocol over the other. The purpose of this study was to compare the radiographic outcomes of 2 cohorts of infants with developmental hip dysplasia treated with Pavlik harness, 1 with a weaning protocol and 1 without. METHODS:This was a comparative review of patients with dislocated/reducible hips and stable dysplasia from 2 centers. All patients had pretreatment ultrasounds, and all started harness treatment before 3 months of age. On the basis of power analysis, a sufficient cohort of hips were matched based on clinical examination, age at initiation, initial α angle, and initial percent femoral head coverage. Patients from institution W (weaned) were weaned following ultrasonographic normalization, whereas those from institution NW (not weaned) immediately ceased treatment. The primary outcome was the acetabular index at 1 year of age. RESULTS:In total, 16 dislocated/reducible and 16 stable dysplastic hips were matched at each center (64 total hips in 53 patients). Initial α angle and initial femoral head coverage were not different between cohorts for either stable dysplasia (P=0.59, 0.81) or dislocated/reducible hips (P=0.67, 0.70), respectively. As expected, weaned hips were treated for significantly longer in both the stable dysplasia (1540.4 vs. 1066.3 h, P<0.01), and dislocated/reducible cohorts (1596.6 vs. 1362.5 h, P=0.01). Despite this, we found no significant difference in the acetabular index at 1 year in either cohort (22.8 vs. 23.1 degrees, P=0.84 for stable dysplasia; 23.9 vs. 24.8 degrees, P=0.32 for Ortolani positive). CONCLUSIONS:Despite greater total harness time, infants treated with additional Pavlik weaning did not demonstrate significantly different radiographic results at 1 year of age compared with those who were not weaned. However, differences in follow-up protocols between centers support the need for a more rigorous randomized controlled trial. LEVEL OF EVIDENCE/METHODS:Level III.
PMID: 33448722
ISSN: 1539-2570
CID: 4799262

A History of Eponyms in Traction Apophysitises

Bi, Andrew S; Castañeda, Pablo G
Traction apophysitises are a well-known entity in the orthopedic world that are generally thought of as conditions of the pediatric population secondary to overuse and repetitive microtrauma. Many have been named for their original descriptors, and therefore the purpose of this review is to highlight the backgrounds of these physicians, pay tribute to those who came before, and standardize the definitions of these oft-used eponyms. Iselin's disease, Little League Elbow, Osgood-Schlatter disease, Sever's disease, and Sinding-Larsen-Johansson disease will be discussed in brief, followed by a historical background presenting the original description of the named author as well as a short biography. A particular focus on imaging findings will be presented, from original roentgenographs to current modalities of both ultrasonography and magnetic resonance imaging.
PMID: 34605759
ISSN: 2328-5273
CID: 5045842

Early Experience with Virtual Pediatric Orthopedics in New York CityPearls for Incorporating Telemedicine into Your Practice

Carter, Cordelia W.; Herrero, Christina P.; Bloom, David A.; Karamitopoulos, Mara; Castañeda, Pablo G.
BACKGROUND:The purpose of this study was to identify and characterize challenges and benefits to the use of tele-medicine for the treatment of pediatric orthopedic patients during and after the COVID-19 pandemic. METHODS:A novel survey was sent to all faculty members at an academic pediatric orthopedic practice in New York City regarding their use of telemedicine in response to the COVID-19 pandemic. RESULTS:Faculty members performed 227 unique tele-health visits with pediatric orthopedic patients over a 7-week period in early 2020, and this formed the basis for responses to the survey. The results of the faculty survey suggest that telemedicine has substantial clinical benefits for pediatric orthopedic surgeons and our patients that extend beyond the COVID-19 pandemic. Providers recognize the limits of conducting physical exams over telemedicine and should always use clinical judgment when evaluating patients, par-ticularly trauma patients who may require prompt referral for additional care. CONCLUSIONS:The ability to provide pediatric orthopedic care through telemedicine has allowed us to safely evaluate and treat pediatric patients with musculoskeletal problems in New York City and its environs despite the COVID-19 pandemic. The efficient evaluation of both new and exist-ing pediatric orthopedic patients via telehealth is viable. Physical examination is the most challenging aspect of the physician-patient encounter to replicate virtually. Targeted educational efforts for patients and their families before the visit about what to expect and how to prepare improves efficiency with virtual pediatric orthopedic visits. Efforts to limit disparities in access to telemedicine will be needed to allow all pediatric orthopedic patients to participate in telemedicine equitably.
PMID: 33207144
ISSN: 2328-5273
CID: 4730512