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Journal of Clinical Medicine Feb 2024Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor () gene on the long arm of the X chromosome. As a result...
Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli-Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review.
Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor () gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient's gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli-Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient's karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations-a pathogenic frameshift deletion in the gene (c.77delT) and a likely pathogenic missense variant in the gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads ( = 225; age: 4-84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases ( = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2-49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.
PubMed: 38398243
DOI: 10.3390/jcm13040929 -
Frontiers in Psychiatry 2024An estimated 301 million people worldwide suffer from anxiety disorders. People living with HIV/AIDS (PLWHA) are particularly prone to anxiety disorders that could...
BACKGROUND
An estimated 301 million people worldwide suffer from anxiety disorders. People living with HIV/AIDS (PLWHA) are particularly prone to anxiety disorders that could interfere with the important developmental process in an individual's development and ultimately result in a wide range of negative mental, physical, and psychosocial consequences, as well as poor quality of life in those population groups. Early intervention for anxiety disorders can reverse some of the physical damage caused by anxiety. However, based on systematic reviews and meta-analyses, the specific prevalence of anxiety disorders in PLWHA remains unknown.
METHOD
We conducted a literature search on PubMed, Embase, and Web of Science up to 22 October 2022. A random-effects meta-analysis was used to pool prevalence rates from the included studies. Sensitivity and subgroup analyses were performed to identify the possible sources of heterogeneity and to compare the prevalence estimates across groups. The Joanna Briggs Institute's Quality Assessment Checklist was used to assess the quality of the included studies. Cochran's Q and I tests were used to assess the between-study heterogeneity.
RESULTS
Ten studies with a total of 238,570 cases were included for the final analysis. Results showed that 15.5% of HIV/AIDS patients had anxiety disorders. The prevalence was higher in females (20.8%) than males (20.7%). The mean age of PLWHA with anxiety disorders was 46.58 ± 11.15 years in these included studies. The subgroup analyses showed significant higher prevalence in non-heterosexual (32.1%).
CONCLUSION
We attempted to quantify literature that could allow for stronger inferences to be made regarding the significantly higher prevalence of anxiety disorders in PLWHA, a finding that suggests the imperativeness of intervention strategies to alleviate suffering and reduce the probable negative ramifications.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023442219, identifier CRD42023442219.
PubMed: 38380124
DOI: 10.3389/fpsyt.2024.1259290 -
European Journal of Paediatric... Jan 2024Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding... (Review)
Review
BACKGROUND
Children who underwent posterior fossa tumor removal may have spoken or written language impairments. The present systematic review synthesized the literature regarding the language outcomes in this population. Benefits of this work were the identification of shortcomings in the literature and a starting point toward formulating guidelines for postoperative language assessment.
METHODS
A systematic literature search was conducted, identifying studies with patients who had posterior fossa surgery before 18 years of age. Included studies were narratively synthesized to understand language outcomes by language function (e.g., phonology, morphosyntax) at a group and individual level. Furthermore, the influence of several mediators (e.g., postoperative cerebellar mutism syndrome (pCMS), tumor type) was investigated. A critical evaluation of the language assessment tools was conducted.
RESULTS
The narrative synthesis of 66 studies showed that a broad spectrum of language impairments has been described, characterized by a large interindividual heterogeneity. Patients younger at diagnosis, receiving treatment for a high-grade tumor and/or radiotherapy and diagnosed with pCMS seemed more prone to impairment. Several gaps in language assessment remain, such as a baseline preoperative assessment and the assessment of pragmatics and morphosyntax. Further, there were important methodological differences in existing studies which complicated our ability to accurately guide clinical practice.
CONCLUSION
Children who had posterior fossa surgery seem to be at risk for postoperative language impairment. These results stress the need for language follow-up in posterior fossa tumor survivors.
Topics: Child; Humans; Postoperative Complications; Brain Neoplasms; Infratentorial Neoplasms; Cerebellar Diseases; Neurosurgical Procedures; Mutism; Cerebellar Neoplasms
PubMed: 38377646
DOI: 10.1016/j.ejpn.2023.12.005 -
Indian Journal of Dermatology 2023Atopic dermatitis is a chronic inflammatory skin condition common in early childhood. Acute exacerbation is frequently associated with colonization.
BACKGROUND
Atopic dermatitis is a chronic inflammatory skin condition common in early childhood. Acute exacerbation is frequently associated with colonization.
AIMS AND OBJECTIVES
This study aims to explore the relationship between skin and nasal colonization with pediatric atopic dermatitis.
METHODS
A systematic review and meta-analysis were conducted by comparing atopic dermatitis patients aged ≤18 years and nondiseased controls. A random-effects model was used to obtain the pooled prevalence and odds ratio of colonization at eczematous skin, nonlesional skin, and nasal cavity. Subgroup analyses for colonization with methicillin-resistant were also evaluated.
RESULTS
A total of 2,670 cases and 1,224 controls from 26 studies were included in the meta-analysis. colonization at eczematous skin and nasal cavity is significantly higher in atopic dermatitis compared to control with odds ratios of 10.55 (95% confidence interval [CI]; 4.85-22.92, < .001) and 2.38 (nasal cavity; 95% CI; 1.46-3.90, < .001), respectively. The pooled prevalence of skin and nasal colonization were 55.0% (eczematous skin; 95% CI; 38.3-71.7), 23.3% (nonlesional skin; 95% CI; 12.6-33.9), and 56.3% (95% CI; 43.2-69.4), respectively. Methicillin-resistant strain was obtained from the nares and eczematous skin with rates of 11.6% (95% CI; 6.5-16.7) and 8.5% (95% CI; 4.3-12.8), respectively.
CONCLUSION
Children with atopic dermatitis are more prone to skin and nasal colonization by compared to nondiseased individuals.
PubMed: 38371569
DOI: 10.4103/ijd.ijd_453_22 -
North American Spine Society Journal Mar 2024Subjects with ankylosing spinal disorders, including diffuse idiopathic skeletal hyperostosis (DISH) and ankylosing spondylitis (AS) are more prone to vertebral... (Review)
Review
BACKGROUND
Subjects with ankylosing spinal disorders, including diffuse idiopathic skeletal hyperostosis (DISH) and ankylosing spondylitis (AS) are more prone to vertebral fractures and frequently present with neurological deficit compared to the patients without an ankylosed spine. Moreover, prevalent vertebral fractures are an important predictor for subsequent fracture risk. However, the pooled fracture prevalence for DISH is unknown and less recent for AS. We aimed to systematically investigate the prevalence and risk of vertebral fractures in DISH and AS populations.
METHODS
Publications in Medline and EMBASE were searched from January 1980 until July 2023 for cohort studies reporting vertebral fractures in AS and DISH. Data on prevalence were pooled with random effects modeling after double arcsine transformation. Heterogeneity was assessed with I statistics and we performed subgroup analysis and meta-regression to explore sources of heterogeneity.
RESULTS
We included 7 studies on DISH (n = 1,193, total fractures = 231) with a pooled vertebral fracture prevalence of 22.6% (95%CI: 13.4%-33.4%). For AS, 26 studies were included (n = 2,875, total fractures = 460) with a pooled vertebral fracture prevalence of 15.2% (95%CI: 11.6%-19.1%). In general, fracture prevalence for AS remained similar for several study-level and clinically relevant characteristics, including study design, diagnostic criteria, spine level, and patient characteristics in subgroup analysis. AS publications from 2010 to 2020 showed higher fracture prevalence compared to 1990 to 2010 (18.6% vs. 11.6%). Fractures in DISH were most common at the thoracolumbar junction, whereas for AS, the most common location was the mid-thoracic spine.
CONCLUSIONS
Vertebral fractures are prevalent in AS and DISH populations. Differences in fracture distribution along the spinal axis exist between the 2 disorders. Additional longitudinal studies are needed for incident fracture assessment in patients with ankylosing spinal disorders.
PubMed: 38370336
DOI: 10.1016/j.xnsj.2024.100312 -
Cureus Jan 2024Post-dural puncture headache (PDPH) is occasionally an inevitable side effect of neuraxial anesthesia, which can happen after spinal anesthesia or if an accidental dural... (Review)
Review
Post-dural puncture headache (PDPH) is occasionally an inevitable side effect of neuraxial anesthesia, which can happen after spinal anesthesia or if an accidental dural puncture (ADP) happens during epidural anesthesia. The treatment and prevention options for PDPH differ widely from one institution to another. The management of PDPH is heterogeneous in many institutions because of the absence of clear guidelines and protocols for the management of PDPH. This study aimed to summarize all articles published during the past decade that discussed the treatment or prevention of PDPH. From 2013 to 2023, 345 publications were filtered for all treatment and prevention approaches used for PDPH patients. The Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) 2020 guidelines were followed for conducting this systematic review, and 38 articles were included for analysis and review. Existing data come from small randomized clinical trials and retrospective or prospective cohort studies. This review supports the effect of oral pregabalin and intravenous aminophylline in both treatment and prevention. Intravenous mannitol, intravenous hydrocortisone, triple prophylactic regimen, and neostigmine plus atropine combination showed effective and beneficial outcomes. On the other hand, neither neuraxial morphine nor epidural dexamethasone showed promising results. Consequently, the use of neuraxial morphine or epidural dexamethasone for the prevention of PDPH remains questionable. Regarding the posture of the patient and its consequences on the incidence of the headache, lateral decubitus is better than a sitting position, and a prone position is better than a supine position. Smaller non-cutting needles play a role in avoiding PDPH. Minimally invasive nerve blocks, including sphenopalatine ganglion or greater occipital nerves, are satisfyingly effective. Epidural blood patches remain the more invasive but the gold standard and ultimate solution in patients resisting medical therapy. This study highlights the need for larger research to define the best approach to prevent and treat PDPH.
PubMed: 38361721
DOI: 10.7759/cureus.52330 -
Environmental Toxicology and Chemistry Apr 2024Microplastics (MPs) have attracted global concern because of their harmful effects on marine biota; their toxic properties can negatively impact aquatic ecosystems. Fish... (Review)
Review
Microplastics (MPs) have attracted global concern because of their harmful effects on marine biota; their toxic properties can negatively impact aquatic ecosystems. Fish is an essential source of protein for humans, playing a crucial role in daily food intake. Until recently, MPs were addressed primarily as environmental pollutants, but they are now increasingly recognized as contaminants in the food supply. The present review has comprehended the current knowledge of MP contamination in freshwater and marine fishes of Asia, including 112 peer-reviewed sources from 2016 to 2023. The review recorded 422 Asian fishes (345 marine and 77 freshwater) to be contaminated with MPs. Clarias gariepinus and Selaroides leptolepi have shown maximum MP contamination in the freshwater and marine environments of Asia, respectively. Omnivorous and carnivorous fishes exhibited higher susceptibility to ingesting MPs. Benthopelagic, demersal, and reef-associated habitats were identified as more prone to MP accumulation. In both freshwater and marine environments, China has the highest number of contaminated species among all the countries. Pollution indices indicated high MP contamination in both freshwater and marine environments. A prevalence of fibers was recorded in all fishes. Black- and blue-colored MPs of <500 µm-1 mm size were found dominantly. Polyethylene terephthalate and polyethylene were recorded as the prevalent plastic polymers in freshwater and marine fish, respectively. Overall, the review served as a comprehensive understanding of MP concentrations and variations between species, between feeding habits, and between geographic locations, which can be pivotal for addressing pressing environmental challenges, protecting human health, and fostering global sustainability efforts in the face of escalating plastic pollution. Environ Toxicol Chem 2024;43:671-685. © 2024 SETAC.
Topics: Animals; Humans; Microplastics; Plastics; Ecosystem; Environmental Monitoring; Asia; Fishes; Water Pollutants, Chemical
PubMed: 38353354
DOI: 10.1002/etc.5821 -
Fluids and Barriers of the CNS Feb 2024The cerebrospinal fluid (CSF) proteome could offer important insights into central nervous system (CNS) malignancies. To advance proteomic research in pediatric CNS... (Meta-Analysis)
Meta-Analysis Review
Mass spectrometry-based proteomics of cerebrospinal fluid in pediatric central nervous system malignancies: a systematic review with meta-analysis of individual patient data.
BACKGROUND
The cerebrospinal fluid (CSF) proteome could offer important insights into central nervous system (CNS) malignancies. To advance proteomic research in pediatric CNS cancer, the current study aims to (1) evaluate past mass spectrometry-based workflows and (2) synthesize previous CSF proteomic data, focusing on both qualitative summaries and quantitative re-analysis. MAIN: In our analysis of 11 studies investigating the CSF proteome in pediatric patients with acute lymphoblastic leukemia (ALL) or primary brain tumors, we observed significant methodological variability. This variability negatively affects comparative analysis of the included studies, as per GRADE criteria for quality of evidence. The qualitative summaries covered 161 patients and 134 non-tumor controls, while the application of validation cohort varied among the studies. The quantitative re-analysis comprised 15 B-ALL vs 6 "healthy" controls and 15 medulloblastoma patients vs 22 non-tumor controls. Certain CSF proteins were identified as potential indicators of specific malignancies or stages of neurotoxicity during chemotherapy, yet definitive conclusions were impeded by inconsistent data. There were no proteins with statistically significant differences when comparing cases versus controls that were corroborated across studies where quantitative reanalysis was feasible. From a gene ontology enrichment, we observed that age disparities between unmatched case and controls may mislead to protein correlations more indicative of age-related CNS developmental stages rather than neuro-oncological disease. Despite efforts to batch correct (HarmonizR) and impute missing values, merging of dataset proved unfeasible and thereby limited meaningful data integration across different studies.
CONCLUSION
Infrequent publications on rare pediatric cancer entities, which often involve small sample sizes, are inherently prone to result in heterogeneous studies-particularly when conducted within a rapidly evolving field like proteomics. As a result, obtaining clear evidence, such as CSF proteome biomarkers for CNS dissemination or early-stage neurotoxicity, is currently impractical. Our general recommendations comprise the need for standardized methodologies, collaborative efforts, and improved data sharing in pediatric CNS malignancy research. We specifically emphasize the possible importance of considering natural age-related variations in CSF due to different CNS development stages when matching cases and controls in future studies.
Topics: Child; Humans; Proteome; Proteomics; Central Nervous System Neoplasms; Mass Spectrometry; Biomarkers; Cerebrospinal Fluid
PubMed: 38350915
DOI: 10.1186/s12987-024-00515-x -
Journal of Psychiatric and Mental... Feb 2024WHAT IS KNOWN ON THE SUBJECT?: It was previously reported that perceived external locus of control may exacerbate depressive symptoms, is associated with anxiety, boosts... (Review)
Review
UNLABELLED
WHAT IS KNOWN ON THE SUBJECT?: It was previously reported that perceived external locus of control may exacerbate depressive symptoms, is associated with anxiety, boosts stress and general mental distress and weakens resilience against traumatic situations or difficulties. WHAT THE PAPER ADDS TO EXISTING KNOWLEDGE?: Those with a higher external locus of control are more prone to develop PTSD symptoms since the perceived external locus of control is among the predictors of PTSD. An internal locus of control is considered important in preventing PTSD, although an external locus of control appears to be a variable that causes/increases the prevalence of PTSD. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: It is known that nurses are deployed in clinical and fieldwork during disaster and assume key roles both interventional practices and psychosocial education. Thus, it is of particular importance for mental health nurses to be aware of the locus of control in themselves, their colleagues, and the community before, during and after disasters to be able to combat the risk/presence of PTSD.
ABSTRACT
AIM: The present systematic review explored the impacts of perceived locus of control on PTSD among individuals experiencing disasters.
METHOD
This is a systematic review study carried out through a search of the relevant research published in English over the period December 2021 to April 2022. Accordingly, we sought the studies to review on the Web of Science, PubMed, Scopus, Cochrane and Google Scholar databases using the keywords "Child, Children, Adolescent, Adolescence, Adult, Aged, Elderly, Post-Traumatic Stress Disorder, PTSD, Internal-External Control, Locus of Control, Disasters, Natural Disasters."
RESULTS
A total of 1.011 studies were found in the five databases using the keywords above. Following the exclusions, the remaining six studies were recruited for this systematic review. The six studies in question addressed earthquakes (2), hurricanes (1), wildfires (1), SARS (1) and fireworks explosions (1). In the study with wildfire survivors, there was a weak significant association between external locus of control and PTSD among those directly exposed to the disaster (r = .15, p < .01). The study with survivors of the SARS epidemic demonstrated that those with a high perceived chance (external) locus of control suffered PTSD (p = .001). An internal locus of control is considered important in preventing PTSD, although an external locus of control appears to be a variable that causes/increases the prevalence of PTSD.
CONCLUSION
It was concluded that perceived locus of control is related to PTSD in individuals experiencing a disaster. The additional evidence was that post-disaster PTSD among those with a high perceived external locus of control is stronger than those with a high perceived internal locus of control.
PubMed: 38340023
DOI: 10.1111/jpm.13030 -
Gynecologic Oncology May 2024To investigate the impact of lymph-vascular space invasion (LVSI) status on the prognosis of endometrial cancer (EC) according to a three-tiered scoring system for LVSI. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To investigate the impact of lymph-vascular space invasion (LVSI) status on the prognosis of endometrial cancer (EC) according to a three-tiered scoring system for LVSI.
METHODS
PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), International Clinical Trials Registry Platform (ICTRP), and Clinical Trials.gov were searched from inception to September 1st, 2023. The analysis was conducted using STATA 16.0.
RESULTS
A total of 9 studies with 4456 EC patients were included in the analysis. No LVSI was found in 72% of EC patients (95% CI 0.65-0.79), while focal and substantial LVSI were present in 16% (95% CI 0.11-0.21) and 13% (95% CI 0.08-018) of patients, respectively. Compared to the no LVSI group, the focal and substantial LVSI groups had poorer overall survival (for focal LVSI: HR 1.33, 95% CI 1.02-1.74; for substantial LVSI: HR 2.51, 95% CI 1.61-3.90), poorer disease-free survival (for substantial LVSI: HR 2.86, 95% CI 1.21-6.77), and an increased risk of recurrence, including pelvic recurrence (for focal LVSI: HR 2.05, 95% CI 1.03-4.07; for substantial LVSI: HR 6.06, 95% CI 3.31-11.08), distant recurrence (for focal LVSI: HR 2.04, 95% CI 1.42-2.92; for substantial LVSI: HR 3.36, 95% CI 2.35-4.793), and lymph node involvement (for focal LVSI: OR 3.52, 95% CI 1.339.34; for substantial LVSI: OR 5.42, 95% CI 2.78-10.58). Substantial LVSI was more prone to pelvic recurrence (HR 1.82, 95% CI 1.05-3.15) and distant recurrence (HR 2.21, 95% CI 1.48-3.28) than focal LVSI.
CONCLUSIONS
EC patients with focal and substantial LVSI had poorer survival, recurrence, and a higher incidence of lymph node metastasis than patients without LVSI. The substantial LVSI group was associated with even worse prognosis than the focal LVSI group. The three-tiered LVSI scoring system might effectively predict the prognosis of EC and guide clinical decision-making.
PROTOCOL REGISTRATION
CRD 42023451793.
Topics: Humans; Female; Endometrial Neoplasms; Neoplasm Invasiveness; Prognosis; Lymphatic Metastasis; Lymphatic Vessels; Lymph Nodes
PubMed: 38335803
DOI: 10.1016/j.ygyno.2024.01.046