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International Journal of Cardiology Sep 2022Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor β signalling pathway. Due to the recent... (Review)
Review
INTRODUCTION
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor β signalling pathway. Due to the recent discovery of the underlying genetic mutations leading to LDS, the spectrum of characteristics and complications is not fully understood.
METHODS
Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and google scholar) and included variations of "Loeys-Dietz Syndrome" as search terms, using all available data until February 2021. All study types were included. Three reviewers screened 1394 abstracts, of which 418 underwent full-text review and 392 were included in the final analysis.
RESULTS
We identified 3896 reported cases of LDS with the most commonly reported features and complications being: aortic aneurysms and dissections, arterial tortuosity, high arched palate, abnormal uvula and hypertelorism. LDS Types 1 and 2 share many clinical features, LDS Type 2 appears to have a more aggressive aortic disease. LDS Type 3 demonstrated an increased prevalence of mitral valve prolapse and arthritis. LDS Type 4 and 5 demonstrated a lower prevalence of musculoskeletal and cardiovascular involvement. Amongst 222 women who underwent 522 pregnancies, 4% experienced an aortic dissection and the peripartum mortality rate was 1%.
CONCLUSION
We observed that LDS is a multisystem connective tissue disorder that is associated with a high burden of complications, requiring a multidisciplinary approach. Ongoing attempts to better characterise these features will allow clinicians to appropriately screen and manage these complications.
Topics: Aortic Dissection; Arteries; Connective Tissue Diseases; Female; Humans; Loeys-Dietz Syndrome; Mutation; Pregnancy
PubMed: 35662564
DOI: 10.1016/j.ijcard.2022.05.065 -
AJR. American Journal of Roentgenology Mar 2021Imaging plays a critical role in the assessment of patients with femoroacetabular impingement (FAI). With better understanding of the underlying pathomechanics and...
Imaging plays a critical role in the assessment of patients with femoroacetabular impingement (FAI). With better understanding of the underlying pathomechanics and advances in joint-preserving surgery, there is an increasing need to define the most appropriate imaging workup. The purpose of this article is to provide guidance on best practices for imaging of patients with FAI in light of recent advances in corrective FAI surgery. Pelvic radiography with dedicated hip projections is the basis of the diagnostic workup of patients with suspected FAI to assess arthritic changes and acetabular coverage and to screen for cam deformities. Chondrolabral lesions should be evaluated with unenhanced MRI or MR arthrography. The protocol should include a large-FOV fluid-sensitive sequence to exclude conditions that can mimic or coexist with FAI, radial imaging to accurately determine the presence of a cam deformity, and imaging of the distal femoral condyles for measurement of femoral torsion. CT remains a valuable tool for planning of complex surgical corrections. Advanced imaging, such as 3D simulation, biochemical MRI, and MR arthrography with application of leg traction, has great potential to improve surgical decision-making. Further research is needed to assess the added clinical value of these techniques.
Topics: Acetabulum; Adult; Arthrography; Diagnosis, Differential; Evidence-Based Medicine; Female; Femoracetabular Impingement; Femur Head; Femur Neck; Hip Dislocation, Congenital; Hip Joint; Humans; Magnetic Resonance Imaging; Male; Organ Sparing Treatments; Osteoarthritis, Hip; Practice Guidelines as Topic; Tomography, X-Ray Computed; Torsion Abnormality; Traction; Young Adult
PubMed: 33474984
DOI: 10.2214/AJR.20.22783 -
The Lancet. Infectious Diseases Apr 2023In 2020, an estimated total of 155 million people had survived tuberculosis. Among this number, a sizable proportion have considerable post-tuberculosis morbidity, as... (Review)
Review
In 2020, an estimated total of 155 million people had survived tuberculosis. Among this number, a sizable proportion have considerable post-tuberculosis morbidity, as shown for the adult population. This systematic review aims to identify the spectrum and prevalence of post-tuberculosis sequelae in children and adolescents. Four databases were systematically searched from database inception to Feb 7, 2022, for literature on post-treatment outcomes of tuberculosis acquired during childhood. Of the 4613 identified publications, 71 studies were included in this systematic review. Studies on cohorts with comparably rare (most of which were extrapulmonary) tuberculosis presentations, such as spinal tuberculosis and tuberculous meningitis were over-represented; however, no study assessed long-term sequelae in a cohort with an average childhood tuberculosis spectrum. The descriptive analysis includes long-term outcomes of 3529 paediatric patients 1 month to 36 years after confirmed (47%) or clinical (53%) tuberculosis. In a considerable proportion of children, a broad spectrum of post-tuberculosis sequelae were identified, ranging from radiological residua after pulmonary tuberculosis, to disabling deformities after musculoskeletal and cutaneous tuberculosis, to somatic and psychosocial impairment after tuberculous meningitis. A better understanding and comprehensive assessment of post-tuberculosis sequelae in children are needed to improve tuberculosis care beyond antituberculous treatment.
Topics: Adult; Child; Humans; Adolescent; Tuberculosis, Meningeal; Tuberculosis, Pulmonary; Morbidity; Prevalence; Tuberculosis, Cutaneous; Tuberculosis, Extrapulmonary
PubMed: 36963920
DOI: 10.1016/S1473-3099(23)00004-X -
Chiropractic & Manual Therapies Jun 2020To investigate for congenital muscular torticollis (CMT) and positional plagiocephaly (PP) the effectiveness and safety of manual therapy, repositioning and helmet...
The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance.
AIM
To investigate for congenital muscular torticollis (CMT) and positional plagiocephaly (PP) the effectiveness and safety of manual therapy, repositioning and helmet therapy (PP only) using a systematic review of systematic reviews and national guidelines.
METHODS
We searched four major relevant databases: PubMed, Embase, Cochrane and MANTIS for research studies published between the period 1999-2019. Inclusion criteria were systematic reviews that analysed results from multiple studies and guidelines that used evidence and expert opinion to recommend treatment and care approaches. Three reviewers independently selected articles by title, abstract and full paper review, and extracted data. Selected studies were described by two authors and assessed for quality. Where possible meta-analysed data for change in outcomes (range of movement and head shape) were extracted and qualitative conclusions were assessed.
RESULTS
We found 10 systematic reviews for PP and 4 for CMT. One national guideline was found for each PP and CMT. For PP, manual therapy was found to be more effective than repositioning including tummy time (moderate to high evidence) but not better than helmet therapy (low evidence). Helmet therapy was better than usual care or repositioning (low evidence); and repositioning better than usual care (moderate to high evidence). The results for CMT showed that manual therapy in the form of practitioner-led stretching had moderate favourable evidence for increased range of movement. Advice, guidance and parental support was recommended in all the guidance to reassure parents of the favourable trajectory and nature of these conditions over time.
CONCLUSIONS
Distinguishing between superiority of treatments was difficult due to the lack of standardised measurement systems, the variety of outcomes and limited high quality studies. More well powered effectiveness and efficacy studies are needed. However overall, advice and guidance on repositioning (including tummy-time) and practitioner-led stretching were low risk, potentially helpful and inexpensive interventions for parents to consider.
SYSTEMATIC REVIEW REGISTRATION NUMBER
PROSPERO 2019 CRD42019139074.
Topics: Head Protective Devices; Humans; Musculoskeletal Manipulations; Plagiocephaly, Nonsynostotic; Systematic Reviews as Topic; Torticollis
PubMed: 32522230
DOI: 10.1186/s12998-020-00321-w -
Journal of Foot and Ankle Research Nov 2021Flatfoot is characterised by the falling of the medial longitudinal arch, eversion of the hindfoot and abduction of the loaded forefoot. Furthermore, flatfoot leads to a... (Review)
Review
BACKGROUND
Flatfoot is characterised by the falling of the medial longitudinal arch, eversion of the hindfoot and abduction of the loaded forefoot. Furthermore, flatfoot leads to a variety of musculoskeletal symptoms in the lower extremity, such as knee or hip pain. The standard conservative treatment for flatfoot deformity is exercise therapy or treatment with foot orthoses. Foot orthoses are prescribed for various foot complaints. However, the evidence for the provision of foot orthoses is inconsistent. The aim of this systematic review is to synthesize the evidence of foot orthoses for adults with flatfoot.
METHODS
A computerized search was conducted in August 2021, using the databases PubMed, Scopus, Pedro, Cochrane Library, and the Cochrane Central Register of Controlled Trials. Intervention studies of any design investigating the effects of foot orthoses were included, apart from case studies. Two independent reviewers assessed all search results to identify eligible studies and to assess their methodological quality.
RESULTS
A total of 110 studies were identified through the database search. 12 studies met the inclusion criteria and were included in the review. These studies investigated prefabricated and custom-made foot orthoses, evaluating stance and plantar pressure during gait. The sample sizes of the identified studies ranged from 8 to 80. In most of the studies, the methodological quality was low and a lack of information was frequently detected.
CONCLUSION
There is a lack of evidence on the effect of foot orthoses for flatfoot in adults. This review illustrates the importance of conducting randomized controlled trials and the comprehensive development of guidelines for the prescription of foot orthoses. Given the weak evidence available, the common prescription of foot orthoses is somewhat surprising.
Topics: Adult; Flatfoot; Foot; Foot Orthoses; Gait; Humans; Lower Extremity
PubMed: 34844639
DOI: 10.1186/s13047-021-00499-z -
Annals of the Rheumatic Diseases May 2024To update the EULAR recommendations for the use of imaging modalities in primary large vessel vasculitis (LVV).
OBJECTIVES
To update the EULAR recommendations for the use of imaging modalities in primary large vessel vasculitis (LVV).
METHODS
A systematic literature review update was performed to retrieve new evidence on ultrasound, MRI, CT and [F]-fluorodeoxyglucose positron emission tomography (FDG-PET) for diagnosis, monitoring and outcome prediction in LVV. The task force consisted of 24 physicians, health professionals and patients from 14 countries. The recommendations were updated based on evidence and expert opinion, iterating until voting indicated consensus. The level of agreement was determined by anonymous votes.
RESULTS
Three overarching principles and eight recommendations were agreed. Compared to the 2018 version, ultrasound is now recommended as first-line imaging test in all patients with suspected giant cell arteritis, and axillary arteries should be included in the standard examination. As an alternative to ultrasound, cranial and extracranial arteries can be examined by FDG-PET or MRI. For Takayasu arteritis, MRI is the preferred imaging modality; FDG-PET, CT or ultrasound are alternatives. Although imaging is not routinely recommended for follow-up, ultrasound, FDG-PET or MRI may be used for assessing vessel abnormalities in LVV patients with suspected relapse, particularly when laboratory markers of inflammation are unreliable. MR-angiography, CT-angiography or ultrasound may be used for long-term monitoring of structural damage, particularly at sites of preceding vascular inflammation.
CONCLUSIONS
The 2023 EULAR recommendations provide up-to-date guidance for the role of imaging in the diagnosis and assessment of patients with LVV.
Topics: Humans; Giant Cell Arteritis; Takayasu Arteritis; Ultrasonography; Magnetic Resonance Imaging; Fluorodeoxyglucose F18; Positron-Emission Tomography; Vasculitis; Tomography, X-Ray Computed; Axillary Artery
PubMed: 37550004
DOI: 10.1136/ard-2023-224543 -
JAMA Network Open Aug 2022Universal ultrasonographic screening for developmental dysplasia of the hip (DDH) has gained increasing popularity despite the lack of benefit in terms of reducing the... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Universal ultrasonographic screening for developmental dysplasia of the hip (DDH) has gained increasing popularity despite the lack of benefit in terms of reducing the rates of late-detected cases (age ≥12 weeks) in randomized clinical trials.
OBJECTIVE
To report the reported incidence of DDH in the English scientific literature and compare rates of late-detected cases in settings with different DDH screening strategies.
DATA SOURCES
PubMed, Scopus, and Web of Science databases were searched on November 25 and 27, 2021. No time filters were used in the search.
STUDY SELECTION
All observational studies reporting the incidence of early-detected or late-detected (age ≥12 weeks) DDH were included. Non-English reports were excluded if the abstract did not include enough information to be included for analysis.
DATA EXTRACTION AND SYNTHESIS
The number of newborns screened and the detection rates were extracted. Meta-analysis calculated the pooled incidence of DDH per 1000 newborns with 95% CIs using a random- or fixed-effects model. This study is reported according to the PRISMA and MOOSE guidelines.
MAIN OUTCOMES AND MEASURES
The main outcome measures were early detection, early treatment, late detection, and operative treatment incidences.
RESULTS
A total of 1899 studies were identified, 203 full texts were assessed, and 76 studies with 16 901 079 infants were included in final analyses. The early detection rate was 8.4 (95% CI, 4.8-14.8) infants with DDH per 1000 newborns with clinical screening, 4.4 (95% CI, 2.4-8.0) infants with DDH per 1000 newborns with selective ultrasonographic screening, and 23.0 (95% CI, 15.7-33.4) infants with DDH per 1000 newborns with universal ultrasonographic screening. Rates for nonoperative treatment were 5.5 (95% CI, 2.1-14) treatments per 1000 newborns with clinical screening, 3.1 (95% CI, 2.0-4.8) treatments per 1000 newborns with selective ultrasonographic screening, and 9.8 (95% CI, 6.7-14.4) treatments per 1000 newborns with universal ultrasonographic screening. The incidence of late-detected DDH was 0.5 (95% CI, 0.2-1.5) infants with DDH per 1000 newborns with clinical screening, 0.6 (95% CI, 0.3-1.3) infants with DDH per 1000 newborns with selective ultrasonographic screening, and 0.2 (95% CI, 0.0-0.8) infants with DDH per 1000 newborns with universal ultrasonographic screening. The corresponding incidences of operative treatment were 0.2 (95% CI, 0.0-0.9) operations per 1000 newborns with clinical screening, 0.5 (95% CI, 0.4-0.7) operations per 1000 newborns with selective ultrasonographic screening, and 0.4 (95% CI, 0.2-0.7) operations per 1000 newborns with universal ultrasonographic screening.
CONCLUSIONS AND RELEVANCE
This meta-analysis found that early detection rates and nonoperative treatments were higher with universal screening. The late detection and operative treatment rates with universal screening were similar to those among selectively and clinically screened newborns. Based on these results, universal screening may cause initial overtreatment without reducing the rates of late detection and operative treatment.
Topics: Developmental Dysplasia of the Hip; Hip Dislocation, Congenital; Humans; Incidence; Infant; Infant, Newborn; Neonatal Screening; Ultrasonography
PubMed: 35980635
DOI: 10.1001/jamanetworkopen.2022.27638 -
Cureus Sep 2023Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather... (Review)
Review
Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather than live births. The condition is often associated with other congenital anomalies, leading to the hypothesis that most affected fetuses do not survive to term. However, the exact cause and specific associated anomalies remain unclear and poorly described in the literature. The limited mention of bladder agenesis in textbooks and literature underscores the importance of creating a comprehensive source for future research in this field. Therefore, our objective is to collect and analyze data on bladder agenesis, focusing on associated anomalies and potential causes, to enhance our understanding of the condition. We conducted a thorough review of reports collected from three databases, Google Scholar, PubMed, and Science Direct, last searched on July 30, 2023, starting with 327 reports. Excluding duplicates and records written in languages other than English, veterinary studies, irrelevant reports, or stillbirths. Inclusion criteria were the following: cases must have proven bladder agenesis, not hypoplasia, and must have most of the information, including the age of diagnosis, presenting symptoms, gender, associated anomalies, and management or outcome of the patient. A quality assessment was conducted according to the Joanna Briggs Institute checklist for case reports. A total of 65 case reports from 56 articles were included in the review. Through our manual analysis, we documented a wild array of malformations associated with bladder agenesis. Among the reports reviewed, 93% exhibited urinary system malformations beside bladder agenesis, 77% were found to have reproductive malformations, 44% had gastrointestinal anomalies, 38% showed musculoskeletal malformations, 28% had cardiac malformations, and another 28% had vascular anomalies. The overall mortality rate was 38%, with a higher rate of 74% for males compared to 20% for females. By collating and analyzing those case reports, we aim to contribute to a better understanding of bladder agenesis and its associated anomalies, facilitating further investigations and advancements in the field.
PubMed: 37842406
DOI: 10.7759/cureus.45121 -
Children (Basel, Switzerland) Dec 2023A single congenital muscular torticollis (CMT) is a postural musculoskeletal deformity and is characterized by the shortening or stiffness of the sternocleidomastoid... (Review)
Review
A single congenital muscular torticollis (CMT) is a postural musculoskeletal deformity and is characterized by the shortening or stiffness of the sternocleidomastoid muscle. The reported incidence of CMT ranges from 0.2% to 2%. The objective is to evaluate the effect of physical therapy programs on CMT. For the search, PubMed, Scopus, Web of Science, PEDro and Cochrane databases were used. Randomized controlled trials published between 2018 and 2023 have been included. This study follows the PRISMA 2020 statement and has been registered in the PROSPERO database. Finally, six studies were included. The cervical range of motion (ROM) in rotation was the most analyzed variable, followed by the ultrasound evaluation; one of the studies included the analysis of children's motor development with the Alberta scale. All research found benefits associated with soft tissue mobilization, passive stretching techniques and manual therapy of the cervical spine. In conclusion, it is possible to recommend manual therapy and passive stretching techniques for the treatment of CMT, with significant results on the cervical ROM.
PubMed: 38275429
DOI: 10.3390/children11010008 -
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