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Seizure Mar 2024Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region... (Review)
Review
Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region- WHSCR) on chromosome 4p16.3. WHS is clinically characterized by pre-and postnatal growth restriction, hypotonia, intellectual disability, craniofacial dysmorphismand congenital fusion anomalies. The clinical aspects are variable due to the deletion size.Consistently, epilepsy is one of the major concerns for parents and professionals caring for children with WHS. Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6-12 months of age. Approximately 20% of patients had the first seizure onset within the first 6 months of age, almost 50% at 6 to 12 months of age and about 25% later than 12 months of age. The main types of epileptic seizures occurring in patients with WHS were generalized tonic-clonic seizures (around 70%). These were followed by tonic spasms (20%); focal seizures with impaired awareness (12%) and clonicseizures in 7% of patients.Seizures are often triggered by fever, followed by infections of various systems. Particularly, half of WHS patients experience status epilepticus in the first years of life, which can be fatal. Due to limited number of reports on the topic of EEG abnormalities in epilepsy among WHS patients, it is difficult to determine whether there are any characteristic deviations for WHS. Although more than 300 persons with WHS have been reported in the literature, there is sparse knowledge about epilepsy and methods of its anti-seizure medication (ASM) management with an assessment of their effectiveness. The purpose of this systematic review is to briefly summarize achievements and advances in the field of epilepsy in Wolf-Hirschhorn syndrome.
Topics: Child; Humans; Infant; Wolf-Hirschhorn Syndrome; Epilepsy; Intellectual Disability; Status Epilepticus; Craniofacial Abnormalities; Chromosome Deletion; Phenotype
PubMed: 36526544
DOI: 10.1016/j.seizure.2022.12.001 -
European Heart Journal. Cardiovascular... Jul 2023Multiple guidelines and consensus papers have addressed the role of antithrombotic strategies in patients with established coronary artery disease (CAD). Since evidence...
Multiple guidelines and consensus papers have addressed the role of antithrombotic strategies in patients with established coronary artery disease (CAD). Since evidence and terminology continue to evolve, the authors undertook a consensus initiative to guide clinicians to select the optimal antithrombotic regimen for each patient. The aim of this document is to provide an update for clinicians on best antithrombotic strategies in patients with established CAD, classifying each treatment option in relation to the number of antithrombotic drugs irrespective of whether the traditional mechanism of action is expected to mainly inhibit platelets or coagulation cascade. With the aim to reach comprehensiveness of available evidence, we systematically reviewed and performed meta-analyses by means of both direct and indirect comparisons to inform the present consensus document.
Topics: Humans; Coronary Artery Disease; Fibrinolytic Agents; Blood Coagulation
PubMed: 37120728
DOI: 10.1093/ehjcvp/pvad032 -
Journal of Clinical Medicine Oct 2023Polycystic ovary syndrome (PCOS) is an endocrine disorder with a broad spectrum of clinical symptoms. Some of the serious complications of PCOS are mental disorders... (Review)
Review
Polycystic ovary syndrome (PCOS) is an endocrine disorder with a broad spectrum of clinical symptoms. Some of the serious complications of PCOS are mental disorders including depression. Therefore, the aim of the meta-analysis was to determine the prevalence, mean level, standardized mean difference and probability of depression based on the research conducted with the Hospital Anxiety and Depression Scale (HADS). A systematic literature search was performed using the following databases: PubMed, EMBASE, Scopus, ClinicalTrials.gov and Google for research published until January 2023. The meta-analysis was conducted on a group of 4002 patients obtained from 19 studies, which met the inclusion criteria (adult pre-menopausal women diagnosed with PCOS, papers on the prevalence of depression or the HADS scoring). According to the research performed, the mean prevalence of depression was 31% (I2 = 93%; < 0.001), whereas the mean HADS depression score in patients with PCOS was 6.31 (I2 = 93%; < 0.001). The standardized difference of mean depression scores was SMD = 0.421 (95% confidence interval = 0.17-0.68, I2 = 67%). The overall probability of depression in PCOS patients was more than 2.5-fold higher than in healthy women ((RR: 2.58), confidence interval [1.38-4.85]; I2 = 90%, < 0.001). The research results imply an increased risk of depressive symptoms in women with PCOS.
PubMed: 37892583
DOI: 10.3390/jcm12206446 -
International Journal of Gynaecology... Jul 2024Polycystic ovary syndrome (PCOS) is an endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. Its etiology is uncertain... (Review)
Review
BACKGROUND
Polycystic ovary syndrome (PCOS) is an endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. Its etiology is uncertain and one of the hypotheses is that environmental factors, such as the bisphenol A (BPA) endocrine disruptor, may be involved.
OBJECTIVE
To investigate the association between exposure to BPA and PCOS.
SEARCH STRATEGY
Research was conducted focusing on studies published in English, Portuguese, and Spanish from January 2001 to March 2023 and available in Embase, Medline/PubMed, Rima, Lilacs, Scielo, Google academic, and SCI databases.
SELECTION CRITERIA
Studies in humans that evaluated the association between exposure to BPA and a diagnosis of PCOS.
DATA COLLECTION AND ANALYSIS
Following PRISMA guidelines, study characteristics and relevant data were extracted.
MAIN RESULTS
Selection of 15 case-control and 7 cross-sectional studies with a total of 1682 PCOS patients. The studies were carried out in China, Poland, Turkey, Japan, Greece, Italy, the USA, Iran, Iraq, Egypt, India, Czechia, and Slovakia. A positive relationship between exposure to BPA and PCOS was described in19 studies (1391 [82.70%] of the PCOS patients). The fluids used in the studies were serum, urine, plasma, and follicular fluid. BPA was measured by ELISA and by chromatography (HPLC, HPLC-MS/MS, GC-MS, and GC-MS/MS). Diagnosis of PCOS used Rotterdam criteria in 15, NIH 1999 in 3, AE&PCOS Society in 2, similar to the Rotterdam criteria in 1, and criteria not informed in 1. Androgens were measured in 16 studies; in 12, hyperandrogenism was positively associated with BPA. BPA level was related to body mass index (BMI) in studies. In 15 studies independently of BMI, women with PCOS had higher BPA levels. Carbohydrate metabolism disorders were evaluated in 12 studies and in 6 a positive correlation was found with BPA levels. Lipid profile was evaluated in seven studies and in only one the correlation between lipid profile and BPA levels was present.
CONCLUSIONS
Exposure to BPA is positively associated with PCOS, mainly with the hyperandrogenism.
Topics: Humans; Polycystic Ovary Syndrome; Female; Phenols; Benzhydryl Compounds; Endocrine Disruptors; Environmental Exposure
PubMed: 38197560
DOI: 10.1002/ijgo.15349 -
The Ocular Surface Jul 2023Environmental risk factors that have an impact on the ocular surface were reviewed and associations with age and sex, race/ethnicity, geographical area, seasonality,...
Environmental risk factors that have an impact on the ocular surface were reviewed and associations with age and sex, race/ethnicity, geographical area, seasonality, prevalence and possible interactions between risk factors are reviewed. Environmental factors can be (a) climate-related: temperature, humidity, wind speed, altitude, dew point, ultraviolet light, and allergen or (b) outdoor and indoor pollution: gases, particulate matter, and other sources of airborne pollutants. Temperature affects ocular surface homeostasis directly and indirectly, precipitating ocular surface diseases and/or symptoms, including trachoma. Humidity is negatively associated with dry eye disease. There is little data on wind speed and dewpoint. High altitude and ultraviolet light exposure are associated with pterygium, ocular surface degenerations and neoplastic disease. Pollution is associated with dry eye disease and conjunctivitis. Primary Sjögren syndrome is associated with exposure to chemical solvents. Living within a potential zone of active volcanic eruption is associated with eye irritation. Indoor pollution, "sick" building or house can also be associated with eye irritation. Most ocular surface conditions are multifactorial, and several environmental factors may contribute to specific diseases. A systematic review was conducted to answer the following research question: "What are the associations between outdoor environment pollution and signs or symptoms of dry eye disease in humans?" Dry eye disease is associated with air pollution (from NO) and soil pollution (from chromium), but not from air pollution from CO or PM. Future research should adequately account for confounders, follow up over time, and report results separately for ocular surface findings, including signs and symptoms.
Topics: Humans; Air Pollution; Particulate Matter; Dry Eye Syndromes; Conjunctiva; Life Style
PubMed: 37062427
DOI: 10.1016/j.jtos.2023.04.007 -
Journal of Medical Virology Jul 2023Diverse clinical and laboratory features of multisystem inflammatory syndrome (MIS-C) have been reported in the literature. Despite the worldwide distribution, systemic... (Meta-Analysis)
Meta-Analysis Review
Systematic review and meta-analysis on the serological, immunological, and cardiac parameters of the multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 infection.
Diverse clinical and laboratory features of multisystem inflammatory syndrome (MIS-C) have been reported in the literature. Despite the worldwide distribution, systemic studies regarding the laboratory results do not exist. Therefore, we aimed to perform this systematic review and meta-analysis to evaluate the serological, immunological, and cardiac parameters of the MIS-C associated with SARS-CoV-2 infection. We searched the PubMed, Scopus, and Web of Science databases using specific keywords for any papers published in English since the disease onset and the first report until July 19, 2020. The inclusion criteria were children <21 years diagnosed with MIS-C without any limitation on defining criteria. Forty-eight studies were included in the final analysis, with a total population size of 3543 children with MIS-C. The median age of the included patients was 8.3 (6.7-9) years. The pooled prevalence of male patients was 59% (95% CI: 56%-61%) and 62% (95% CI: 55%-69%) were admitted in ICU. The pooled prevalence of positive SARS-CoV-2 RT-PCR, SARS-CoV-2 IgM, and SARS-CoV-2 IgG antibody tests was 33% (95% CI: 27%-40%), 39% (95% CI: 22%-58%) and 81% (95% CI: 76%-86%), respectively. The positivity rate of the inflammatory markers was as follows: CRP (96%, 95% CI: 90%-100%), d-dimer (87%, 95% CI: 81%-93%), ESR (81%, 95% CI: 74%-87%), procalcitonin (88%, 95% CI: 76%-97%), ferritin (79%, 95% CI: 69%-87%), and fibrinogen (77%, 95% CI: 70%-84%). The pooled prevalence of elevated brain natriuretic peptide (BNP) level, pro-BNP, and troponin were found in 60% (95% CI: 44%-75%), 87% (95% CI: 75%-96%), and 55% (95% CI: 45%-64%), respectively. The majority of patients had positive SARS-CoV-2 IgG test. Nearly one-third of the cases showed negative RT-PCR results. Cardiac and inflammatory markers were elevated in the majority of cases. These findings suggest that hyperinflammation and cardiac dysfunction are common complications of MIS-C.
Topics: Child; Humans; Male; Female; COVID-19; SARS-CoV-2; Immunoglobulin G; Hospitalization; Antibodies, Viral
PubMed: 37436781
DOI: 10.1002/jmv.28927 -
Biomedicines Jul 2023Studies to date have yielded conflicting results on associations between components of metabolic syndrome (MetS) and bone mineral density (BMD), particularly in men.... (Review)
Review
Studies to date have yielded conflicting results on associations between components of metabolic syndrome (MetS) and bone mineral density (BMD), particularly in men. This current systematic review and meta-analysis addresses the existing gap in the literature and aims to evaluate bone mineral density (BMD) at the femoral neck (FN) and lumbar spine (LS) in men diagnosed with MetS. The two study authors independently searched PubMed, Cinahl, Embase, and Web of Science up to 8 February 2022 for studies in English. The inclusion criteria were (i) diagnosis of MetS according to the NCEP-ATP III 2001 criteria; (ii) adult male demographic; (iii) analyzable data on BMD in at least two sites using dual-energy X-ray absorptiometry (DXA), and (iv) original observational studies. Case reports and non-English articles were excluded. We analyzed the results of seven studies providing data on bone density in men with MetS. Results: Based on random effect weights, the mean BMD of the femoral neck and lumbar spine were 0.84 and 1.02, respectively. The mean lumbar spine T-score was -0.92. In meta-regression analysis, the variances in mean BMD in the lumbar spine and femoral neck could not be significantly explained by BMI (lumbar BMD: Q = 1.10, df = 1, = 0.29; femoral neck BMD: Q = 0.91, df = 1, = 0.34). Our meta-analysis suggests normal bone mass in adult males with MetS. Due to the high heterogeneity in the seven analyzed studies and the lack of control groups in these studies, further research is needed to fully elucidate the associations between MetS and its components and BMD in men.
PubMed: 37509553
DOI: 10.3390/biomedicines11071915 -
Alzheimer's Research & Therapy Apr 2024Measurement of beta-amyloid (Aβ) and phosphorylated tau (p-tau) levels offers the potential for early detection of neurocognitive impairment. Still, the probability of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Measurement of beta-amyloid (Aβ) and phosphorylated tau (p-tau) levels offers the potential for early detection of neurocognitive impairment. Still, the probability of developing a clinical syndrome in the presence of these protein changes (A+ and T+) remains unclear. By performing a systematic review and meta-analysis, we investigated the risk of mild cognitive impairment (MCI) or dementia in the non-demented population with A+ and A- alone and in combination with T+ and T- as confirmed by PET or cerebrospinal fluid examination.
METHODS
A systematic search of prospective and retrospective studies investigating the association of Aβ and p-tau with cognitive decline was performed in three databases (MEDLINE via PubMed, EMBASE, and CENTRAL) on January 9, 2024. The risk of bias was assessed using the Cochrane QUIPS tool. Odds ratios (OR) and Hazard Ratios (HR) were pooled using a random-effects model. The effect of neurodegeneration was not studied due to its non-specific nature.
RESULTS
A total of 18,162 records were found, and at the end of the selection process, data from 36 cohorts were pooled (n= 7,793). Compared to the unexposed group, the odds ratio (OR) for conversion to dementia in A+ MCI patients was 5.18 [95% CI 3.93; 6.81]. In A+ CU subjects, the OR for conversion to MCI or dementia was 5.79 [95% CI 2.88; 11.64]. Cerebrospinal fluid Aβ42 or Aβ42/40 analysis and amyloid PET imaging showed consistent results. The OR for conversion in A+T+ MCI subjects (11.60 [95% CI 7.96; 16.91]) was significantly higher than in A+T- subjects (2.73 [95% CI 1.65; 4.52]). The OR for A-T+ MCI subjects was non-significant (1.47 [95% CI 0.55; 3.92]). CU subjects with A+T+ status had a significantly higher OR for conversion (13.46 [95% CI 3.69; 49.11]) than A+T- subjects (2.04 [95% CI 0.70; 5.97]). Meta-regression showed that the ORs for Aβ exposure decreased with age in MCI. (beta = -0.04 [95% CI -0.03 to -0.083]).
CONCLUSIONS
Identifying Aβ-positive individuals, irrespective of the measurement technique employed (CSF or PET), enables the detection of the most at-risk population before disease onset, or at least at a mild stage. The inclusion of tau status in addition to Aβ, especially in A+T+ cases, further refines the risk assessment. Notably, the higher odds ratio associated with Aβ decreases with age.
TRIAL REGISTRATION
The study was registered in PROSPERO (ID: CRD42021288100).
Topics: Humans; Prospective Studies; Retrospective Studies; Amyloidogenic Proteins; Cognitive Dysfunction; Dementia
PubMed: 38610055
DOI: 10.1186/s13195-024-01455-2 -
Medical Science Monitor : International... Jul 2023BACKGROUND With the expanding understanding of conditions contributing to heightened cardiovascular risk, emerging pathologies like nonalcoholic fatty liver disease...
BACKGROUND With the expanding understanding of conditions contributing to heightened cardiovascular risk, emerging pathologies like nonalcoholic fatty liver disease (NAFLD) and polycystic ovary syndrome (PCOS) are being recognized as hepatic and ovarian manifestations of metabolic syndrome, respectively. This study aims to elucidate the recent advancements in our comprehension of the link between these conditions in the pediatric demographic, focusing on pathogenesis, incidence, diagnostic methods, and effective therapeutic strategies. MATERIAL AND METHODS A systematic review was conducted following the PRISMA 2020 guidelines, with a search of the PubMed database for eligible studies published in the ten years leading up to January 2023. RESULTS Out of 23 reports based on 16 original studies, we found a significantly higher prevalence of NAFLD in adolescents with PCOS compared to healthy controls. Factors such as increased de novo lipogenesis, alterations in gut microbiota, and a deficiency in growth differentiation factor-15 have been implicated in their pathogenesis. Additionally, novel biomarker S100A4, a clinical prediction score for hepatic steatosis in PCOS, and pharmacotherapy involving low-dose spironolactone, pioglitazone, and metformin have been proposed to enhance the management of these conditions. CONCLUSIONS A meticulous approach to the prevention, detection, and treatment of NAFLD in adolescents with PCOS is paramount to mitigate further complications. The study underlines the need for ongoing research to refine our understanding and management of these interconnected metabolic disorders.
Topics: Female; Adolescent; Humans; Child; Polycystic Ovary Syndrome; Non-alcoholic Fatty Liver Disease; Prevalence; Insulin Resistance
PubMed: 37455412
DOI: 10.12659/MSM.940398 -
International Journal of Molecular... Apr 2024This study examines the impact of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor 2 (IGF-2) on various aspects of children's health-from the realms... (Review)
Review
This study examines the impact of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor 2 (IGF-2) on various aspects of children's health-from the realms of growth and puberty to the nuanced characteristics of metabolic syndrome, diabetes, liver pathology, carcinogenic potential, and cardiovascular disorders. A comprehensive literature review was conducted using PubMed, with a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method employing specific keywords related to child health, obesity, and insulin-like growth factors. This study reveals associations between insulin-like growth factor 1 and birth weight, early growth, and adiposity. Moreover, insulin-like growth factors play a pivotal role in regulating bone development and height during childhood, with potential implications for puberty onset. This research uncovers insulin-like growth factor 1 and insulin-like growth factor 2 as potential biomarkers and therapeutic targets for metabolic dysfunction-associated liver disease and hepatocellular carcinoma, and it also highlights the association between insulin-like growth factors (IGFs) and cancer. Additionally, this research explores the impact of insulin-like growth factors on cardiovascular health, noting their role in cardiomyocyte hypertrophy. Insulin-like growth factors play vital roles in human physiology, influencing growth and development from fetal stages to adulthood. The impact of maternal obesity on children's IGF levels is complex, influencing growth and carrying potential metabolic consequences. Imbalances in IGF levels are linked to a range of health conditions (e.g., insulin resistance, glucose intolerance, metabolic syndrome, and diabetes), prompting researchers to seek novel therapies and preventive strategies, offering challenges and opportunities in healthcare.
Topics: Pregnancy; Child; Female; Humans; Insulin-Like Growth Factor I; Insulin-Like Growth Factor II; Metabolic Syndrome; Obesity; Insulin-Like Peptides; Diabetes Mellitus
PubMed: 38612776
DOI: 10.3390/ijms25073966