-
Heart & Lung : the Journal of Critical... Jun 2024Progressive exercise intolerance is a hallmark of pulmonary hypertension (pH), severely impacting patients' independence and quality of life (QoL). Accumulating evidence... (Review)
Review
Respiratory, cardiovascular and musculoskeletal mechanisms involved in the pathophysiology of pulmonary hypertension: An updated systematic review of preclinical and clinical studies.
BACKGROUND
Progressive exercise intolerance is a hallmark of pulmonary hypertension (pH), severely impacting patients' independence and quality of life (QoL). Accumulating evidence over the last decade shows that combined abnormalities in peripheral reflexes and target organs contribute to disease progression and exercise intolerance.
OBJECTIVE
The aim of this study was to review the literature of the last decade on the contribution of the cardiovascular, respiratory, and musculoskeletal systems to pathophysiology and exercise intolerance in pH.
METHODS
A systematic literature search was conducted using specific terms in PubMed, SciELO, and the Cochrane Library databases for original pre-clinical or clinical studies published between 2013 and 2023. Studies followed randomized controlled/non-randomized controlled and pre-post designs.
RESULTS
The systematic review identified 25 articles reporting functional or structural changes in the respiratory, cardiovascular, and musculoskeletal systems in pH. Moreover, altered biomarkers in these systems, lower cardiac baroreflex, and heightened peripheral chemoreflex activity seemed to contribute to functional changes associated with poor prognosis and exercise intolerance in pH. Potential therapeutic strategies acutely explored involved manipulating the baroreflex and peripheral chemoreflex, improving cardiovascular autonomic control via cardiac vagal control, and targeting specific pathways such as GPER1, GDF-15, miR-126, and the JMJD1C gene.
CONCLUSION
Information published in the last 10 years advances the notion that pH pathophysiology involves functional and structural changes in the respiratory, cardiovascular, and musculoskeletal systems and their integration with peripheral reflexes. These findings suggest potential therapeutic targets, yet unexplored in clinical trials, that could assist in improving exercise tolerance and QoL in patients with pH.
PubMed: 38941771
DOI: 10.1016/j.hrtlng.2024.06.001 -
Medicina (Kaunas, Lithuania) Apr 2024: The pancreas, ensconced within the abdominal cavity, requires a plethora of sophisticated imaging modalities for its comprehensive evaluation, with ultrasonography... (Review)
Review
: The pancreas, ensconced within the abdominal cavity, requires a plethora of sophisticated imaging modalities for its comprehensive evaluation, with ultrasonography serving as a primary investigative technique. A myriad of pancreatic pathologies, encompassing pancreatic neoplasia and a spectrum of inflammatory diseases, are detectable through these imaging strategies. Nevertheless, the intricate anatomical confluence and the pancreas's deep-seated topography render the visualization and accurate diagnosis of its pathologies a formidable endeavor. The objective of our paper is to review the best diagnostic imagistic tools for the pancreas. : we have gathered several articles using Prisma guidelines to determine the best imagistic methods. The imperative of pancreatic scanning transcends its diagnostic utility, proving to be a pivotal element in a multitude of clinical specialties, notably surgical oncology. Within this domain, multidetector computed tomography (MDCT) of the pancreas holds the distinction of being the paramount imaging modality, endorsed for its unrivaled capacity to delineate the staging and progression of pancreatic carcinoma. In synergy with MDCT, there has been a notable advent of avant-garde imaging techniques in recent years. These advanced methodologies, including ultrasonography, endoscopic ultrasonography, contrast-enhanced ultrasonography, and magnetic resonance imaging (MRI) conjoined with magnetic resonance cholangiopancreatography (MRCP), have broadened the horizon of tumor characterization, offering unparalleled depth and precision in oncological assessment. Other emerging diagnostic techniques, such as elastography, also hold a lot of potential and promise for the future of pancreatic imaging. Fine needle aspiration (FNA) is a quick, minimally invasive procedure to evaluate lumps using a thin needle to extract tissue for analysis. It is less invasive than surgical biopsies and usually performed as an outpatient with quick recovery. Its accuracy depends on sample quality, and the risks include minimal bleeding or discomfort. Results, guiding further treatment, are typically available within a week. Elastography is a non-invasive medical imaging technique that maps the elastic properties and stiffness of soft tissue. This method, often used in conjunction with ultrasound or MRI, helps differentiate between hard and soft areas in tissue, providing valuable diagnostic information. It is particularly useful for assessing liver fibrosis, thyroid nodules, breast lumps, and musculoskeletal conditions. The technique is painless and involves applying gentle pressure to the area being examined. The resulting images show tissue stiffness, indicating potential abnormalities. Elastography is advantageous for its ability to detect diseases in early stages and monitor treatment effectiveness. The procedure is quick, safe, and requires no special preparation, with results typically available immediately. : The assembled and gathered data shows the efficacy of various techniques in discerning the nature and extent of neoplastic lesions within the pancreas. : The most common imaging modalities currently used in diagnosing pancreatic neoplasms are multidetector computed tomography (MDCT), endoscopic ultrasound (EUS), and magnetic resonance imaging (MRI), alongside new technologies, such as elastography.
Topics: Humans; Pancreatic Neoplasms; Ultrasonography; Magnetic Resonance Imaging; Multidetector Computed Tomography; Pancreas
PubMed: 38792878
DOI: 10.3390/medicina60050695 -
Children (Basel, Switzerland) Apr 2024CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as... (Review)
Review
CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
PubMed: 38790536
DOI: 10.3390/children11050541 -
JAMA May 2024Delayed diagnosis of a dislocated hip in infants can lead to complex childhood surgery, interruption to family life, and premature osteoarthritis.
IMPORTANCE
Delayed diagnosis of a dislocated hip in infants can lead to complex childhood surgery, interruption to family life, and premature osteoarthritis.
OBJECTIVE
To evaluate the diagnostic accuracy of clinical examination in identifying dislocated hips in infants.
DATA SOURCES
Systematic search of CINAHL, Embase, MEDLINE, and the Cochrane Library from the inception of each database until October 31, 2023.
STUDY SELECTION
The 9 included studies reported the diagnostic accuracy of the clinical examination (index test) in infants aged 3 months or younger and a diagnostic hip ultrasound (reference test). The Graf method of ultrasound assessment was used to classify hip abnormalities.
DATA EXTRACTION AND SYNTHESIS
The Rational Clinical Examination scale was used to assign levels of evidence and the Quality Assessment of Diagnostic Accuracy Studies tool was used to assess bias. Data were extracted using the individual hip as the unit of analysis; the data were pooled when the clinical examinations were evaluated by 3 or more of the included studies.
MAIN OUTCOMES AND MEASURES
Sensitivity, specificity, and likelihood ratios (LRs) of identifying a dislocated hip were calculated.
RESULTS
Among infants screened with a clinical examination and a diagnostic ultrasound in 5 studies, the prevalence of a dislocated hip (n = 37 859 hips) was 0.94% (95% CI, 0.28%-2.0%). There were 8 studies (n = 44 827 hips) that evaluated use of the Barlow maneuver and the Ortolani maneuver (dislocate and relocate an unstable hip); the maneuvers had a sensitivity of 46% (95% CI, 26%-67%), a specificity of 99.1% (95% CI, 97.9%-99.6%), a positive LR of 52 (95% CI, 21-127), and a negative LR of 0.55 (95% CI, 0.37-0.82). There were 3 studies (n = 22 472 hips) that evaluated limited hip abduction and had a sensitivity of 13% (95% CI, 3.3%-37%), a specificity of 97% (95% CI, 87%-99%), a positive LR of 3.6 (95% CI, 0.72-18), and a negative LR of 0.91 (95% CI, 0.76-1.1). One study (n = 13 096 hips) evaluated a clicking sound and had a sensitivity of 13% (95% CI, 6.4%-21%), a specificity of 92% (95% CI, 92%-93%), a positive LR of 1.6 (95% CI, 0.91-2.8), and a negative LR of 0.95 (95% CI, 0.88-1.0).
CONCLUSIONS AND RELEVANCE
In studies in which all infant hips were screened for developmental dysplasia of the hip, the prevalence of a dislocated hip was 0.94%. A positive LR for the Barlow and Ortolani maneuvers was the finding most associated with an increased likelihood of a dislocated hip. Limited hip abduction or a clicking sound had no clear diagnostic utility.
Topics: Female; Humans; Infant; Male; Delayed Diagnosis; Hip Dislocation, Congenital; Hip Joint; Physical Examination; Sensitivity and Specificity; Ultrasonography; Reproducibility of Results; Infant, Newborn; Prevalence
PubMed: 38619828
DOI: 10.1001/jama.2024.2404 -
Congenital Anomalies May 2024Prior studies have explored the links between congenital anomalies and assisted reproduction techniques, among other factors. However, it remains unclear whether a... (Meta-Analysis)
Meta-Analysis
Prior studies have explored the links between congenital anomalies and assisted reproduction techniques, among other factors. However, it remains unclear whether a particular technique harbors an inherent risk of major congenital anomalies, either cumulatively or in an organ-specific manner. A meta-analysis was conducted using relevant studies from inception to February 2023 using six databases and two appropriate registers. Sources of heterogeneity were explored using sub-group analysis, using study weight, risk of bias and geographical location of original studies. Neonates conceived through assisted reproduction appear to have a higher risk of major congenital anomalies compared to naturally conceived neonates, OR 0.67 [95% CI 0.59, 0.76], I = 97%, p < 0.00001, with neonates conceived through intracytoplasmic sperm injection (ICSI) at a 9% higher chance of being affected in comparison to neonates conceived through in vitro fertilization (IVF). The increase in cardiac, gastrointestinal (GI), and neurological congenital anomalies appears to be independent of the assisted reproduction technique, while urogenital and musculoskeletal (MSK) anomalies were found to be increased in ICSI compared with IVF, OR 0.83 [95% CI 0.69, 0.98]; p = 0.03, I = 0%, and OR 0.65 [95% CI 0.49, 0.85]; p = 0.002, I = 80%, respectively. Neonates conceived using assisted reproduction techniques appear to be at higher risk of major congenital anomalies, with a higher risk attributable to conception using ICSI. The increase in cardiac, neurological, and GI congenital anomalies does not appear to be technique-specific, while the opposite held true for urogenital and MSK anomalies.
Topics: Humans; Congenital Abnormalities; Reproductive Techniques, Assisted; Infant, Newborn; Female; Pregnancy; Sperm Injections, Intracytoplasmic; Fertilization in Vitro
PubMed: 38577728
DOI: 10.1111/cga.12561 -
Foot & Ankle Specialist Mar 2024The aim of this study was to evaluate and compare different fixation methods to achieve Tarsometatarsal joint I (TMT-1) arthrodesis in patients with hallux valgus... (Review)
Review
BACKGROUND
The aim of this study was to evaluate and compare different fixation methods to achieve Tarsometatarsal joint I (TMT-1) arthrodesis in patients with hallux valgus regarding radiographic correction, complication profile, and clinical outcomes.
METHODS
A systematic review and meta-analysis included primary literature results of evidence level 1 to 3 studies in German and English. Inclusion and exclusion criteria were established and applied, along with parameters suitable for comparison of data.
RESULTS
16 studies with a total of 1176 participants met the inclusion criteria for this analysis. Twelve evaluation criteria were compared among 3 fixation techniques; comprised of a screw-only, dorsomedial plating- and plantar plating cohort. There was no statistical difference in deformity correction (both intermetatarsal- and hallux valgus angle), or AOFAS score between the cohorts. The complication rate was 13% in the plantar-, 19.5% in the dorsomedial-, and 24.5% in the screw cohort. Nonunion was seen in 0.7% of participants in the plantar, 1.4% in the dorsomedial, and 5.3% in the screw group. The time until complete weightbearing correlated positively with the development of nonunion, with a coefficient of 0.376 (P = .009). Hardware removal was performed in 11.8% of patients in the dorsomedial cohort, 7.7% in the screw cohort, and 3.6% in the plantar cohort.
CONCLUSION
Based on the results of meta-analysis of heterogeneous studies, plantar plating facilitated early weightbearing and patient mobilization compared to the other fixation methods, while carrying the lowest nonunion, hardware removal, and general complication risk. However, owing to the relatively small number of patients in the plantar plating group, more work is necessary to elucidate the benefits of plantar plating for a first tarsometatarsal joint arthrodesis. Development of complications appears to be largely dependent on the fixation model, rather than patient mobilization alone. .
PubMed: 38483102
DOI: 10.1177/19386400241233832 -
The Bone & Joint Journal Mar 2024Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and...
AIMS
Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and making considerable demands on resources. This systematic review aimed to identify what outcome measures have been reported in the literature for children with spinal dysraphism who undergo orthopaedic interventions involving the lower limbs.
METHODS
A PROSPERO-registered systematic literature review was performed following PRISMA guidelines. All relevant studies published until January 2023 were identified. Individual outcomes and outcome measurement tools were extracted verbatim. The measurement tools were assessed for reliability and validity, and all outcomes were grouped according to the Outcome Measures Recommended for use in Randomized Clinical Trials (OMERACT) filters.
RESULTS
From 91 eligible studies, 27 individual outcomes were identified, including those related to clinical assessment (n = 12), mobility (n = 4), adverse events (n = 6), investigations (n = 4), and miscellaneous (n = 1). Ten outcome measurement tools were identified, of which Hoffer's Functional Ambulation Scale was the most commonly used. Several studies used unvalidated measurement tools originally developed for other conditions, and 26 studies developed new measurement tools. On the OMERACT filter, most outcomes reported pathophysiology and/or the impact on life. There were only six patient- or parent-reported outcomes, and none assessed the quality of life.
CONCLUSION
The outcomes that were reported were heterogenous, lack validation and failed to incorporate patient or family perceptions. Until outcomes can be reported unequivocally, research in this area will remain limited. Our findings should guide the development of a core outcome set, which will allow consistency in the reporting of outcomes for this condition.
Topics: Child; Humans; Orthopedics; Quality of Life; Reproducibility of Results; Outcome Assessment, Health Care; Spinal Dysraphism
PubMed: 38423096
DOI: 10.1302/0301-620X.106B3.BJJ-2023-0916.R1 -
European Spine Journal : Official... Apr 2024The objective of this meta-analysis was to determine the incidence of disc degeneration in patients with surgically treated adolescent idiopathic scoliosis (AIS) and... (Meta-Analysis)
Meta-Analysis Review
Incidence and risk factors of distal adjacent disc degeneration in adolescent idiopathic scoliosis patients undergoing fusion surgery: a systematic review and meta-analysis.
PURPOSE
The objective of this meta-analysis was to determine the incidence of disc degeneration in patients with surgically treated adolescent idiopathic scoliosis (AIS) and identify the associated risk factors.
METHODS
PubMed, EMBASE, Scopus, and Cochrane Collaboration Library databases were searched. The outcomes of interest were the incidence of disc degeneration, SRS-22, and radiological risk factors. The lower instrumented vertebra (LIV) was also evaluated. Fixed effects were used if there was no evidence of heterogeneity. Statistical analysis was performed using Review Manager.
RESULTS
A meta-analysis was conducted including nine studies with a total of 565 patients. The analysis revealed that the global incidence of intervertebral disc degeneration in patients with surgically treated AIS patients was 24.78% (95% CI 16.59-32.98%) 10 years after surgery, which significantly increased to 32.32% (95% CI 21.16-43.47% at an average of 13.8 years after surgery. Among patients with significant degenerative disc changes, the SRS-22 functional, self-image, and satisfaction domains showed significantly worse results (MD - 0.25, 95% CI - 0.44 to - 0.05; MD - 0.50, 95% CI - 0.75 to - 0.25; and MD - 0.34, 95% CI - 0.66 to - 0.03, respectively). Furthermore, instrumentation at or above the L3 level was associated with a lower incidence of intervertebral disc degeneration compared to instrumentation below the L3 level (OR 0.25, 95% CI 0.10-0.64). It was also found that the preoperative and final follow-up lumbar curve magnitudes (MD 8.11, 95% CI 3.82-12.41) as well as preoperative and final follow-up lumbar lordosis (MD 0.42, 95% CI - 3.81 to 4.65) were associated with adjacent disc degeneration.
CONCLUSIONS
This meta-analysis demonstrated that the incidence of intervertebral disc degeneration significantly increased with long-term follow-up using fusion techniques, reaching up to 32% when patients were 28 years of age. Incomplete correction of deformity and fusion of levels below L3, were identified as negative prognostic factors. Furthermore, patients with disc degeneration showed worse functional outcomes.
Topics: Adolescent; Humans; Incidence; Intervertebral Disc Degeneration; Lumbar Vertebrae; Risk Factors; Scoliosis; Spinal Fusion; Treatment Outcome
PubMed: 38372794
DOI: 10.1007/s00586-024-08165-1 -
The Surgeon : Journal of the Royal... Jun 2024This study evaluates the clinical outcomes of contemporary total ankle arthroplasty (TAAs) to primarily establish the current benefits and risks to facilitate informed... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This study evaluates the clinical outcomes of contemporary total ankle arthroplasty (TAAs) to primarily establish the current benefits and risks to facilitate informed decision making to secondarily establish if improvements are seen between subsequent generations of implants, bearing philosophy, and associated surgical technique.
METHODS
A systematic review and meta-analysis of published data from January 2000 to January 2020 was conducted following PRISMA guidelines.
INCLUSION CRITERIA
English language papers, adult population, ≥20 ankles with a minimum follow up ≥24 months, pre- and post-operative functional scores available. Ankle implants were characterised by generations, which were determined from the original studies and confirmed based on literature set definitions.
RESULTS
A total of 4642 TAAs in 4487 patients from 51 studies were included. The mean age was 61.9-years and follow up 57.8-months. Overall, 10-year survivorship rates were 77.63 %, with mobile bearing designs showing a small but significant advantage. Improved survivorship favoured the most modern implants at both two (p < 0.05), and 10-years (p < 0.01). The relative risk of a complication occurring improved with the evolution of implants e.g., nerve injury, and post-operative complications such as fracture, wound complications (e.g., dehiscence or heamatoma) and radiological abnormalities (e.g., radiolucencies, heterotopic bone formation and aseptic loosening). However, surgical site infection, and intra-operative fracture rates remain implant independent.
CONCLUSIONS
Modern TAA offers improved survivorship, even with a trend to lower mean implantation age, similar complexity and ever changing indications. It would appear that implant evolution has reduced risks, especially those associated with revision, without affecting functional outcomes.
Topics: Humans; Arthroplasty, Replacement, Ankle; Postoperative Complications; Prosthesis Failure; Joint Prosthesis; Prosthesis Design
PubMed: 38360453
DOI: 10.1016/j.surge.2024.01.004 -
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