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Global Spine Journal Sep 2019Systematic review (Level 4). (Review)
Review
STUDY DESIGN
Systematic review (Level 4).
OBJECTIVE
To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae.
METHODS
A systematic search was performed of multiple databases. A total of 279 articles were identified for screening. Case series or case reports of butterfly vertebrae with adequate clinical detail were complied.
RESULTS
Eighty-two total articles (109 patients) were selected for final inclusion. Sixty-one percent of patients presented with a single butterfly vertebra, while 39% were multiple. The most common location for butterfly vertebrae was T1. Fifty-six percent of cases were associated with a syndrome, the most common being spondylocostal dysostosis. The presence of multiple butterfly vertebra was strongly associated with a syndrome or additional anomalies ( < .001). Overall, the most common presenting complaint was low back pain. Seventy percent of patients had associated spinal disease. Other organ systems affected included musculoskeletal (43%), craniofacial (30%), neurologic (27%), cardiovascular (24%), genitourinary (23%), gastrointestinal (22%), laboratory abnormality (16%), and endocrine (9%).
CONCLUSIONS
This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.
PubMed: 31448202
DOI: 10.1177/2192568218801016 -
Current Pediatric Reviews 2023Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the...
BACKGROUND
Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the clinical heterogeneity of SRS makes diagnosis a challenging task, the worldwide incidence of SRS could vary from 1:30,000 to 1:100,000. Although various chromosomal, genetic, and epigenetic mutations have been linked with SRS, the cause had only been identified in half of the cases.
MATERIAL AND METHODS
To have a better understanding of the SRS clinical presentation and mutation/ epimutation responsible for SRS, a systematic review of the literature was carried out using appropriate keywords in various scientific databases (PROSPERO protocol registration CRD42021273211). Clinical features of SRS have been compiled and presented corresponding to the specific genetic subtype. An attempt has been made to understand the recurrence risk and the role of model organisms in understanding the molecular mechanisms of SRS pathology, treatment, and management strategies of the affected patients through the analysis of selected literature.
RESULTS
156 articles were selected to understand the clinical and molecular heterogeneity of SRS. Information about detailed clinical features was available for 228 patients only, and it was observed that body asymmetry and relative macrocephaly were most prevalent in cases with methylation defects of the 11p15 region. In about 38% of cases, methylation defects in ICRs or genomic mutations at the 11p15 region have been implicated. Maternal uniparental disomy of chromosome 7 (mUPD7) accounts for about 7% of SRS cases, and rarely, uniparental disomy of other autosomes (11, 14, 16, and 20 chromosomes) has been documented. Mutation in half of the cases is yet to be identified. Studies involving mice as experimental animals have been helpful in understanding the underlying molecular mechanism. As the clinical presentation of the syndrome varies a lot, treatment needs to be individualized with multidisciplinary effort.
CONCLUSION
SRS is a clinically and genetically heterogeneous disorder, with most of the cases being implicated with a mutation in the 11p15 region and maternal disomy of chromosome 7. Recurrence risk varies according to the molecular subtype. Studies with mice as a model organism have been useful in understanding the underlying molecular mechanism leading to the characteristic clinical presentation of the syndrome. Management strategies often need to be individualized due to varied clinical presentations.
Topics: Humans; Animals; Mice; Mice, Inbred ICR; Silver-Russell Syndrome; Uniparental Disomy; Genomic Imprinting
PubMed: 35293298
DOI: 10.2174/1573396318666220315142542 -
Plastic and Reconstructive Surgery Jan 2016No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an... (Review)
Review
BACKGROUND
No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations.
METHODS
A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014). Included were clinical studies (with five or more Treacher Collins syndrome patients) related to therapy, diagnosis, or risk of concomitant diseases. Level of evidence of the selected articles was rated according to the American Society of Plastic Surgeons evidence-based clinical practice guidelines. After two panelists had reviewed each abstract separately, a consensus method was used to solve any disagreements concerning article inclusion.
RESULTS
Of the 2433 identified articles, 63 studies (Level of Evidence II through V) were included. Conclusions and recommendations were extracted consecutively for the following items: upper airway; ear, hearing, and speech; the eye, eyelashes, and lacrimal system; growth, feeding, and swallowing; the nose; psychosocial factors; and craniofacial reconstruction.
CONCLUSIONS
In this systematic review, current evidence for the multidisciplinary treatment of Treacher Collins syndrome is provided, recommendations for treatment are made, and a proposed algorithm for treatment is presented. Although some topics are well supported, others, especially ocular, nasal, speech, feeding, and swallowing problems, lack sufficient evidence. In addition, craniofacial surgical reconstruction lacks a sufficient level of evidence to provide a sound basis for a full treatment protocol. Despite the rarity of the syndrome, more research is needed to compare outcomes of several surgical treatments, especially in orbitozygomatic/maxillary regions.
Topics: Combined Modality Therapy; Disability Evaluation; Evidence-Based Medicine; Female; Humans; Male; Mandibulofacial Dysostosis; Netherlands; Patient Care Planning; Practice Guidelines as Topic; Prognosis; Rare Diseases; Severity of Illness Index; Treatment Outcome
PubMed: 26710023
DOI: 10.1097/PRS.0000000000001896 -
Clinical Neurology and Neurosurgery Jul 2024Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial sutures. Traditional surgical treatments have evolved from open operations to minimally invasive endoscopic techniques. This systematic review and meta-analysis aim to evaluate the effectiveness and safety of the endoscopic approach in craniosynostosis correction.
METHODS
Adhering to Cochrane Group standards and the PRISMA framework, this review utilized databases like PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes of endoscopic craniosynostosis operations up to December 2023. Inclusion criteria emphasized studies with at least five patients undergoing endoscopic procedures, while exclusion criteria involved non-English papers, incomplete texts, and overlapping data. Statistical analysis used R software with various packages, and methodological bias was assessed using the ROBINS-I framework.
RESULTS
The review included 30 studies (4 prospective, 26 retrospective) with 2561 patients. The median age at operation was 3.20 months. Findings showed a mean operative time of 68.06 min, median hospital stay of 1.28 days, and mean blood loss of 29.89 ml. Blood transfusion was required in 9.97% of cases. Helmet therapy post-operation was common, with a median duration of 9 months. The rate of postoperative complications was 1.86%, and the reoperation rate was 3.07%. No procedure-related mortality was observed. The study noted substantial variations in the handling of craniosynostosis and a lack of consensus on the optimal timing and surgical approach.
CONCLUSION
Endoscopic techniques for craniosynostosis repair demonstrate safety and effectiveness, characterized by low complication risks and favorable surgical outcomes. However, due to the limitations of observational studies and inherent heterogeneity, further comprehensive and controlled trials are needed to validate these findings and understand the long-term outcomes of the endoscopic approach.
Topics: Craniosynostoses; Humans; Neuroendoscopy; Treatment Outcome; Postoperative Complications; Endoscopy; Infant; Operative Time; Length of Stay
PubMed: 38749357
DOI: 10.1016/j.clineuro.2024.108296 -
Annals of Surgical Oncology Aug 2015Although the safety of applying omentum to the female breast for total breast reconstruction is controversial, it has recently been used to treat certain mammary... (Review)
Review
PURPOSE
Although the safety of applying omentum to the female breast for total breast reconstruction is controversial, it has recently been used to treat certain mammary disorders as well. A systematic review was therefore conducted to analyze and establish the suitability and safety of applying omentum to the breast.
METHODS
Covereing the interval from January 1984 to December 2013, we performed searches in MEDLINE, Embase, SciELO, and Google-Scholar for original articles describing the applicability of greater omentum to the breast and its clinical complications.
RESULTS
Sixty observational articles with 985 women were chosen. The main clinical indications were total breast reconstruction after mastectomy due to breast cancer (45 studies), radiation damage (23 studies), and congenital Poland syndrome (4 studies). Altogether, 273 complications were identified among the 985 women treated. The most frequent was flap necrosis (26.74 %). The most serious was injury to the digestive system (1.10 %). There was a 35.48 % incidence of local breast cancer recurrence in eight observational studies on oncological risk. Seven of the eight included only women with advanced cancer. One of these studies reported the incidence and relapse time predominantly according to the primary tumor size.
CONCLUSIONS
Although the oncological risk remains unclear, there was a high volume of complications that affected the digestive system. These findings suggest that omentum has well established applicability, but only for total breast reconstruction of huge defects, where muscular/myocutaneous or perforator flaps may be unsuitable.
Topics: Breast Neoplasms; Female; Humans; Mammaplasty; Mastectomy; Neoplasm Recurrence, Local; Observational Studies as Topic; Omentum; Poland Syndrome; Radiation Injuries
PubMed: 25572679
DOI: 10.1245/s10434-014-4328-8 -
International Journal of Oral and... Jan 2018Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to... (Review)
Review
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted. Sixteen papers were included; 11 of these described developmental disorders. The most common reported anomalies were neural tube defects, corpus callosum agenesis or hypoplasia, intracranial lipoma, Arnold-Chiari malformations, hydrocephaly, ventriculomegaly, and cerebral hypoplasia. The prevalence of CNS anomalies in CFM varied from 2% to 69%. The prevalence of developmental disorders, such as intellectual disability, language or speech developmental delay, and neuropsychomotor delay, varied from 8% to 73%. This study suggests that CNS anomalies and developmental disorders are seen in a substantial proportion of patients with CFM. Further research should focus on determining which features of CFM are correlated with CNS anomalies to allow adequate screening and timely care.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Developmental Disabilities; Goldenhar Syndrome; Humans; Infant; Infant, Newborn; Nervous System Malformations; Prevalence
PubMed: 28736116
DOI: 10.1016/j.ijom.2017.06.009 -
The Journal of Clinical Pediatric... Sep 2022To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing...
OBJECTIVE
To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing the different dentofacial treatment methods.
STUDY DESIGN
An independent review of databases (Scopus, Embase, Ovid, Cochrane Library and PubMed) following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), conducted by four evaluators. The protocol of this study was registered in International prospective register of systematic reviews (PROSPERO), under the number CRD42021293076.
RESULTS
Between 1970-2021, a total number of 1137 articles were published of which 27 were included in this study according to the selection criteria: one randomized multicentric trial, two case-control studies, three case series and 21 case reports.
CONCLUSIONS
The most common orthopedic treatments provide vertical stimulation of the maxillary process in the affected side. Orthodontic approaches are mainly applied for vertical correction and stabilization of the occlusal plane. Other treatment options include orthognathic surgery, osteogenic distraction, temporomandibular reconstruction and grafting. It is recommended that prospective clinical randomized controlled studies be conducted using homogeneous pediatric groups with long-term follow-up, to establish recommended evidence-based methods for treating each set of hemifacial microsomia symptoms.
Topics: Humans; Child; Goldenhar Syndrome; Facial Asymmetry; Treatment Outcome; Retrospective Studies; Prospective Studies; Mandible; Randomized Controlled Trials as Topic
PubMed: 36624910
DOI: 10.22514/jocpd.2022.003 -
Archives of Orthopaedic and Trauma... Dec 2023To analyze the outcome of surgical treatment of tarsal coalition, assess the role of the surgical technique, as well as of coalition size and type on outcomes. (Review)
Review
PURPOSE
To analyze the outcome of surgical treatment of tarsal coalition, assess the role of the surgical technique, as well as of coalition size and type on outcomes.
METHODS
The search followed the Preferred Reporting Items of Systematic Review and Meta-Analysis and was performed in four databases: MEDLINE, Central, Scopus and Web of Science. The protocol has been registered in the international prospective register of systematic reviews. Patient-reported outcomes (PROMs), complications, revisions and radiographic recurrence were collected. Risk of bias was assessed using MINORS criteria. A random-effects model for meta-analysis was applied for analysis of data heterogeneity.
RESULTS
Twenty-five studies including 760 tarsal coalitions were included and had a weighted average follow-up of 44 months. Studies scored fair to poor on the risk of bias assessment with a mean MINORS score of 67% (44-81%). In 77.8% (37.5-100%) of surgically treated tarsal coalitions, good/excellent/non-limiting or improved PROMs were reported. Calculated data heterogeneity was moderate (I = 57%). Open bar resection with material interposition had a clinical success rate of 78.8% (50-100%). Complications occurred in 4.96% of cases. Coalition size did not prove to be a determining factor in postoperative outcome. The influence of the coalition type was not investigated by any of the studies.
CONCLUSION
Data on outcomes of surgical management for tarsal coalitions is limited to retrospective case series with high risk of bias and moderate data heterogeneity. In about ¾ of cases, open resection and interposition of material results in improved PROMs. The arbitrary margin of ≥ 50% of TC coalition size in relation to the posterior facet has little importance in surgical decision-making. None of the studies reported on the influence of the coalition type on postoperative clinical success.
Topics: Humans; Retrospective Studies; Synostosis; Systematic Reviews as Topic; Tarsal Bones; Tarsal Coalition
PubMed: 37462747
DOI: 10.1007/s00402-023-04982-z -
International Journal of Oral and... May 2015Children with craniofacial microsomia (CFM) are at risk of obstructive sleep apnoea (OSA). This systematic review provides an overview of the literature on the... (Review)
Review
Children with craniofacial microsomia (CFM) are at risk of obstructive sleep apnoea (OSA). This systematic review provides an overview of the literature on the prevalence of OSA in children with CFM. A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and OSA. The following data were extracted from the articles: number of patients, patient characteristics, presence of OSA, polysomnography outcomes, and the treatments and outcomes of OSA. We included 16 articles on CFM and OSA, four of which reported the prevalence of OSA (range 7-67%). Surgical treatment was more often described in these patients than conservative treatment. According to the literature, OSA is related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of OSA in patients with CFM.
Topics: Child; Goldenhar Syndrome; Humans; Sleep Apnea, Obstructive
PubMed: 25769220
DOI: 10.1016/j.ijom.2015.01.023 -
Science Progress 2023The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of... (Meta-Analysis)
Meta-Analysis Review
The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of craniofacial features (Cfc) between Crouzon's syndrome (CS) patients and non-CS populations. All articles published up to October 7, 2021, were included in the search of PubMed, Google Scholar, Scopus, Medline, and Web of Science. The PRISMA guidelines were followed to conduct this study. PECO framework was applied in the following ways: Those who have CS are denoted by the letter P, those who have been diagnosed with CS via clinical or genetic means by the letter E, those who do not have CS by the letter C, and those who have a Cfc of CS by the letter O. Independent reviewers collected the data and ranked the publications based on their adherence to the Newcastle-Ottawa Quality Assessment Scale. A total of six case-control studies were reviewed for this meta-analysis. Due to the large variation in cephalometric measures, only those published in at least two previous studies were included. This analysis found that CS patients had a smaller skull and mandible volumes than those without CS.in terms of SNA° (MD = -2.33, = <0.001, = 83.6%) and ANB°(MD = -1.89, = <0.005, = 93.1%)), as well as ANS (MD = -1.87, = 0.001, = 96.5%)) and SN/PP (MD = -1.99, = 0.036, = 77.3%)). In comparison to the general population, people with CS tend to have shorter and flatter cranial bases, smaller orbital volumes, and cleft palates. They differ from the general population in having a shorter skull base and more V-shaped maxillary arches.
Topics: Humans; Craniofacial Dysostosis; Case-Control Studies
PubMed: 36803068
DOI: 10.1177/00368504231156297