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American Family Physician Jan 2020Adolescent idiopathic scoliosis affects 1% to 3% of U.S. adolescents. It is defined by a lateral curvature of the spine (Cobb angle) of at least 10 degrees in the... (Review)
Review
Adolescent idiopathic scoliosis affects 1% to 3% of U.S. adolescents. It is defined by a lateral curvature of the spine (Cobb angle) of at least 10 degrees in the absence of underlying congenital or neuromuscular abnormalities. Adolescent idiopathic scoliosis may be detected via the forward bend test and should be confirmed with scoliometer measurement. Mild scoliosis is usually asymptomatic; it may contribute to musculoskeletal back pain, but there is no evidence that it causes disability or functional impairment. Patients with severe scoliosis (Cobb angle of 40 degrees or more) may have physical pain, cosmetic deformity, psychosocial distress, or, rarely, pulmonary disorders. Several studies have shown modest benefit from bracing and scoliosis-specific physical therapy to limit progression in mild to moderate scoliosis, but there were no effects on quality of life. Because no high-quality studies have proven that surgery is superior to bracing or observation, it should be reserved for severe cases. There is little evidence that treatments improve patient-oriented outcomes. The U.S. Preventive Services Task Force and the American Academy of Family Physicians found insufficient evidence to assess the balance of benefits and harms of screening for adolescent idiopathic scoliosis in children and adolescents 10 to 18 years of age.
Topics: Adolescent; Child; Evidence-Based Medicine; Female; Humans; Male; Physical Examination; Practice Guidelines as Topic; Scoliosis
PubMed: 31894928
DOI: No ID Found -
Pediatrics Feb 2022Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to... (Review)
Review
Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to persist into adult life with a significant decrease in function and quality of life. The Ponseti method (serial casting, Achilles tenotomy, and bracing of the clubfoot) has become the most effective and accepted treatment of children born with clubfoot worldwide. The treatment is successful, particularly when the Ponseti-trained practitioner (often a pediatric orthopedic surgeon), the primary care clinician, and the family work together to facilitate success. An important factor in the ultimate success of the Ponseti method is parental understanding of the bracing phase. There is a very high rate of recurrent deformity when bracing is not done properly or is stopped prematurely. The importance of positive education and support for the parents to complete the entire treatment protocol cannot be overstated. The goal of treatment is a deformity-free, functional, comfortable foot. Ponseti clubfoot programs have been launched in most countries throughout the world, including many countries with limited resources. Ultimately, the goal is that every infant born with a clubfoot will have access to care with the Ponseti method. This clinical report is intended for medical practitioners who are involved in the care of pediatric patients with clubfoot. Understanding the standard of care will help these practitioners to care for patients and their families.
Topics: Braces; Clubfoot; Humans; Tenotomy; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 35104362
DOI: 10.1542/peds.2021-055555 -
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 -
Acta Ortopedica Mexicana 2020Joint hypermobility syndrome is an inherited disorder with autosomal dominant pattern; is characterized by joint hyperlaxity and musculoskeletal pains. Thermal... (Review)
Review
Joint hypermobility syndrome is an inherited disorder with autosomal dominant pattern; is characterized by joint hyperlaxity and musculoskeletal pains. Thermal hypermobility refers to the increase in active or passive movements of joints based on their normal ranges. Joint hypermobility syndrome also has gastrointestinal symptoms, sleep disorders, fibromyalgia, psychological disorders, migraine headache, ophthalmic, autonomic, among others. To diagnose hypermobility syndrome, Brighton's criteria are generally accepted and published in 1998. This criteria also known as benign joint hypermobility syndrome. The term benign is used to distinguish it from other more severe conditions such as Ehler-Danlos (classic or vascular type), Marfan syndrome, and imperfect osteogenesis. Treatment with physiotherapy and pharmacological means help improve patients' quality of life.
Topics: Ehlers-Danlos Syndrome; Humans; Joint Instability; Quality of Life; Range of Motion, Articular; Skin Abnormalities
PubMed: 34020527
DOI: No ID Found -
Brazilian Journal of Physical Therapy 2020Migraine is a primary headache with high levels of associated disability that can be related to a variety of symptoms and comorbidities. The role of physical therapy in... (Review)
Review
BACKGROUND
Migraine is a primary headache with high levels of associated disability that can be related to a variety of symptoms and comorbidities. The role of physical therapy in the management of migraine is largely unknown. Therefore, the aim of this review is to highlight and critically discuss the current literature and evidence for physical therapy interventions in individuals with migraines.
METHODS
A narrative review of the literature was performed.
RESULTS
Physical therapists assessing and treating patients with migraine should focus on two primary aspects: (1) musculoskeletal dysfunctions, and (2) vestibular symptoms/postural control impairment. Signs and symptoms of musculoskeletal and/or vestibular dysfunctions are prevalent among individuals with migraines and different disability levels can be observed depending on the presence of aura or increment of the migraine attacks.
CONCLUSION
A proper physical examination and interview of the patients will lead to a tailored treatment plan. The primary aim regarding musculoskeletal dysfunctions is to reduce pain and sensitization, and physical therapy interventions may include a combination of manual therapy, exercise therapy, and education. The aim regarding postural control impairment is to optimize function and reduce vestibular symptoms, and interventions should include balance exercises and vestibular rehabilitation. However, consistent evidence of benefits is still lacking due to the lack of and therefore need for tailored and pragmatic clinical trials with high methodological quality.
Topics: Exercise Therapy; Humans; Migraine Disorders; Musculoskeletal Abnormalities; Physical Examination; Physical Therapy Modalities; Postural Balance; Vestibular Diseases
PubMed: 31813696
DOI: 10.1016/j.bjpt.2019.11.001 -
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 -
Brain : a Journal of Neurology Oct 2020Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome... (Review)
Review
Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.
Topics: Cerebral Cortex; Consensus; Europe; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Neuroimaging; Practice Guidelines as Topic
PubMed: 32779696
DOI: 10.1093/brain/awaa174 -
Developmental Dynamics : An Official... Mar 2021The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue... (Review)
Review
The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.
Topics: Age Factors; Ehlers-Danlos Syndrome; Humans; Joint Instability; Sex Factors
PubMed: 32629534
DOI: 10.1002/dvdy.220 -
Birth Defects Research Nov 2019Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth...
BACKGROUND
Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014.
METHODS
Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time.
RESULTS
The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18.
CONCLUSION
National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.
Topics: Adult; Cardiovascular Abnormalities; Central Nervous System Diseases; Congenital Abnormalities; Eye Diseases; Female; Genetic Diseases, Inborn; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Middle Aged; Musculoskeletal Diseases; Population Surveillance; Pregnancy; Prevalence; Registries; United States; Young Adult
PubMed: 31580536
DOI: 10.1002/bdr2.1589 -
Current Nutrition Reports Dec 2021Dysautonomia and hypermobility syndrome are two distinct but often overlapping clinical conditions that are recognized for their complex multiorgan system afflictions.... (Review)
Review
PURPOSE OF REVIEW
Dysautonomia and hypermobility syndrome are two distinct but often overlapping clinical conditions that are recognized for their complex multiorgan system afflictions. The purpose of this review is to investigate dietary strategies to reduce symptoms and augment quality of life in this growing patient population.
RECENT FINDINGS
There is increasing evidence supporting dietary modifications to include food rich in probiotics and prebiotics, along with fiber supplements to reduce gastrointestinal symptoms. Adequate salt and fluid intake may reduce orthostatic hypotension symptoms. Dietary supplements may help with osteoarticular, musculoskeletal, and fatigue symptoms. Individualized diet strategies and supplements can reduce the multiorgan system symptoms observed in dysautonomia and hypermobility syndrome.
Topics: Ehlers-Danlos Syndrome; Fatigue; Humans; Joint Instability; Primary Dysautonomias; Quality of Life
PubMed: 34510391
DOI: 10.1007/s13668-021-00373-1