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Journal of Plastic, Reconstructive &... Mar 2022Different elbow flap reconstructions have been described in the literature. We aim to define the optimal flap technique based on defect size and etiology. (Review)
Review
INTRODUCTION
Different elbow flap reconstructions have been described in the literature. We aim to define the optimal flap technique based on defect size and etiology.
METHODS
A systematic review was undertaken using the terms "(Elbow reconstruction) AND ((Soft tissue) OR (flap))". Flaps were grouped under fasciocutaneous (FCF), muscular (MF), distant pedicled (DPF), and free flaps (FF). The primary outcome was flap survival. The secondary outcomes were postoperative complications and range of motion (pROM).
RESULTS
Twenty articles with 224 patients were included. Defect sizes were small (<10 cm) (18%), medium (10-30 cm) (23%), large (30-100 cm) (43%), and massive (>100 cm) (16%). Etiologies included trauma (26%), burn contractures (26%), infection (26%), hardware coverage (16%), and others (6%). FCF (54%) was the preferred flap followed by MF (28%), DPF (13%), and FF (5%). The rate of flap necrosis was 4% and that of other complications was 10%. The postoperative range of motion (pROM) (reported in 154 patients) was >100°, 50-100°, and <50° in 82%, 17%, and 1% of the cases, respectively. Small defects were most commonly reconstructed with MFs (83%), medium defects were reconstructed with MFs (52%) or FCFs (46%), and large defects were reconstructed with FCFs (91%). Massive defects predominantly required DPFs (60%) and FFs (26%). FCFs were the most common reconstruction method for burn contractures (84%), infections (55%), and traumatic defects (51%). Hardware coverage was predominantly performed using MFs (86%). No difference in complications and pROM was found between flap techniques.
CONCLUSION
Elbow flap reconstruction can be performed using different techniques. FCFs are the most commonly used reconstruction method. MFs are useful for smaller defects and hardware coverage. DPFs and FFs are needed for massive injuries.
Topics: Elbow; Elbow Joint; Free Tissue Flaps; Humans; Plastic Surgery Procedures; Soft Tissue Injuries
PubMed: 34961697
DOI: 10.1016/j.bjps.2021.11.091 -
Orphanet Journal of Rare Diseases Aug 2021Osteomyelitis variolosa is a self-limiting disease triggered by variola virus that cannot be prevented or repaired. Smallpox has been eradicated for 40 years, and... (Review)
Review
BACKGROUND
Osteomyelitis variolosa is a self-limiting disease triggered by variola virus that cannot be prevented or repaired. Smallpox has been eradicated for 40 years, and complications that remain after smallpox has been cured have become a remarkable diagnostic challenge for contemporary physicians. In this systematic review, we searched PubMed (MEDLINE), Web of Science, and Google Scholar for cases on complications, diagnosis, and treatment for osteomyelitis variolosa between January 1980 and February 2021.
RESULTS
Ten papers and eleven finished cases, all patients from India, were included for comparison with the present case. In total, 100% of patients presented with bilateral elbow deformities, the ankle was the second most common site of lesion in 50%, and knee lesions accounted for 25% in this study. Flexion contracture, joint instability, secondary arthritis, and fracture are common complications of osteomyelitis variolosa, and most patients receive conservative treatment, while internal fixation has good results for combined fractures.
CONCLUSIONS
Although osteomyelitis variolosa is not a direct threat to the safety of patients, severe skeletal deformities can have a significant impact on quality of life. With advances in surgical techniques, clinicians are offering an increasing number of treatment options for patients with osteomyelitis variolosa. However, most importantly, smallpox has basically been removed from the historical arena, and for areas where smallpox was once endemic, physicians need to deepen the understanding of this disease again.
Topics: Humans; Joint Instability; Osteomyelitis; Quality of Life; Smallpox; Variola virus
PubMed: 34362412
DOI: 10.1186/s13023-021-01985-0 -
EFORT Open Reviews May 2021Equinus contracture is the most common deformity at clubfoot relapse and causes pain and functional limitation. It presents a challenge to the orthopaedic surgeon... (Review)
Review
Equinus contracture is the most common deformity at clubfoot relapse and causes pain and functional limitation. It presents a challenge to the orthopaedic surgeon throughout childhood.A systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies included were: (i) original articles, (ii) investigating management of relapsed idiopathic clubfoot, (iii) with at least a partial study population of primarily equinus deformity, and (iv) a paediatric study population of independent walking age.Nine studies were included with a total of 163 patients (207 feet). Studies presented five management paradigms: gastrocnemius-soleus complex release, extensive posterior soft tissue and joint release, anterior distal tibial hemi-epiphysiodesis, distal tibial osteotomy, and circular frame distraction.All approaches reported success in at least one of our selected outcome domains: plantigrade status, range of motion, clinical outcome scores, functional status, radiographic outcomes, patient-reported outcomes, and complications. Younger children tend to be managed with soft tissue release while older children tend to require more extensive bone/joint procedures. Relapse in surgically treated feet is harder to treat.Comparison across treatment approaches is limited by the small size and low evidence level of the literature, as well as a lack of consistent outcome reporting. It is therefore not possible to recommend any one treatment option in any age group.This review highlights the need for a validated core outcome set to enable high-quality research into the management of equinus deformity. Cite this article: 2021;6:354-363. DOI: 10.1302/2058-5241.6.200110.
PubMed: 34150329
DOI: 10.1302/2058-5241.6.200110 -
Knee Surgery, Sports Traumatology,... Apr 2022To assess the recovery of extension and improvement in functional scores after an arthroscopic or open posterior knee capsulotomy in the setting of an extension deficit.
PURPOSE
To assess the recovery of extension and improvement in functional scores after an arthroscopic or open posterior knee capsulotomy in the setting of an extension deficit.
METHODS
A systematic search of articles published between 1980 and 2020 was performed in the MEDLINE/PubMed database, EMBASE/Ovid database and Web of Science database. The inclusion criteria consisted of patients with primary extension deficits > 5° who underwent an arthroscopic or open posterior knee capsulotomy. The assessed outcomes were preoperative and postoperative range of motion and functional outcome scores. Randomized controlled trials, cohort studies and case series with a follow-up longer than 6 months were included. The risk of bias was assessed using the Joanna Briggs Institute critical appraisal tool for case series. The certainty of evidence was assessed using the GRADE approach.
RESULTS
Of 226 records identified through database searching, 7 studies were included in the final analysis. The outcomes of 107 patients with a mean age of 34.1 (range 15-63) years were available. In all the included studies, a posterior capsulotomy resulted in the restoration of knee extension to normal or nearly normal values (mean postoperative extension deficit: 0.4-4.2 degrees) with a significant increase in functional outcome scores. No neurovascular complications were reported within the studies. Due to the diverse methodology of studies, the direct comparison of arthroscopic versus open approaches was not possible. Concerning the risk of bias assessment, the greatest concerns raised the selection of participants among the included studies and the methods of outcome measurement. The certainty of evidence was very low according to the GRADE.
CONCLUSIONS
Both arthroscopic and open posterior capsulotomy of the knee results in restoration of normal or nearly normal knee extension and significant improvement in functional outcomes.
LEVEL OF EVIDENCE
IV.
Topics: Adolescent; Adult; Arthroscopy; Cohort Studies; Humans; Joint Capsule Release; Knee Joint; Middle Aged; Range of Motion, Articular; Treatment Outcome; Young Adult
PubMed: 34117895
DOI: 10.1007/s00167-021-06634-4 -
Child's Nervous System : ChNS :... Jun 2021Selective dorsal rhizotomy (SDR) has been used to improve mobility and reduce lower extremity spasticity in patients with a various CNS conditions. Incidentally,... (Review)
Review
PURPOSE
Selective dorsal rhizotomy (SDR) has been used to improve mobility and reduce lower extremity spasticity in patients with a various CNS conditions. Incidentally, literature on SDR has been performed in the pediatric population as such there is a paucity of research on the use in adult patients.
METHODS
Studies describing SDR in adults were identified from Medline and Embase databases. Combinations of search terms "Selective Dorsal Rhizotomy," "Selective Posterior Rhizotomy," and "Adult" were used. Only literature in English language on patients over the age of 18 years and that included measures for lower extremity outcome (i.e., spasticity, mobility) were included. Case reports, reviews without primary data, or inaccessible publications were excluded.
RESULTS
One hundred twenty-nine publications between 1970 and 2019 were identified. Twelve of these publications fit the inclusion criteria (n = 141 patients). In series where it was reported, SDR resulted in ambulatory improvement (54%, n = 44 out of 81), reduced spasticity (75.2%, n = 106 out of 141), and minimized muscle and joint pain (74.5%, n = 64 out of 86). SDR also showed improvement in parameters of the activities of daily life. 92.3% (n = 48 out of 52) of patients post-SDR developed new lower limb paresthesia.
CONCLUSION
The success and efficacy appear durable in the short-term, but further follow-up is necessary to validate these findings. The goal of the intervention dictates the ideal adult patient for SDR. Patients seeking ambulatory improvement, any etiology of spasticity besides MS, seem favorable. Positive locomotive predictors include the ability to isolate lower extremity function, lack of contractures, lower limb strength, and post-SDR physiotherapy.
Topics: Adult; Causality; Cerebral Palsy; Child; Databases, Factual; Humans; Middle Aged; Muscle Spasticity; Rhizotomy; Treatment Outcome
PubMed: 33928427
DOI: 10.1007/s00381-021-05167-y -
Ultrasound in Obstetrics & Gynecology :... Oct 2021To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF).
METHODS
A prospective cohort study (comprising an extended group of the Prenatal Assessment of Genomes and Exomes (PAGE) study) was performed which included 28 cases of prenatally diagnosed NIHF undergoing trio ES following negative CMA or karyotyping. These cases were combined with data from a systematic review of the literature. MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov databases were searched electronically (January 2000 to October 2020) for studies reporting on the incremental yield of ES over CMA or karyotyping in fetuses with prenatally detected NIHF. Inclusion criteria for the systematic review were: (i) at least two cases of NIHF undergoing sequencing; (ii) testing initiated based on prenatal ultrasound-based phenotype; and (iii) negative CMA or karyotyping result. The incremental diagnostic yield of ES was assessed in: (i) all cases of NIHF; (ii) isolated NIHF; (iii) NIHF associated with an additional fetal structural anomaly; and (iv) NIHF according to severity (i.e. two vs three or more cavities affected).
RESULTS
In the extended PAGE study cohort, the additional diagnostic yield of ES over CMA or karyotyping was 25.0% (7/28) in all NIHF cases, 21.4% (3/14) in those with isolated NIHF and 28.6% (4/14) in those with non-isolated NIHF. In the meta-analysis, the pooled incremental yield based on 21 studies (306 cases) was 29% (95% CI, 24-34%; P < 0.00001; I = 0%) in all NIHF, 21% (95% CI, 13-30%; P < 0.00001; I = 0%) in isolated NIHF and 39% (95% CI, 30-49%; P < 0.00001; I = 1%) in NIHF associated with an additional fetal structural anomaly. In the latter group, congenital limb contractures were the most prevalent additional structural anomaly associated with a causative pathogenic variant, occurring in 17.3% (19/110) of cases. The incremental yield did not differ significantly according to hydrops severity. The most common genetic disorders identified were RASopathies, occurring in 30.3% (27/89) of cases with a causative pathogenic variant, most frequently due to a PTPN11 variant (44.4%; 12/27). The predominant inheritance pattern in causative pathogenic variants was autosomal dominant in monoallelic disease genes (57.3%; 51/89), with most being de novo (86.3%; 44/51).
CONCLUSIONS
Use of prenatal next-generation sequencing in both isolated and non-isolated NIHF should be considered in the development of clinical pathways. Given the wide range of potential syndromic diagnoses and heterogeneity in the prenatal phenotype of NIHF, exome or whole-genome sequencing may prove to be a more appropriate testing approach than a targeted gene panel testing strategy. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; High-Throughput Nucleotide Sequencing; Humans; Hydrops Fetalis; Karyotyping; Microarray Analysis; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Prospective Studies; Exome Sequencing
PubMed: 33847422
DOI: 10.1002/uog.23652 -
Clinical Pharmacology and Therapeutics Dec 2021Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA...
Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA do not achieve major motor milestones, and death from respiratory failure typically occurs before 2 years of age. Individuals with types 2 and 3 SMA exhibit milder phenotypes and have better functional and survival outcomes. Herein, a systematic literature review was conducted to identify factors that influence the prognosis of types 1, 2, and 3 SMA. In untreated infants with type 1 SMA, absence of symptoms at birth, a later symptom onset, and a higher survival of motor neuron 2 (SMN2) copy number are all associated with increased survival. Disease duration, age at treatment initiation, and, to a lesser extent, baseline function were identified as potential treatment-modifying factors for survival, emphasizing that early treatment with disease-modifying therapies (DMT) is essential in type 1 SMA. In patients with types 2 and 3 SMA, factors considered prognostic of changes in motor function were SMN2 copy number, age, and ambulatory status. Individuals aged 6-15 years were particularly vulnerable to developing complications (scoliosis and progressive joint contractures) which negatively influence functional outcomes and may also affect the therapeutic response in patients. Age at the time of treatment initiation emerged as a treatment-effect modifier on the outcome of DMTs. Factors identified in this review should be considered prior to designing or analyzing studies in an SMA population, conducting population matching, or summarizing results from different studies on the treatments for SMA.
Topics: Cholestenones; Humans; Muscular Atrophy, Spinal; Observational Studies as Topic; Oligonucleotides; Prognosis; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 33792051
DOI: 10.1002/cpt.2247 -
Archives of Rehabilitation Research and... Mar 2021To investigate whether nonsurgical treatment can reduce muscle contractures in individuals with neurologic disorders. The primary outcome measure was muscle contractures... (Review)
Review
OBJECTIVE
To investigate whether nonsurgical treatment can reduce muscle contractures in individuals with neurologic disorders. The primary outcome measure was muscle contractures measured as joint mobility or passive stiffness.
DATA SOURCES
Embase, MEDLINE, Cumulative Index to Nursing and Allied Health, and Physiotherapy Evidence Database in June-July 2019 and again in July 2020.
STUDY SELECTION
The search resulted in 8020 records, which were screened by 2 authors based on our patient, intervention, comparison, outcome criteria. We included controlled trials of nonsurgical interventions administered to treat muscle contractures in individuals with neurologic disorders.
DATA EXTRACTION
Authors, participant characteristics, intervention details, and joint mobility/passive stiffness before and after intervention were extracted. We assessed trials for risk of bias using the Downs and Black checklist. We conducted meta-analyses investigating the short-term effect on joint mobility using a random-effects model with the pooled effect from randomized controlled trials (RCTs) as the primary outcome. The minimal clinically important effect was set at 5°.
DATA SYNTHESIS
A total of 70 trials (57 RCTs) were eligible for inclusion. Stretch had a pooled effect of 3° (95% CI, 1-4°; prediction interval (PI)=-2 to 7°; =66%; <.001), and robot-assisted rehabilitation had an effect of 1 (95% CI, 0-2; PI=-8 to 9; =73%; =.03). We found no effect of shockwave therapy (=.56), physical activity (=.27), electrical stimulation (=.11), or botulinum toxin (=.13). Although trials were generally of moderate to high quality according to the Downs and Black checklist, only 18 of the 70 trials used objective measures of muscle contractures. In 23 trials, nonobjective measures were used without use of assessor-blinding.
CONCLUSIONS
We did not find convincing evidence supporting the use of any nonsurgical treatment option. We recommend that controlled trials using objective measures of muscle contractures and a sufficiently large number of participants be performed.
PubMed: 33778477
DOI: 10.1016/j.arrct.2021.100104 -
Disability and Rehabilitation Jul 2022In persons with a hip or knee flexion contracture ≥25°, fitting a prosthesis is said to be difficult. This systematic review aims to assess the evidence for fitting...
PURPOSE
In persons with a hip or knee flexion contracture ≥25°, fitting a prosthesis is said to be difficult. This systematic review aims to assess the evidence for fitting of a prosthesis in persons with a severe contracture (≥25°) after a lower limb amputation.
METHOD
PubMed, Embase, Scopus, CINAHL, and Orthotics & Prosthetics Virtual Library databases were searched from inception to December 2019, using database specific search terms related to amputation, prosthesis, and contracture. Reference lists of included studies were checked for relevant studies. Quality of the included studies was assessed using the critical appraisal checklist for case reports (Joanna Briggs Institute).
RESULTS
In total, 13 case studies provided evidence for fitting of a prosthesis in more than 63 persons with a transtibial amputation and three with a transfemoral amputation, all of whom had a hip or knee flexion contracture ≥25°. Some studies found a reduction in contractures after prosthesis use.
CONCLUSIONS
Several techniques for fitting a prosthesis in case of a flexion contracture ≥25° were found. Contracture reduction occurred in some cases and was possibly related to prosthesis use. Fitting a transtibial or transfemoral prosthesis in persons with a lower limb amputation with a severe flexion contracture is possible.IMPLICATIONS FOR REHABILITATIONThis study provides information on prosthesis prescriptions and adaptations for persons with a transfemoral and transtibial amputation with a flexion contracture ≥25°.The fitting of bent prostheses is not limited by prosthetic components and techniques.Parallel to the use of bent prostheses, it is also important to treat the contracture.
Topics: Amputation, Surgical; Amputees; Artificial Limbs; Contracture; Humans; Knee Joint; Leg
PubMed: 33683989
DOI: 10.1080/09638288.2021.1893393 -
Case Reports in Genetics 2020Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by...
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
PubMed: 33628537
DOI: 10.1155/2020/7353452