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Journal of Cardiovascular Development... Apr 2024Lyme disease often leads to cardiac injury and electrophysiological abnormalities. This study aimed to explore links between atrioventricular blocks and additional... (Review)
Review
Lyme disease often leads to cardiac injury and electrophysiological abnormalities. This study aimed to explore links between atrioventricular blocks and additional arrhythmias in Lyme carditis patients. This systematic review and meta-analysis of existing literature was performed from 1990 to 2023, and aimed to identify cases of Lyme carditis through serology or clinical diagnosis with concomitant arrhythmias. Pubmed and Web of Science were searched using appropriate MESH terms. Patients were divided into groups with atrioventricular blocks and other arrhythmias for cardiovascular (CV) outcome assessment. A total of 110 cases were analyzed. The majority (77.3%) were male, with mean age = 39.65 ± 14.80 years. Most patients presented within one week of symptom onset (30.9%). Men were more likely to have first-degree atrioventricular blocks (OR = 1.36 [95% CI 1.12-3.96], = 0.01); these blocks tended to be reversible in nature (OR = 1.51 [95% CI 1.39-3.92], = 0.01). Men exhibited a higher likelihood of experiencing variable arrhythmias (OR = 1.31 [95% CI 1.08-2.16], < 0.001). Ventricular and supraventricular arrhythmias were more likely to exhibit instability (OR = 0.96 [95% CI 0.81-1.16] = 0.01) and variability (OR = 1.99 [95% CI 0.47-8.31], < 0.001). Men with Lyme carditis are likely to present with various atrioventricular blocks. These atrioventricular blocks are benign, and follow a predictable and stable clinical course. Further large-scale studies are warranted to confirm these associations.
PubMed: 38786953
DOI: 10.3390/jcdd11050131 -
PloS One 2024Adolescent idiopathic scoliosis (AIS) is a spinal deformity that affects approximately 4% of the world's population. Several hypotheses regarding the etiology of AIS...
BACKGROUND
Adolescent idiopathic scoliosis (AIS) is a spinal deformity that affects approximately 4% of the world's population. Several hypotheses regarding the etiology of AIS have been investigated. In the last decades, impaired visual-spatial perception, alterations in spatial body orientation and sensory integration deficits have been documented.
OBJECTIVE
We aimed to summarize the neurophysiological, balance, and motion evidence related to AIS published in the last fifteen years, between January 2008 and April 2023. Both observational and interventional studies were considered. Only studies using quantitative assessment methods, such as electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), somatosensory evoked potentials, force platform, or motion capture, were included.
METHODS
1250 eligible records identified from online database searching were filtered by duplicate removal, title and abstract screening, and qualitative analysis. 61 articles met the inclusion criteria (i.e., Cobb range 10°-35°, age range 10-18 years) and were summarized.
RESULTS
We found significant evidence of impaired standing balance in individuals with AIS who greatly rely on visual and proprioceptive information to stay upright. EMG studies frequently reported an increased activity on the convex side of the intrinsic spinae muscles. EEG data show increased delta and theta power, higher alpha peak frequencies, and significant suppression in the alpha and beta bands in subjects with AIS during standing tasks. MRI studies report changes in white matter structures, differences in the vestibular system, and abnormal cortical activations over motor-related areas in subjects with AIS. Bracing appears to be an effective treatment for AIS, leading to improvements in static balance and gait. Methodological issues prevent reliable conclusions about the effects of other treatment options.
CONCLUSIONS
This review underscores the importance of quantitative assessment methods to explore the etiology and pathophysiology of AIS. Further research is needed to measure the impact of physical therapy and orthotic treatments on the neurophysiological mechanisms of the disease.
Topics: Humans; Scoliosis; Adolescent; Postural Balance; Electroencephalography; Magnetic Resonance Imaging; Electromyography; Evoked Potentials, Somatosensory; Child; Female
PubMed: 38776317
DOI: 10.1371/journal.pone.0303086 -
Orphanet Journal of Rare Diseases May 2024Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis.... (Review)
Review
BACKGROUND
Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have primarily been described in case reports. Systematic studies are scarce. This systematic review aims to assess the pathophysiology, clinical characteristics, and outcomes of RDEB-cSCCs, with a focus on results and mechanisms of recent immunotherapies and anti-EGFR treatments.
RESULTS
A systematic literature search of epidermolysis bullosa and cSCC was performed in February 2024, using PubMed, Embase, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, and EudraCT databases. Cases with administration of systematic therapies and unpublished outcomes regarding death were tracked with corresponding authors. Data extraction and risk of bias assessment was performed by two independent reviewers. Of 1132 references in the original search, 163 relevant articles were identified, representing 59 case reports, 7 cohort studies, 49 abstracts, 47 in-vitro/in-vivo experiments, and 1 bioinformatic study. From these, 157 cases of RDEB-cSCCs were included. The majority of RDEB-cSCCs were well-differentiated (64.1%), ulcerated (59.6%), and at least 2 cm in size (77.6%), with a median age at diagnosis of 30 years old (range 6-68.4). Surgery was the primary form of treatment (n = 128), followed by chemotherapy and radiotherapy. Anti-EGFR therapy and immunotherapy was also reported beginning in 2009 and 2019, respectively. Survival time from first cSCC diagnosis to death was available in 50 cases. When stratified by their treatment regimen, median survival time was 1.85 years (surgery + chemotherapy, n = 6), 2 years (surgery only, n = 19), 4.0 years (+ anti-EFGR therapy, n = 10), 4 years (surgery + radiotherapy, n = 9), 4.6 years (+ immunotherapy, n = 4), and 9.5 years (surgery + chemotherapy + radiotherapy; n = 2). Treatment-related adverse events were primarily limited to impaired wound healing for immunotherapies and nausea and fatigue for anti-EGFR therapies.
CONCLUSIONS
Despite the challenges of a limited sample size in a rare disease, this systematic review provides an overview of treatment options for cSCCs in RDEB. When surgical treatment options have been exhausted, the addition of immunotherapy and/or anti-EGFR therapies may extend patient survival. However, it is difficult to attribute extended survival to any single treatment, as multiple therapeutic modalities are often used to treat RDEB-cSCCs.
Topics: Humans; Epidermolysis Bullosa Dystrophica; Skin Neoplasms; Carcinoma, Squamous Cell; Immunotherapy
PubMed: 38769503
DOI: 10.1186/s13023-024-03190-1 -
La Clinica Terapeutica 2024Variations in cystic artery anatomy are not unusual in occurrence, hence considerably crucial during hepatobiliary surgical planning and execution. This systematic... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Variations in cystic artery anatomy are not unusual in occurrence, hence considerably crucial during hepatobiliary surgical planning and execution. This systematic review and meta-analysis of the anatomical variations of cystic artery (CA) was undertaken to emphasize their significance in surgical practice.
METHODS
The PICO model was adopted, both MeSH term and free keywords were utilized for the search strategy. The risk of bias in each study was calculated by the anatomy quality assurance (AQUA) tool.
RESULT
The search strategy identified 8204 records, extracted 5529 studies, and evaluated 117 abstracts. Out of these 117 studies, 53 met the eligibility criteria. The CA was absent in 2% of instances (95% CI: 0.01-0.04), indicating that 98% of cases had the CA. In 10071 participants from 29 investigations, double cystic arteries were found in 13% (95% CI: 11-16%), with significant heterogeneity (I2 = 91%). In 46 studies with a total of 9928 participants, 89% of the individuals had CA originating from RHA (95% CI: 85%-92%) with significant heterogeneity (I2=94.3%) and a predictive range of 43%-99%.
CONCLUSION
The cystic artery is primarily derived from the right hepatic artery, followed by aberrant, proper, and left hepatic arteries. It is located anterior to common hepatic ducts and cystic ducts. The mean length and diameter of CA were 20.77 mm and 1.91 mm Short cystic arteries are common (20%) Congenital anomalies like absent and double cystic arteries have low prevalence but must be conside-red during surgery.
Topics: Humans; Hepatic Artery; Anatomic Variation
PubMed: 38767077
DOI: 10.7417/CT.2024.5061 -
North American Spine Society Journal Jun 2024Chin-on-chest deformity is a rare and severely disabling condition characterized by kyphotic deformity in the cervicothoracic spine. To treat this deformity, various... (Review)
Review
Clinical and radiologic outcomes of posterior column extension, pedicle subtraction, and vertebral column resection osteotomies in adult chin on chest deformity: A systematic review.
BACKGROUND
Chin-on-chest deformity is a rare and severely disabling condition characterized by kyphotic deformity in the cervicothoracic spine. To treat this deformity, various osteotomy techniques were described.
METHODS
A comprehensive literature search of biomedical databases including MEDLINE (via PubMed), Scopus (via Elsevier), Embase (via Elsevier), and Cochrane Library in English from 1/1/1990 to 3/31/2022 was conducted using a combination of text and Medical Subject Headings (MeSH).
RESULTS
The final analysis included 16 studies. All the studies were assigned a level of evidence of four. Except for two articles, all of the articles were non-comparative studies. A total of 288 patients were included in this review. Of the 288 patients, 107 underwent posterior column extension osteotomy (PCEO), 108 underwent pedicle subtraction osteotomy (PSO), and 33 underwent vertebral column resection osteotomy (VCRO). The most common osteotomy level in fifteen of the studies was C7/T1. The studies included in this review described several techniques for cervical sagittal balance correction. The range of preoperative and postoperative visual analogue scale (VAS) scores was 5.5-8.6 to 1.7-4.91, respectively. The range of preoperative and postoperative neck disability index (NDI) was 34.2-65.4 to 22.1-51.3, respectively. The most common complications were upper extremity paresthesia and hand numbness through the C8 dermatome distribution.
CONCLUSIONS
Corrective osteotomies provide satisfactory results in patients with chin-on-chest deformity; however, the quality of the included studies limits the evidence.
PubMed: 38765779
DOI: 10.1016/j.xnsj.2024.100324 -
American Journal of Obstetrics and... May 2024Nonchromosomal congenital anomalies (NCAs) are the most common cause of infant mortality and morbidity. The role of maternal age is well known, although the specifics... (Review)
Review
Very young and advanced maternal age strongly elevates the occurrence of nonchromosomal congenital anomalies: a systematic review and meta-analysis of population-based studies.
BACKGROUND
Nonchromosomal congenital anomalies (NCAs) are the most common cause of infant mortality and morbidity. The role of maternal age is well known, although the specifics are not thoroughly elucidated in the literature.
OBJECTIVE
To evaluate the role of maternal age in the incidence of NCAs and to pinpoint age groups at higher risk to refine screening protocols.
STUDY DESIGN
A systematic review and meta-analysis were conducted following the PRISMA 2020 guidelines and Cochrane Handbook. Searches were performed on October 19, 2021, across MEDLINE (via PubMed), Cochrane Library (CENTRAL), and Embase. Population-based studies assessing the impact of maternal age on the incidence of NCAs in pregnant women were included, without restrictions on age range, country, or comorbidities. A random-effects model was used for pooling effect sizes, considering the heterogeneity across studies.
RESULTS
From 15,547 studies, 72 were synthesized. Maternal age >35 showed an increased NCA risk (risk ratio [RR]: 1.31, confidence interval [CI]: 1.07 -1.61), rising notably after>40 (RR: 1.44, CI: 1.25 -1.66). The latter changes to 1.25 (CI: 1.08 -1.46) if the co-occurrence of chromosomal aberrations is excluded. Specific anomalies like cleft lip/palate (>40, RR: 1.57, CI: 1.11 -2.20) and circulatory system defects (>40, RR: 1.94, CI: 1.28 -2.93) were significantly associated with advanced maternal age. Conversely, gastroschisis was linked to mothers <20 (RR: 3.08, CI: 2.74 -3.47).
CONCLUSION
The study confirms that both very young and advanced maternal ages significantly increase the risk of NCAs. There is a pressing need for age-specific prenatal screening protocols to better detect these anomalies, especially considering the current trend of delayed childbearing. Further research is required to fully understand the impact of maternal age on the prevalence of rarer NCAs.
PubMed: 38761840
DOI: 10.1016/j.ajog.2024.05.010 -
Clinical Neurophysiology : Official... Jul 2024This systematic review aimed to evaluate if event-related potentials (ERPs) can be a relevant tool for cognitive dysfunction diagnosis in Multiple Sclerosis (MS). (Review)
Review
OBJECTIVE
This systematic review aimed to evaluate if event-related potentials (ERPs) can be a relevant tool for cognitive dysfunction diagnosis in Multiple Sclerosis (MS).
METHODS
Four databases were consulted (PubMed, Embase, Scielo, and Web of Science). The included studies should include adults with clear MS diagnoses, independently of having cognitive complaints, and all should have been submitted to ERPs (P300, N400 or mismatch negativity (MMN)). The main outcomes evaluated were ERPs' amplitude and/or latency.
RESULTS
425 studies were obtained initially from all databases, with 26 studies fulfilling the eligibility criteria. P300 was the most used ERP (25 studies), showing a reduced amplitude or an increased latency in 84% of those. N400 was evaluated in one study, showing also abnormal results. MMN was addressed in two studies with inconsistent findings. Some studies further suggest that ERPs may show earlier abnormal results compared with neuropsychological tests.
CONCLUSIONS
Most MS patient groups revealed ERP abnormalities, suggesting that these neurophysiological tests may be a relevant and appropriate diagnostic aid method for cognitive impairment in MS.
SIGNIFICANCE
The use of ERPs in MS patients seems able to demonstrate cognitive impairment and its use should be considered as part of the regular patient evaluation.
Topics: Humans; Multiple Sclerosis; Evoked Potentials; Cognitive Dysfunction; Electroencephalography
PubMed: 38759513
DOI: 10.1016/j.clinph.2024.04.024 -
Cureus Apr 2024Rheumatoid arthritis (RA) is an autoimmune chronic inflammatory joint disease associated with pain, swelling, and morning stiffness. It not only affects the joints but... (Review)
Review
Rheumatoid arthritis (RA) is an autoimmune chronic inflammatory joint disease associated with pain, swelling, and morning stiffness. It not only affects the joints but also exhibits many extra-articular manifestations. It is recognized as an independent risk factor for cardiovascular (CV) abnormalities. The possibility of cardiovascular disease (CVD) risk in patients with RA is about twofold higher compared to non-RA individuals. Therefore, early risk assessment and management of risk factors are crucial to reduce the CV morbidity and mortality associated with RA. This systematic literature review summarizes the data available on the management of CVD risk factors in RA. A total of 61 articles from the most reputable journals published between 2013 and 2023 were reviewed, of which seven papers were selected for in-depth analysis. We tried to eliminate bias using various bias-eliminating tools. This analysis considers the proposed solution for CV risk prevention and management in RA patients. Optimal control of disease activity and persistent monitoring of other factors responsible for increased CV events in RA patients is the ultimate management of CV abnormalities. This study summarizes the recommendations for the management of CV risk factors in patients with RA.
PubMed: 38756324
DOI: 10.7759/cureus.58409 -
BMC Medical Imaging May 2024To undertake a systematic review to assess the accuracy of fetal MRI in diagnosis of non-CNS congenital anomalies of the fetal body in comparison with antenatal... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To undertake a systematic review to assess the accuracy of fetal MRI in diagnosis of non-CNS congenital anomalies of the fetal body in comparison with antenatal ultrasound when correlated to postnatal diagnosis.
METHODS
Searches were conducted from electronic databases, key journals and reference lists for eligible papers. Inclusion criteria was original research studies comparing the diagnostic results of antenatal ultrasound, fetal MRI and final postnatal diagnosis via imaging, surgery or post-mortem testing. Studies of CNS anomalies were excluded. Studies were assessed for risk of bias by two reviewers working independently and data was then extracted by a single reviewer.
RESULTS
12 studies were included with a total of 361 eligible patients who underwent USS and MRI and had a postnatal diagnosis. USS alone had a diagnostic accuracy of 60.6% whereas MRI had an improved diagnostic accuracy of 86.4%. The overall odds ratio was 0.86 (CI 0.202-1.519 and p-value < 0.01).
CONCLUSION
Fetal MRI makes a significant contribution to accurate diagnosis of congenital abnormalities of the fetal body; especially in genito-urinary anomalies. More research is needed to improve the evidence base for the role of fetal MRI in diagnosis of congenital anomalies in other body systems.
Topics: Humans; Magnetic Resonance Imaging; Prenatal Diagnosis; Female; Pregnancy; Congenital Abnormalities; Sensitivity and Specificity; Reproducibility of Results; Ultrasonography, Prenatal
PubMed: 38755547
DOI: 10.1186/s12880-024-01286-5 -
PloS One 2024Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down's syndrome (DS). The introduction of this test, which may have implications for important decisions made during pregnancy, requires continual monitoring and evaluation. This systematic review aims to assess the extent of NIPT introduction into national screening programmes for DS worldwide, its uptake, and impact on pregnancy outcomes.
METHODS AND FINDINGS
The study protocol was published in PROSPERO (CRD42022306167). We systematically searched MEDLINE, CINAHL, Scopus, and Embase for population-based studies, government guidelines, and Public Health documents from 2010 onwards. Results summarised the national policies for NIPT implementation into screening programmes geographically, along with population uptake. Meta-analyses estimated the pooled proportions of women choosing invasive prenatal diagnosis (IPD) following a high chance biochemical screening result, before and after NIPT was introduced. Additionally, we meta-analysed outcomes (termination of pregnancy and live births) amongst high chance pregnancies identified by NIPT. Results demonstrated NIPT implementation in at least 27 countries. Uptake of second line NIPT varied, from 20.4% to 93.2% (n = 6). Following NIPT implementation, the proportion of women choosing IPD after high chance biochemical screening decreased from 75% (95% CI 53%, 88%, n = 5) to 43% (95%CI 31%, 56%, n = 5), an absolute risk reduction of 38%. A pooled estimate of 69% (95% CI 52%, 82%, n = 7) of high chance pregnancies after NIPT resulted in termination, whilst 8% (95% CI 3%, 21%, n = 7) had live births of babies with DS.
CONCLUSIONS
NIPT has rapidly gained global acceptance, but population uptake is influenced by healthcare structures, historical screening practices, and cultural factors. Our findings indicate a reduction in IPD tests following NIPT implementation, but limited pre-NIPT data hinder comprehensive impact assessment. Transparent, comparable data reporting is vital for monitoring NIPT's potential consequences.
Topics: Humans; Down Syndrome; Female; Pregnancy; Noninvasive Prenatal Testing; Prenatal Diagnosis; Pregnancy Outcome
PubMed: 38753891
DOI: 10.1371/journal.pone.0298643