The fifty most cited Latin-American articles in the orthopaedic literature

Purpose

The number of citations of an article is a marker of its academic influence. Several medical specialties, including orthopaedics, have ranked the articles with more citations. We identified the 50 most cited orthopaedic articles from Latin-America and analyzed the characteristics that made them citable.

Methods

Science Citation Index Expanded was searched for citations of articles originated in Latin-America, published in any of the 63 journals in the category “Orthopaedics” from 1988 to 2013. We created a list ranking the 50 most commonly cited articles and determined the citation density (Citations/years since publication). Information noted for each article included authors, year of publication, country of origin, source journal, article type, and field of research.

Results

Latin-American countries were the origin of 1 % of orthopaedic articles. The top 50 most cited articles had between 29 and 150 citations (mean, 44.48); the citation density ranged from 1.43 to 15.5 citations/years (mean, 5.25). The articles were published in 19 of the 63 journals (11 general and eight sub-specialty journals), and all were published in English. Most articles (n = 29) were published in 2000 or later. The majority were clinical articles (n=40), and the most common fields were arthroscopy (n = 15) and hip surgery (n = 13). The top 50 articles originated mainly from Brazil (n = 20) and Argentina (n = 15).

Conclusions

This top 50 list displays articles that have become important references for the orthopaedic scientific community. Researchers may use this work to make their future publications more influential on future investigators.     

An Analysis of References Used for the Orthopaedic In-Training Examination: What are Their Levels of Evidence and Journal Impact Factors?

Background

Although the references recommended for the Orthopaedic In-Training Examination (OITE) have been evaluated in certain subspecialty domains, suggested reference level of evidence (LOE), impact factor, and citation age have not been evaluated comprehensively to our knowledge.

Questions/purposes

We present an analysis of all references cited in the OITE recommended readings for each test question including the duration of time between their initial publication and their use in the OITE, which we defined as citation age, LOE, and the impact factor of the journals referenced.

Methods

We evaluated all references for the 2010 to 2012 OITE administrations (three examinations; 825 questions total). Publication characteristics, including citation age, were noted. The LOE for each journal article and the impact factor of each journal were determined; differences in LOE and impact factor were compared between test sections. A total of 1817 references were cited in the 825 questions we evaluated; this denominator was used in all calculations that follow.

Results

The recommended reading references included 1337 journal article references (74%), 469 text references (26%), and 11 multimedia sources (0.6%; eg, websites, instructional DVDs). The three most commonly recommended journals were general orthopaedic journals, TheJournal of Bone and Joint Surgery (American Volume), Journal of American Academy of Orthopaedic Surgeons, and Clinical Orthopaedics and Related Research^®. The majority (72.2%) of the cited journal references were published within 10 years of the test date, with a mean ± SD citation age of 8.3 ± 7.4 years. The majority of the cited journal articles were Levels IV and V evidence (mean, 4.16 ± 1.1). The Spine section had higher LOE (3.74; p < 0.001), although the practical relevance of such a difference is questionable, as all but two sections’ LOE rounded to Level IV evidence. The Spine and Basic Science sections were published in journals with a larger mean impact factor (Basic Science, 7.16 ± 12.67; Spine, 5.73 ± 12.08; p < 0.001).

Conclusions

Our data show that the majority of the recommended readings for the OITE stem from higher impact general orthopaedic and major subspecialty journals. Furthermore the observed mean LOE of the recommended readings shows a preponderance of Levels IV and V research. These data may suggest that test-takers may find benefit in the review of high-level general orthopaedic journals, and review articles in particular while preparing for the OITE, although further study is necessary to determine optimal test preparation strategies. Finally, our study provides a baseline analysis of the study designs of OITE recommended references, and may provide insight for educators designing resident educational curricula.

Electronic supplementary material

The online version of this article (doi:10.1007/s11999-014-3895-0) contains supplementary material, which is available to authorized users.     

The 50 Most-cited Articles in Orthopaedic Surgery From Mainland China

Background

Citation analysis has been widely used to evaluate the impact of articles in medical and surgical specialties. Although China is the most populous country in the world, and although more than 50,000 orthopaedic surgeons practice there, to our knowledge no formal citation analysis of Chinese orthopaedic articles has been performed.

Questions/purposes

We identified the 50 most-cited orthopaedic articles from mainland China and evaluated these articles in terms of their language of publication, source journals, and topics.

Methods

Science Citation Index Expanded was searched in July 31, 2014 for citations of articles published in 70 selected journals since the inception of the database. The 50 most-cited orthopaedic articles originating in mainland China were identified. Basic information, including title, authors, year of publication, article type, journal in which the work was published, city, institution, number of citations, decade published, and topic or subspecialty of the research were recorded.

Results

The number of citations for the top 50 papers ranged from 181 to 31 (mean, 52). These articles were published between 1981 and 2010. The decade of 2000 to 2009 was the most prolific, with 36 of the top 50 articles published during this time. All articles were written in English and they were published in a total of 16 journals. The journal Spine published the largest number of articles (12), followed by Clinical Orthopaedics and Related Research^® (seven). The journal Lancet had the highest impact factor (39.207 for 2013) among any of the journals that published articles we identified. The top 50 articles originated mainly from Beijing (16) and Shanghai (12), with basic research being the focus of the majority (27 of 50; 54%); the remaining were clinical studies. Bone was the most-investigated topic in basic research; the spine was the most-common topic among the identified clinical studies.

Conclusions

The 50 most-cited articles that we identified should be considered influential, although a large gap remains between mainland China and the global orthopaedic community in terms of citations per article. Nevertheless, insofar as the most-recent decade of our survey generated the most articles in this top-50 list, we would characterize mainland China’s effect on musculoskeletal research as increasing, and as funding increases to programs in mainland China, we anticipate this trend will continue in the future.     

Have Levels of Evidence Improved the Quality of Orthopaedic Research?

Background

Since 2003 many orthopaedic journals have adopted grading systems for levels of evidence (LOE). It is unclear if the quality of orthopaedic literature has changed since LOE was introduced.

Questions/purposes

We asked three questions: (1) Have the overall number and proportion of Level I and II studies increased in the orthopaedic literature since the introduction of LOE? (2) Is a similar pattern seen in individual orthopaedic subspecialty journals? (3) What is the interobserver reliability of grading LOE?

Methods

We assigned LOE to therapeutic studies published in 2000, 2005, and 2010 in eight major orthopaedic subspecialty journals. Number and proportion of Level I and II publications were determined. Data were evaluated using log-linear models. Twenty-six reviewers (13 residents and 13 attendings) graded LOE of 20 blinded therapeutic articles from the Journal of Bone and Joint Surgery for 2009. Interobserver agreement relative to the Journal of Bone and Joint Surgery was assessed using a weighted kappa.

Results

The total number of Level I and II publications in subspecialty journals increased from 150 in 2000 to 239 in 2010. The proportion of high-quality publications increased with time (p < 0.001). All subspecialty journals other than the Journal of Pediatric Orthopaedics and the Journal of Orthopaedic Trauma showed a similar behavior. Average weighted kappa was 0.791 for residents and 0.842 for faculty (p = 0.209).

Conclusions

The number and proportion of Level I and II publications have increased. LOE can be graded reliably with high interobserver agreement. The number and proportion of high-level studies should continue to increase.     

Characteristics and Trends of Orthopedic Publications between 2000 and 2009

Background

This study was undertaken to investigate the trends of orthopedic publications during the last decade, and to document the country of origin, journal, funding source, and language of contribution using PubMed.

Methods

Orthopedic articles published between 2000 and 2009 were retrieved from PubMed using the following search terms: "orthopaedic[Affiliation] AND ("2000/1/1"[PDAT]: "2009/12/31"[PDAT])" and "orthopedic[Affiliation] AND ("2000/1/1"[PDAT]: "2009/12/31"[PDAT])." The articles were downloaded in XML file format, which contained the following information: article title, author names, journal names, publication dates, article types, languages, authors'' affiliations and funding sources. These information was extracted, sorted, and rearranged using the database''s management software. We investigated the annual number of published orthopedic articles worldwide and the annual rate of increase. Furthermore, the country of publication origin, journal, funding source, and language of contribution were also investigated.

Results

A total of 46,322 orthopedic articles were published and registered in PubMed in the last 10 years. The worldwide number of published orthopedic articles increased from 2,889 in 2000 to 6,909 in 2009, showing an annual increase of 384.6 articles, or an annualized compound rate of 10.2%. The United States ranked highest in the number of published orthopedic articles, followed by Japan, the United Kingdom, Germany, and the Republic of Korea. Among the orthopedic articles published worldwide during the last 10 years, 37.9% pertained studies performed in the United States. Fifty-seven point three percent (57.3%) of articles were published in journals established in the United States. Among the published orthopaedic articles, 4,747 articles (10.2%) disclosed financial support by research funds, of which 4,688 (98.8%) articles utilized research funds from the United States. Most articles were published in English (97.2%, 45,030 articles).

Conclusions

The number of published orthopedic articles has been increasing over the last decade. The number of orthopedic articles, journals publication, and funding sources were dominated by research conducted in the United States, while share and growth of Asian countries including Japan, the Republic of Korea, and China were notable.     

Impact factors of orthopaedic journals between 2000 and 2010: trends and comparisons with other surgical specialties

Purpose

The impact factors (IF) of orthopaedic journals is an important component in determining the future of orthopaedic research funding. We aim to characterise the trend in journal IF over the last decade and draw comparisons with other surgical specialties.

Methods

We conducted an analysis of impact factors from Journal Citation Reports between 2000 and 2010.

Results

Between 2000 and 2010 the number of orthopaedic journals increased from 24 to 41, more than any other surgical specialty and the mean IF increased from 0.842 to 1.400. Journals printed in the English language had a significantly higher IF in the year 2010 (1.64 vs. 0.33, p = 0.01) than those printed in other languages. English language journals published in the US had significantly higher mean 2010 IF (1.932 vs. 1.243, p = 0.025) than those published in Europe, and this had changed compared with 2000 mean IF (0.978 Vs. 0.704, p = 0.360). Orthopaedics was ranked sixth out of 11 surgical subspecialties in 2000 but dropped to seventh out of 11 in 2010.

Conclusions

The quality of orthopaedic journals has significantly increased over the last decade and this has been accompanied by a rise in mean IF. It is important that orthopaedics continues to improve the quality of research, which may help orthopaedic researchers secure funding in the future.     

Analysis of Orthopaedic Research Produced During the Wars in Iraq and Afghanistan

Background

Military orthopaedic surgeons have published a substantial amount of original research based on our care of combat-wounded service members and related studies during the wars in Iraq and Afghanistan. However, to our knowledge, the influence of this body of work has not been evaluated bibliometrically, and doing so is important to determine the modern impact of combat casualty research in the wider medical community.

Questions/purposes

We sought to identify the 20 most commonly cited works from military surgeons published during the Iraq and Afghanistan conflicts and analyze them to answer the following questions: (1) What were the subject areas of these 20 articles and what was the 2013 Impact Factor of each journal that published them? (2) How many citations did they receive and what were the characteristics of the journals that cited them? (3) Do the citation analysis results obtained from Google Scholar mirror the results obtained from Thompson-Reuters’ Web of Science?

Methods

We searched the Web of Science Citation Index Expanded for relevant original research performed by US military orthopaedic surgeons related to Operation Iraqi Freedom and Operation Enduring Freedom between 2001 and 2014. Articles citing these studies were reviewed using both Web of Science and Google Scholar data. The 20 most cited articles meeting inclusion criteria were identified and analyzed by content domain, frequency of citation, and sources in which they were cited.

Results

Nine of these studies examined the epidemiology and outcome of combat injury. Six studies dealt with wound management, wound dehiscence, and formation of heterotopic ossification. Five studies examined infectious complications of combat trauma. The median number of citations garnered by these 20 articles was 41 (range, 28–264) in Web of Science. Other research citing these studies has appeared in 279 different journals, covering 26 different medical and surgical subspecialties, from authors in 31 different countries. Google Scholar contained 97% of the Web of Science citations, but also had 31 duplicate entries and 29 citations with defective links.

Conclusions

Modern combat casualty research by military orthopaedic surgeons is widely cited by researchers in a diverse range of subspecialties and geographic locales. This suggests that the military continues to be a source of innovation that is broadly applicable to civilian medical and surgical practice and should encourage expansion of military-civilian collaboration to maximize the utility of the knowledge gained in the treatment of war trauma.

Level of Evidence

Level IV, therapeutic study.     

Representation of developing countries in orthopaedic journals: a survey of four influential orthopaedic journals

Background

The developing world contains more than ¾ of the world’s population, and has the largest burden of musculoskeletal disease. Published studies provide crucial information that can influence healthcare policies. Presumably much information regarding burden in the developing world would arise from authors from developing countries. However, the extent of participation of authors from the developing world in widely read orthopaedic journals is unclear.

Purpose

We surveyed four influential English-language orthopaedic journals to document the contributions of authors from developing countries.

Methods

We surveyed Clinical Orthopaedics and Related Research, Journal of Orthopaedic Trauma, and the American and British volumes of The Journal of Bone and Joint Surgery, from May 2007 through May 2010. The country of origin of all authors was identified. We used the designations provided by the International Monetary Fund to define countries as either developed or developing.

Results

Two hundred sixty-five of 3964 publications (7%) included authors from developing countries. Ninety percent of these had authors from developing countries with industrialized and emerging-market economies. Publications from Sub-Saharan Africa accounted for only 0.4% of the 3964 articles reviewed and 5.6% of the 265 articles with developing world authorship. Countries with the least robust economies were least represented. Less than 1/3 of articles with authors from the developing world had coauthors from developed or other developing countries.

Conclusion

Additional studies are needed to determine the reasons for the low representation noted and to establish strategies to increase the number of orthopaedic publications from parts of the world where the burden of musculoskeletal disease is the greatest.     

Evidence-based surgery--evidence from survey and citation analysis in orthopaedic surgery

INTRODUCTION

The results of a survey on evidence-based surgery (EBS) among members of the American Academy of Orthopedic Surgeons (AAOS) and the British Orthopaedic Association (BOA) are presented. The study also analyzes the citations earned by articles with different levels of evidence (LOE) to see if LOE have any bearing on the importance attached to the articles by authors and contributors to the journals.

SUBJECTS AND METHODS

The questionnaire was e-mailed to 1000 randomly chosen consultant orthopaedic surgeons who were members of either the AAOS or the BOA. Participants were provided with the option of responding through web-based entry. For citation analysis, citation data were gathered from the Journal of Bone and Joint Surgery (American volume) between the years 2003 and 2007 (5-year period).

RESULTS

The survey showed that awareness and access to EBS have improved greatly over the years. At the present time, these factors are not important barriers to the implementation of EBS in clinical practice in developed countries. There was a statistically significant difference in those with and without additional qualifications with regard to the approach to EBS. However, an equal percentage of surgeons with and without additional qualifications felt that it was difficult to adhere to EBS guidelines in daily clinical practice. Citation analysis showed that readers of professional journals attach importance to LOE category of the article and tend to cite level-I evidence articles more than other articles.     

The use and abuse of abbreviations in orthopaedic literature

INTRODUCTION

Abbreviations are commonly used in medical literature. Their use has been associated with medical errors and they can be a source of irritation and misunderstanding. There are strict guidelines for their use. This study analysed the use of abbreviations in orthopaedic literature and compared adherence with guidelines in a general orthopaedic and spinal journal. It also examined orthopaedic professionals& understanding of abbreviations.

SUBJECTS AND METHODS

The use of abbreviations in articles over a 3-month period in a general orthopaedic and spinal journal was analysed. The number of abbreviations and adherence with guidelines was recorded. A group of orthopaedic healthcare professionals were tested for their understanding of abbreviations.

RESULTS

Almost half of all abbreviations were not properly used and 30% of abbreviations were never defined. Abbreviations were used significantly more often in the spinal journal. Only 40% of abbreviations were correctly defined by the orthopaedic professionals tested.

CONCLUSIONS

Guidelines regarding the use of abbreviations are not being adhered to by authors or editors. The poor understanding of abbreviations underlines the importance of minimising their use and defining abbreviations when they are used.     

Are the claims made in orthopaedic print advertisements valid?

Purpose

Advertisements are commonplace in orthopaedic journals and may influence the readership with claims of clinical and scientific fact. Since the last assessment of the claims made in orthopaedic print advertisements ten years ago, there have been legislative changes and media scrutiny which have shaped this practice. The purpose of this study is to re-evaluate these claims.

Methods

Fifty claims from 50 advertisements were chosen randomly from six highly respected peer-reviewed orthopaedic journals (published July–December 2011). The evidence supporting each claim was assessed and validated by three orthopaedic surgeons. The assessors, blinded to product and company, rated the evidence and answered the following questions: Does the evidence as presented support the claim made in the advertisement and what is the quality of that evidence? Is the claim supported by enough evidence to influence your own clinical practice?

Results

Twenty-eight claims cited evidence from published literature, four from public presentations, 11 from manufacturer "data held on file" and seven had no supporting evidence. Only 12 claims were considered to have high-quality evidence and only 11 were considered well supported. A strong correlation was seen between the quality of evidence and strength of support (Spearman r = 0.945, p < 0.0001). The average ICC between the assessors’ ratings was strong (r = 0.85) giving validity to the results.

Conclusion

Orthopaedic surgeons must remain sceptical about the claims made in print advertisements. High-quality evidence is required by orthopaedic surgeons to influence clinical practice and this evidence should be sought by manufacturers wishing to market a successful product.     

High-impact articles in hand surgery

Background

There have been few attempts to identify classic papers within the hand surgery literature. This study used citation analysis to identify and characterize the top 50 highly cited hand surgery articles published in six peer-reviewed journals.

Methods

The 50 most highly cited hand surgery articles were identified in the Journal of Bone and Joint Surgery (JBJS) American, JBJS British, Plastic and Reconstructive Surgery, Journal of Hand Surgery (JHS) American, JHS British/European, and Hand. Articles were evaluated for citations per year, surgical/anatomical topic, and type of study. Clinical studies were further sub-categorized by level of evidence. The distribution of topics was compared with all indexed hand surgery articles. The educational relevance was assessed via comparison with lists of “classic” papers.

Results

The most common subjects were distal radius fracture, carpal tunnel syndrome, and flexor tendon repair. There was moderate correlation between the distribution of these topics and all indexed hand surgery articles (rho = 0.71). There were 31 clinical studies, of which 16 were therapeutic, ten were prognostic, and five were diagnostic. These articles assessed the outcomes of an intervention, described an anatomical/functional observation, introduced an innovation, presented a discovery/classification, or validated a questionnaire. There were only three randomized trials. Using citations per year to control for the influence of time since publication, 36 articles were consistently highly cited. Twenty-three articles were on Stern’s Selected Readings in Hand Surgery, considered important in education.

Conclusions

The top 50 highly cited articles in hand surgery reflect the most common clinical, scientific, and educational efforts of the field.     

Risk factors for post-traumatic osteoarthritis of the ankle: an eighteen year follow-up study

Purpose

Long-term studies evaluating risk factors for development of ankle osteoarthritis (OA) following malleolar fractures are sparse.

Methods

We conducted a retrospective cohort study including consecutive patients treated by open reduction and internal fixation for malleolar fracture between January 1988 and December 1997. Perioperative information was obtained retrospectively. Patients were evaluated clinically and radiographically 12–22 years postoperatively. Radiographic ankle OA was determined on standardised radiographs using the Kellgren and Lawrence scale (grade 3–4 = advanced OA). Uni- and multivariate regression analyses were performed to determine risk factors for OA.

Results

During the inclusion period, 373 fractures (372 patients; 9% Weber A, 58% Weber B, 33% Weber C) were operated upon. The mean age at operation was 42.9 years. There were 102 patients seen at follow-up (mean follow-up 17.9 years). Those not available did not differ in demographics and fracture type from those seen. Advanced radiographic OA was present in 37 patients (36.3%). Significant risk factors were: Weber C fracture, associated medial malleolar fracture, fracture-dislocation, increasing body mass index, age 30 years or more and length of time since surgery.

Conclusions

Advanced radiographic OA was common 12–22 years after malleolar fracture. The probability of developing post-traumatic OA among patients having three or more risk factors was 60–70%.     

Association analysis of two candidate polymorphisms in the Tumour Necrosis Factor-α gene with osteoarthritis in a Chinese population

Purpose

The purpose of this study was to investigate the possible association between single nucleotide polymorphisms (SNPs) rs1800629 (TNF-α -308) and rs361525 (TNF-α -238) of the tumour necrosis factor (TNF)-α gene and susceptibility to osteoarthritis (OA) in the Han Chinese population.

Methods

The TNF-α -308 and -238 genotypes were determined by TaqMan assay in 200 OA cases and 305 controls. Odds ratios (ORs) for OA and 95 % confidence intervals (CIs) from unconditional logistic regression models were used to evaluate relative risks.

Results

The frequencies of the allele ‘A’ of rs1800629 were 16 % and 8.85 % in OA cases and in controls, respectively, and thus the -308A allele had a 1.9612-fold (95 % CI = 1.3323–2.8869, P < 0.001) increased risk for OA as compared to the -308G allele. However, no significant differences were found in the genotype and allele frequencies for rs361525 between OA and HC groups.

Conclusions

In the Han Chinese population, the allele ‘A’ of TNF-α -308 may increase the risk for OA, whereas TNF-α -238 polymorphisms do not play a role in OA patients.     

The Use of Biologic DMARDS Identifies Rheumatoid Arthritis Patients with More Optimistic Expectations of Total Knee Arthroplasty

Background

Preoperative expectations of total knee arthroplasty (TKA) correlate with postsurgical satisfaction, and are linked to outcomes. Rheumatoid arthritis (RA), and other chronic diseases, may lower expectations, although new biologic medications have greatly enhanced patients’ quality of life.

Questions/Purposes

The purpose of this study is to compare preoperative expectations of RA to those of matched osteoarthritis (OA) patients undergoing TKA, and examine the subset of RA on biologic DMARD therapy.

Methods

For a cross-sectional study, RA and OA identified from an institutional TKA registry were matched on age, sex, prior TKA, and preoperative function. Expectations were measured using the Hospital for Special Surgery (HSS) Knee Expectations Survey. Expectations and quality of life measures were assessed preoperatively and scores were compared between RA and OA.

Results

One hundred fourteen RA cases, 46.5% on biologics, were matched to 228 OA cases. The average expectations score was not significantly lower for RA compared to OA (72.9 ± 20.7 vs. 77.2 ± 18.3, p = 0.040. RA on biologics had expectations similar to OA (total expectation score 76.3 ± 18.1 vs. 77.4 ± 17.4, p = 0.71), while RA not on biologics had expectations that were significantly lower (69.9 ± 22.4 vs. 77.1 ± 19.0, p = 0.03).

Conclusion

Use of biologics in RA patients was associated with higher expectations, similar to those of OA patients, but the effect on outcomes is not known. Further studies should assess the effect of higher expectations in RA patients on outcomes.

Electronic supplementary material

The online version of this article (doi:10.1007/s11420-014-9380-1) contains supplementary material, which is available to authorized users.     

What to call spinal cord damage not due to trauma? Implications for literature searching

Objectives

To illustrate the importance of multiple search terms and databases when searching publications on spinal cord damage not due to trauma. To develop comprehensive search filter for this subject, compare the results for 2000–2009 with the Medical Subject Headings (MeSH) and Emtree term ‘spinal cord diseases’ and determine changes in the number of articles over this period.

Design

Literature searches and search filter development.

Setting

Australia.

Interventions

Titles and abstracts searched in MEDLINE and EMBASE (2000–2009) for articles involving humans using search terms ‘non-traumatic spinal cord injury’ and ‘nontraumatic spinal cord injury’ (concise search). Develop comprehensive search filter for ‘spinal cord damage not due to trauma’ and compare the results with the MeSH term ‘spinal cord diseases.’

Outcome measures

Annual publications (2000–2009) identified in MEDLINE and EMBASE literature searches.

Results

Concise search identified 35 articles published during 2000–2009. More publications were identified using the term ‘nontraumatic spinal cord injury’ (n = 20) than ‘non-traumatic spinal cord injury’ (n = 16). Publications increased for both terms ‘spinal cord diseases’ (2000 = 279; 2009 = 415) and ‘spinal cord damage not due to trauma’ identified by the comprehensive search filter (2000 = 1251; 2009 = 1921).

Conclusions

Concise searches using terms ‘non-traumatic spinal cord injury’ and ‘nontraumatic spinal cord injury’ fail to identify relevant articles unless combinations of terms and databases are used. These are inadequate search terms for a comprehensive search. Further research is needed to validate our comprehensive search filter. An international consensus process is required to establish an agreed term for ‘spinal cord damage not due to trauma.’     

Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia

Purpose

Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive lethargy, hypotonia, myoclonic jerks, and early death secondary to respiratory problems. As a result of early diagnosis and treatment protocols, more patients survive the critical neonatal period with profound mental retardation, delayed developmental milestones, seizures, and spasticity. There are no reports about the orthopaedic manifestations of neonatal nonketotic hyperglycinemia. The purpose of this study is to evaluate the musculoskeletal findings of neonatal nonketotic hyperglycinemia.

Methods

This is a retrospective IRB-approved study of all patients in our Orthopaedic and Genetics Clinics with the diagnosis of neonatal nonketotic hyperglycinemia during a 10-year period. Demographic, clinical, and imaging data were analyzed.

Results

Twelve patients with neonatal nonketotic hyperglycinemia were evaluated, with a mean age of 7 years and 2 months (range: 5 months to 21 years). Seven were male and five were female. Eleven patients (92 %) have evidence of progressive early-onset neuromuscular scoliosis with a mean Cobb angle of 55° (range: 30–95°). Five children (42 %) presented evidence of progressive hip dislocation secondary to spasticity. All the patients have severe multiple joint contractures.

Conclusion

Neonatal nonketotic hyperglycinemia is a rare metabolic disorder presented in the past as a lethal condition. Recent advances in early diagnosis and neonatal care improve overall outcome. As pediatric orthopaedic surgeons, we need to establish treatment based on update information of the disease and probability to improve quality of life.