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Pediatric Radiology Sep 2023Different screening strategies for developmental dysplasia of the hip (DDH) exist. Despite screening efforts, cases of late presentation continue to occur, often... (Meta-Analysis)
Meta-Analysis Review
Different screening strategies for developmental dysplasia of the hip (DDH) exist. Despite screening efforts, cases of late presentation continue to occur, often necessitating surgery. This systematic review and meta-analysis assess the effect of newborn selective ultrasound screening for DDH on the incidence of late presentation in infants and children, compared to a universal ultrasound strategy. A systematic search across Medline and EMBASE databases was performed between January 1950 and February 2021. A consensus-based evaluation of abstracts led to retrieval of relevant full text, original articles or systematic reviews in English only. These were assessed according to agreed eligibility criteria, and their reference lists were reviewed to identify additional eligible publications. Following final consensus on included publications, data was extracted, analysed and reported as per PRISMA and Prospero (CRD42021241957) guidelines. The 16 eligible studies consisted of 2 randomised controlled trials and 14 cohort studies, published between 1989 and 2014, with a total of 511,403 participants. In total, 121,470 (23.8%) received a neonatal hip ultrasound, of whom 58,086 and 63,384 were part of a selective or a universal ultrasound screening strategy, respectively. The difference in the proportion of late presentation between the universal and selective strategies was 0.0904 per 1,000 (P = 0.047). The time effect, i.e. the difference between early and late presentation defined respectively, as less than and more than 3 months of age, regardless of screening strategy, was not significant (P = 0.272). Although there was variability in study design and reporting, the quality of the evidence, based on the critical appraisal skills programme appraisal tools, was generally good. Compared to universal ultrasound screening for DDH, selective screening resulted in a slightly higher rate of late presentation. Uniformity in design and reporting of DDH studies and a cost-effectiveness analysis are needed.
Topics: Infant, Newborn; Infant; Child; Humans; Hip Dislocation, Congenital; Incidence; Developmental Dysplasia of the Hip; Neonatal Screening; Ultrasonography
PubMed: 37099154
DOI: 10.1007/s00247-023-05666-x -
Frontiers in Pediatrics 2023Several studies have been conducted on structural congenital anomalies (CA). However, there is a paucity of studies that provide a comprehensive review of structural... (Review)
Review
BACKGROUND
Several studies have been conducted on structural congenital anomalies (CA). However, there is a paucity of studies that provide a comprehensive review of structural anomalies. We aimed to verify the available research articles to pool the possible risk factors of structural CA in resource-limited settings.
SETTING
The research articles were genuinely searched using PubMed, Scopus, Cochrane Library, Web of Science, free Google database search engines, Google Scholar, and ScienceDirect databases. Published studies were searched and screened for inclusion in the final analysis, and studies without sound methodologies and review and meta-analysis were not included in the analysis.
PARTICIPANTS
This review analyzed data from 95,755 women who gave birth as reported by primary studies. Ten articles were included in this systematic review and meta-analysis. The articles that had incomplete information and case reports were excluded from the study.
RESULTS
The overall pooled effect estimate (EI) of structural CA was 5.50 (4.88-6.12) per 100 births. In this systematic review and meta-analysis, maternal illness EI with odds ratio (OR) = 4.93 (95% CI: 1.02-8.85), unidentified drug use with OR = 2.83 (95% CI: 1.19-4.46), birth weight with OR = 4.20 (95% CI: 2.12-6.28), chewing chat with OR = 3.73 (95% CI: 1.20-6.30), chemical exposure with OR = 4.27 (95% CI: 1.19-8.44), and taking folic acid tablet during pregnancy with OR = 6.01 (95% CI: 2.87-14.89) were statistically significant in this meta-regression.
CONCLUSIONS
The overall pooled effect estimate of structural CA in a resource-limited setting was high compared to that in countries with better resources. Maternal illness, unidentified drug use, birth weight, chewing chat, chemical exposure, and never using folic acid were found to be statistically significant variables in the meta-regression. Preconception care and adequate intake of folic acid before and during early pregnancy should be advised.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022384838.
PubMed: 38027285
DOI: 10.3389/fped.2023.1146384 -
Frontiers in Endocrinology 2023Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital...
BACKGROUND
Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.
METHODS
In this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.
CONCLUSIONS
According to the literature and to our experience, NS patients seem to have a delay in puberty onset compared to the physiological timing reported in healthy children. Males with NS seem to be at risk of gonadal dysfunction secondary not only to cryptorchidism but also to other underlying developmental factors including the MAP/MAPK pathway and genetics. Long-term data on a large cohort of males and females with NS are needed to better understand the impact of delayed puberty on adult height, metabolic profile and well-being. The role of genetic counselling and fertility related-issues is crucial.
Topics: Male; Child; Adult; Female; Humans; Noonan Syndrome; Cryptorchidism; Gonads; Puberty; Mitogen-Activated Protein Kinases
PubMed: 37576960
DOI: 10.3389/fendo.2023.1213098 -
Journal of Magnetic Resonance Imaging :... Apr 2024The respiratory consequences of acute COVID-19 infection and related symptoms tend to resolve 4 weeks post-infection. However, for some patients, new, recurrent, or... (Review)
Review
The respiratory consequences of acute COVID-19 infection and related symptoms tend to resolve 4 weeks post-infection. However, for some patients, new, recurrent, or persisting symptoms remain beyond the acute phase and persist for months, post-infection. The symptoms that remain have been referred to as long-COVID. A number of research sites employed Xe magnetic resonance imaging (MRI) during the pandemic and evaluated patients post-infection, months after hospitalization or home-based care as a way to better understand the consequences of infection on Xe MR gas-exchange and ventilation imaging. A systematic review and comprehensive search were employed using MEDLINE via PubMed (April 2023) using the National Library of Medicine's Medical Subject Headings and key words: post-COVID-19, MRI, Xe, long-COVID, COVID pneumonia, and post-acute COVID-19 syndrome. Fifteen peer-reviewed manuscripts were identified including four editorials, a single letter to the editor, one review article, and nine original research manuscripts (2020-2023). MRI and MR spectroscopy results are summarized from these prospective, controlled studies, which involved small sample sizes ranging from 9 to 76 participants. Key findings included: 1) Xe MRI gas-exchange and ventilation abnormalities, 3 months post-COVID-19 infection, and 2) a combination of MRI gas-exchange and ventilation abnormalities alongside persistent symptoms in patients hospitalized and not hospitalized for COVID-19, 1-year post-infection. The persistence of respiratory symptoms and Xe MRI abnormalities in the context of normal or nearly normal pulmonary function test results and chest computed tomography (CT) was consistent. Longitudinal improvements were observed in long-term follow-up of long-COVID patients but mean Xe gas-exchange, ventilation heterogeneity values and symptoms remained abnormal, 1-year post-infection. Pulmonary functional MRI using inhaled hyperpolarized Xe gas has played a role in detecting gas-exchange and ventilation abnormalities providing complementary information that may help develop our understanding of the root causes of long-COVID. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY: Stage 5.
Topics: Humans; Post-Acute COVID-19 Syndrome; Xenon Isotopes; Prospective Studies; COVID-19; Lung; Magnetic Resonance Imaging
PubMed: 37548112
DOI: 10.1002/jmri.28940 -
Cureus Sep 2023A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive... (Review)
Review
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN. Atypical PKAN is distinguished by a later onset (>10 years), noticeable speech abnormalities, psychological disorders, and slower disease development. Studies designed to support various PKAN therapeutic strategies have highlighted the intricacy of coenzyme A (CoA) metabolism and the limitations of our present understanding of disease causation. Therefore, improvements in our knowledge of the causes and therapy of PKAN may have ramifications for our comprehension of other, more prevalent diseases. They may also shed fresh light on the physiological significance of CoA, a cofactor essential for the operation of several cellular metabolic processes. The existence of low but considerable PANK2 expression, which can be elevated in some mutations, provides necessary information that can justify using a hefty dose of pantothenate as a treatment. A more effective therapeutic approach can be achieved by comparing the effects of various currently available pharmacological alternatives on the pathophysiological alterations in fibroblasts and neuronal cells obtained from PKAN patients. The objective of this study is to educate and inform people about PKAN disease conditions such as treatment, diagnosis, and complications. These cell models will also help evaluate the effectiveness of future medicinal innovations. This review discusses the neurodegeneration generated by pantothenate kinase in cellular models, iron/lipofuscin in pantothenate kinase-related neurodegeneration, and treatment and diagnosis of PKAN.
PubMed: 37900501
DOI: 10.7759/cureus.46135 -
Heliyon Jul 2023Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye.... (Review)
Review
Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye. Mutations in the transcription factors or are the most well-studied genetic manifestations of this syndrome. Due to the rarity this syndrome, ARS-associated neurological manifestations have not been well characterized. The purpose of this systematic review is to characterize and describe ARS neurologic manifestations that affect the cerebral vasculature and their early and late sequelae. PRISMA guidelines were followed; studies meeting inclusion criteria were analyzed for study design, evidence level, number of patients, patient age, whether the patients were related, genotype, ocular findings, and nervous system findings, specifically neurostructural and neurovascular manifestations. 63 studies met inclusion criteria, 60 (95%) were case studies or case series. The gene was most commonly found, followed by , then . The most commonly described structural neurological findings were white matter abnormalities in 26 (41.3%) of studies, followed by Dandy-Walker Complex 12 (19%), and agenesis of the corpus callosum 11 (17%). Neurovascular findings were examined in 6 (9%) of studies, identifying stroke, cerebral small vessel disease (CSVD), tortuosity/dolichoectasia of arteries, among others, with no mention of moyamoya. This is the first systematic review investigating the genetic, neurological, and neurovascular associations with ARS. Structural neurological manifestations were common, yet often benign, perhaps limiting the utility of MRI screening. Neurovascular abnormalities, specifically stroke and CSVD, were identified in this population. Stroke risk was present in the presence and absence of cardiac comorbidities. These findings suggest a relationship between ARS and neurovascular findings; however, larger scale studies are necessary inform therapeutic decisions.
PubMed: 37539177
DOI: 10.1016/j.heliyon.2023.e18225 -
Journal of Orthopaedic Surgery and... Oct 2023This study aimed to investigate the correlation between the MRI high-intensity zone (HIZ) and the pathogenesis of discogenic low back pain. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This study aimed to investigate the correlation between the MRI high-intensity zone (HIZ) and the pathogenesis of discogenic low back pain.
METHODS
Literature from PubMed, EMBASE, Cochrane Library, Science Direct, China Knowledge Network, Wanfang Database, and China Biomedical Literature Database was searched until August 2023. Cohort studies including patients with low back pain who underwent lumbar spine MRI and discography, as well as the results evaluating the correlation between HIZ and discography for morphological changes in the disc and pain replication phenomena, were included in the analysis. The literature that met the inclusion criteria was screened, and the methodological quality of the included studies was evaluated. Meta-analysis of the extracted data was performed by using RevMan 5.1.1.
RESULTS
In total, 28 reports were included in this meta-analysis. There was a statistically significant correlation between a positive HIZ and abnormal disc morphology in discography (OR 28.15, 95% CI [7.38, 107.46], p < 0.00001). Patients with HIZ-positive discs had a significantly higher incidence of consistent pain (71.0%, 969/1365) than those with HIZ-negative imaging (29.0%, 1314/4524) (OR 7.71, 95% CI [5.29, 11.23], p < 0.00001).Segments that were HIZ-positive and had abnormal disc morphology had a higher incidence of consistent pain (86.1%, 230/267) than HIZ-negative subjects (32.2%, 75/233) (OR 14.09, 95% CI [2.12, 93.48], p = 0.006).
CONCLUSION
A positive MRI T2-weighted image of the lumbar disc with HIZ indicates disc degeneration. In addition, HIZ may be a specific indicator for the physical diagnosis of discogenic low back pain. A more advanced degree of disc degeneration on the basis of HIZ positivity corresponded to a greater probability of discography-induced consistent pain, whereas the degree of disc degeneration on the basis of HIZ negativity was less correlated with contrast-induced consistent pain.
Topics: Humans; Low Back Pain; Intervertebral Disc Degeneration; Intervertebral Disc; Magnetic Resonance Imaging; Lumbosacral Region; Lumbar Vertebrae; Intervertebral Disc Displacement
PubMed: 37805519
DOI: 10.1186/s13018-023-04187-5 -
Jornal de Pediatria 2023Meckel diverticulum (MD) is a common malformation of the digestive tract, often accompanied by serious complications. It is important to find safe and effective... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Meckel diverticulum (MD) is a common malformation of the digestive tract, often accompanied by serious complications. It is important to find safe and effective diagnostic methods for screening MD. The aim of this study was to evaluate the effectiveness of a technetium-99m (Tc-99m) scan for pediatric bleeding MD.
METHODS
The authors conducted a systematic review of studies published in PubMed, Embase, and Web of Science before 1 January 2023. Studies based on PICOS were included in this systematic review. The flow chart was made by PRISMA software. The quality of included studies was assessed by RevMan5 software (QUADAS-2: Quality Assessment of Diagnostic Accuracy Studies-2). The sensitivity, specificity, and other measurements of accuracy were pooled using Stata/SE 12.0 software.
RESULTS
Sixteen studies with 1115 children were included in this systematic review. A randomized-effects model was used for the meta-analysis because of significant heterogeneity. The combined sensitivity and specificity were 0.80 [Confidence Interval (95% CI, 0.73-0.86) and 0.95 (95% CI, 0.86-0.98)], respectively. The area under the curve (AUC) was 0.88 (95% CI, 0.85-0.90). Publication bias (Begg's test p = 0.053) was observed.
CONCLUSION
Tc-99m scan has high specificity, but moderate sensitivity, which is always influenced by some factors. Hence, the Tc-99m scan has some limitations in the diagnosis of pediatric bleeding MD.
Topics: Child; Humans; Technetium; Meckel Diverticulum; Radionuclide Imaging; Gastrointestinal Hemorrhage; Sensitivity and Specificity
PubMed: 37277097
DOI: 10.1016/j.jped.2023.03.009 -
Frontiers in Medicine 2024Methylene blue is an interesting approach in reducing fluid overload and vasoactive drug administration in vasodilatory shock. The inhibition of guanylate cyclase...
BACKGROUND
Methylene blue is an interesting approach in reducing fluid overload and vasoactive drug administration in vasodilatory shock. The inhibition of guanylate cyclase induced by methylene blue infusion reduces nitric oxide production and improves vasoconstriction. This systematic review and meta-analysis aimed to assess the effects of methylene blue administration compared to placebo on the hemodynamic status and clinical outcomes in patients with sepsis and septic shock.
METHODS
The authors specifically included randomized controlled trials that compared the use of methylene blue with placebo in adult patients with sepsis and septic shock. The outcomes were length of intensive care unit stay, hemodynamic parameters [vasopressor use], and days on mechanical ventilation. We also evaluated the abnormal levels of methemoglobinemia. This systematic review and meta-analysis were recorded in PROSPERO with the ID CRD42023423470.
RESULTS
During the initial search, a total of 1,014 records were identified, out of which 393 were duplicates. Fourteen citations were selected for detailed reading, and three were selected for inclusion. The studies enrolled 141 patients, with 70 of them in the methylene blue group and 71 of them in the control group. Methylene blue treatment was associated with a lower length of intensive care unit stay (MD -1.58; 95%CI -2.97, -0.20; = 25%; = 0.03), decreased days on mechanical ventilation (MD -0.72; 95%CI -1.26, -0.17; = 0%; = 0.010), and a shorter time to vasopressor discontinuation (MD -31.49; 95%CI -46.02, -16.96; = 0%; < 0.0001). No association was found with methemoglobinemia.
CONCLUSION
Administering methylene blue to patients with sepsis and septic shock leads to reduced time to vasopressor discontinuation, length of intensive care unit stay, and days on mechanical ventilation.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023423470, CRD42023423470.
PubMed: 38698779
DOI: 10.3389/fmed.2024.1366062 -
Journal of Clinical Medicine Oct 2023Electrolyte disturbances related to sodium and potassium affect patients with mental disorders undergoing electroconvulsive therapy (ECT). The objective of this study... (Review)
Review
INTRODUCTION
Electrolyte disturbances related to sodium and potassium affect patients with mental disorders undergoing electroconvulsive therapy (ECT). The objective of this study was to systematically summarize the data regarding ECT and electrolyte disturbances related to sodium and potassium.
MATERIALS AND METHODS
A systematic literature review in accordance with PRISMA guidelines was conducted. Clinical studies of patients receiving ECT with electrolyte disturbances reported before or after treatment were included.
RESULTS
We identified nine case reports and two retrospective studies describing electrolyte abnormalities occurring before or after ECT. ECT was effective and safe in patients with hyponatremia and hypernatremia, including the elderly patient population. This treatment was also effective in treating psychiatric symptoms that may persist after ionic equalization. Electrolyte disturbances after ECT were rare. Reports have suggested that succinylcholine used as a muscle relaxant was the main cause of hyperkalemia after ECT.
CONCLUSIONS
Electrolyte control is a crucial aspect of guiding ECT therapy. In the context of sodium-related disorders, it is critical to control patient hydration as part of therapy. In addition, succinylcholine should not be used in patients with immobilization, such as catatonia or neuroleptic malignant syndrome. It is necessary to conduct further studies to clarify whether electrolyte concentration affects ECT parameters and clinical efficacy. In addition, it is necessary to assess the influence of various anesthetics on these conditions during ECT. The result of this review should be interpreted bearing in mind the small number of studies conducted to date and the low quality of the evidence they provide.
PubMed: 37892815
DOI: 10.3390/jcm12206677