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Frontiers in Genetics 2022Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease,...
Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis of rare dyslipidaemias are urgently required. Genomic DNA was isolated from blood samples of a Pakistani paediatric patient with hypertriglyceridemia, and from his parents and siblings. Next-generation sequencing (NGS) was performed, and an expanded dyslipidaemia panel was employed for genetic analysis. The NGS revealed the presence of a homozygous missense pathogenic variant c.230G>A (NM_178172.6) in exon 3 of the (glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) gene resulting in amino acid change p.Cys77Tyr (NP_835466.2). The patient was 5.5 years old at the time of genetic diagnosis. The maximal total cholesterol and triglyceride levels were measured at the age of 10 months (850.7 mg/dl, 22.0 mmol/L and 5,137 mg/dl, 58.0 mmol/L, respectively). The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly. Both parents and sister were heterozygous for the familial variant in the gene. Moreover, in the systematic review, we present 62 patients with pathogenic variants in the gene and clinical findings, associated with hyperlipoproteinemia. In a child with severe hypertriglyceridemia, we identified a pathogenic variant in the gene causing hyperlipoproteinemia (type 1D). In cases of severe elevations of plasma cholesterol and/or triglycerides genetic testing for rare dyslipidaemias should be performed as soon as possible for optimal therapy and patient management.
PubMed: 36051701
DOI: 10.3389/fgene.2022.983283 -
Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis.Neurological Sciences : Official... Sep 2022Identifying late epileptic seizures (LS) following cerebral venous thrombosis (CVT) can be useful for prognosis and management. We systematically reviewed the literature... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Identifying late epileptic seizures (LS) following cerebral venous thrombosis (CVT) can be useful for prognosis and management. We systematically reviewed the literature to identify risk factors for LS due to CVT.
METHODS
We systematically searched PubMed, Scholar, and Scopus databases (May 2021) to identify studies reporting data on prevalence and risk factors for CVT-LS. The methodological quality was assessed with the Ottawa-Newcastle Scale. The risk of developing CVT-LS was summarized in meta-analyses and expressed as odds ratio (OR) and corresponding 95% confidence intervals (CIs) using random-effects models.
RESULTS
Out of the 332 records retrieved, four studies were eventually included with a total of 1309 patients with CVT and 142 (11%) with CVT-LS. The most relevant predictors of CVT-LS were symptomatic seizures (OR 5.66, 95% CI 3.83-8.35), stupor/coma (OR 6.81, 95% CI 1.18-39.20), focal neurologic signs (OR 6.81, 95% CI 1.18-39.2), hemorrhagic component (OR 3.52, 95% CI 2.45-5.06), and superior sagittal sinus involvement (OR 1.52, 95% CI 1.04-2.21).
CONCLUSION
There are several risk factors for CVT-LS that should be considered in clinical practice. Further high-quality studies are warranted to develop predictive models for individualized risk stratification and prediction of CVT-LS.
Topics: Epilepsy; Humans; Intracranial Thrombosis; Risk Factors; Seizures; Venous Thrombosis
PubMed: 35639217
DOI: 10.1007/s10072-022-06148-y -
Medical Journal of the Islamic Republic... 2021Diarrhea-associated-hemolytic-uremic-syndrome (D+HUS) is a common from of HUS. Central-nervous-system (CNS) involvement is one of the most common extrarenal organ...
Diarrhea-associated-hemolytic-uremic-syndrome (D+HUS) is a common from of HUS. Central-nervous-system (CNS) involvement is one of the most common extrarenal organ involvements in children with D+HUS. This systematic review and meta-analysis aim to recognize the frequency of neurological complications in pts with HUS. Databases of PubMed, Embase, and Web of Science were searched systematically to find the papers on neurological involvement in HUS pts. Two researchers independently assessed the papers' quality and extracted data. CMA v. 2.2.064. was used for data analysis. Heterogeneity was evaluated using the I-squared (I2) test, and a fixed/random-effects model was used when appropriate. In this review, 21 studies including 2,189 participants with a median age between 1.3-40-year-old, entered the meta-analysis. The meta-analysis in D+HUS patients indicated 27.0% with neurological complications (95% CI, 22.0%-32.6%), 25.5% of symptoms weren't categorized (95% CI, 15.9%-38.3%), 20.8% of them developed the seizures (95% CI, 2.3%-74.4%). In D-HUS pts, 20.8% of them were presented neurological symptoms (95% CI, 17.9%-24.0%), of which 29.0% weren't categorized (95% CI, 19.2%-41.2%), 17.5% of pts got into coma (95% CI, 9.6%-29.7%), 5.6 % showed hemiparesis (95% CI, 2.8%-10.9%), 17.2% experienced lethargy (95% CI, 5.2%-44.1%), 30.5% developed the seizures (95% CI, 18.2%-46.2%), 7.4% manifested speech abnormalities (95% CI, 0.2%-7.22%), 6.4% of D-HUS pts presented visual-disturbances (95% CI, 3.4%-11.6%). This systematic review and meta-analysis indicated more than one-fourth of both D+HUS and D-HUS patients were presented with neurological symptoms, and the most prevalent symptoms were seizures, which can lead to an epilepsy sequel.
PubMed: 34956937
DOI: 10.47176/mjiri.35.91 -
Turkish Neurosurgery 2022To systematically evaluate the medication safety and effectiveness of Oxcarbazepine (OXC) and carbamazepine (CBZ) for the treatment of post-stroke epilepsy (PSE). (Meta-Analysis)
Meta-Analysis
AIM
To systematically evaluate the medication safety and effectiveness of Oxcarbazepine (OXC) and carbamazepine (CBZ) for the treatment of post-stroke epilepsy (PSE).
MATERIAL AND METHODS
We searched Medline and other databases to identify the randomized controlled trials (RCTs) that compare the efficacies of OXC and CBZ in treating PSE. Two authors extracted and analyzed the data independently with Revman 5.3 software. The Q-test and I2 were used to test the statistical heterogeneity. The fixed or random effect models were selected according to heterogeneity.
RESULTS
Eight RCTs that include 671 patients were involved in this study. The meta-analyses result showed that the overall efficiency of OXC was significantly better than that of CBZ (OR=4.55, 95% confidence interval (CI) (3.04?6.81)), the overall adverse events (OR=0.27, 95% CI (0.18?0.42), and the incidence of vomiting (OR=0.28, 95% CI (0.09?0.85)) of OXC was significantly less than that of CBZ. No significant differences in the incidence of rash (OR=0.45, 95% CI (0.19?1.07)), lethargy (OR=0.49, 95% CI (0.16?1.45)), and dizziness (OR=0.51, 95% CI (0.20?1.35)) were detected between OXC and CBZ.
CONCLUSION
OXC seems to be superior to CBZ in the treatment of PSE, with higher efficacy, and safety than the latter. However, more research on OXC and CBZ in the treatment of PSE is required in the later stage due to the sample size limitation of our study.
Topics: Anticonvulsants; Carbamazepine; Epilepsy; Humans; Oxcarbazepine
PubMed: 34936076
DOI: 10.5137/1019-5149.JTN.34664-21.3 -
Stroke Feb 2022Women have worse outcomes than men after stroke. Differences in presentation may lead to misdiagnosis and, in part, explain these disparities. We investigated whether... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND PURPOSE
Women have worse outcomes than men after stroke. Differences in presentation may lead to misdiagnosis and, in part, explain these disparities. We investigated whether there are sex differences in clinical presentation of acute stroke or transient ischemic attack.
METHODS
We conducted a systematic review and meta-analysis according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Inclusion criteria were (1) cohort, cross-sectional, case-control, or randomized controlled trial design; (2) admission for (suspicion of) ischemic or hemorrhagic stroke or transient ischemic attack; and (3) comparisons possible between sexes in ≥1 nonfocal or focal acute stroke symptom(s). A random-effects model was used for our analyses. We performed sensitivity and subanalyses to help explain heterogeneity and used the Newcastle-Ottawa Scale to assess bias.
RESULTS
We included 60 studies (n=582 844; 50% women). In women, headache (pooled odds ratio [OR], 1.24 [95% CI, 1.11-1.39]; I=75.2%; 30 studies) occurred more frequently than in men with any type of stroke, as well as changes in consciousness/mental status (OR, 1.38 [95% CI, 1.19-1.61]; I=95.0%; 17 studies) and coma/stupor (OR, 1.39 [95% CI, 1.25-1.55]; I=27.0%; 13 studies). Aspecific or other neurological symptoms (nonrotatory dizziness and non-neurological symptoms) occurred less frequently in women (OR, 0.96 [95% CI, 0.94-0.97]; I=0.1%; 5 studies). Overall, the presence of focal symptoms was not associated with sex (pooled OR, 1.03) although dysarthria (OR, 1.14 [95% CI, 1.04-1.24]; I=48.6%; 11 studies) and vertigo (OR, 1.23 [95% CI, 1.13-1.34]; I=44.0%; 8 studies) occurred more frequently, whereas symptoms of paresis/hemiparesis (OR, 0.73 [95% CI, 0.54-0.97]; I=72.6%; 7 studies) and focal visual disturbances (OR, 0.83 [95% CI, 0.70-0.99]; I=62.8%; 16 studies) occurred less frequently in women compared with men with any type of stroke. Most studies contained possible sources of bias.
CONCLUSIONS
There may be substantive differences in nonfocal and focal stroke symptoms between men and women presenting with acute stroke or transient ischemic attack, but sufficiently high-quality studies are lacking. More studies are needed to address this because sex differences in presentation may lead to misdiagnosis and undertreatment.
Topics: Cohort Studies; Cross-Sectional Studies; Diagnostic Errors; Female; Humans; Intracranial Hemorrhages; Ischemic Attack, Transient; Male; Sex Characteristics; Stroke; Treatment Outcome
PubMed: 34903037
DOI: 10.1161/STROKEAHA.120.034040 -
BMJ Open Dec 2021Excessive water intake is rarely associated with life-threatening hyponatraemia. The aim of this study was to determine the clinical characteristics and outcomes of...
INTRODUCTION
Excessive water intake is rarely associated with life-threatening hyponatraemia. The aim of this study was to determine the clinical characteristics and outcomes of hyponatraemia associated with excess water intake.
METHODS
This review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. All studies (case reports, observational or interventional studies) reporting excess water intake and hyponatraemia in adults (1946-2019) were included.
RESULTS
A total of 2970 articles were identified and 177 were included (88.7% case reports), consisting of 590 patients. The mean age was 46±16 years (95% CI 44 to 48 years), 47% female, 52% had a chronic psychiatric disorder and 31% had no underlying condition. The median volume of water consumed and serum sodium at presentation was 8 L/day (95% CI 8.9 to 12.2 L/day) and 118 mmol/L (95% CI 116 to 118 mmol/L), respectively. The motivator for increased water consumption was psychogenic polydipsia (55%); iatrogenic (13%); exercise (12%); habitual/dipsogenic polydipsia (7%) and other reasons (13%). The clinical features on presentation were severe in 53% (seizures, coma); moderate in 35% (confusion, vomiting, agitation) and mild in 5% (dizziness, lethargy, cognitive deficit) and not reported in 5% of studies. Treatment was supportive in 41% of studies (fluid restriction, treatment of the underlying cause, emergency care), and isotonic and hypertonic saline was used in 18% and 28% of cases, respectively. Treatment-related complications included osmotic demyelination (3%) and rhabdomyolysis (7%), and death occurred in 13% of cases.
CONCLUSION
Water intoxication is associated with significant morbidity and mortality and requires daily intake to substantially exceed population-based recommendations. The limitations of this analysis are the low quality and high risk of bias of the included studies.
PROSPERO REGISTRATION NUMBER
A pre-existing protocol in the international prospective register of systematic reviews was updated to incorporate any new amendments and reregistered at http://www.crd.york.ac.uk/PROSPERO (registration no. CRD42019129809).
Topics: Adult; Chronic Disease; Drinking; Female; Humans; Hyponatremia; Male; Middle Aged; Saline Solution, Hypertonic; Water
PubMed: 34887267
DOI: 10.1136/bmjopen-2020-046539 -
Frontiers in Pediatrics 2021This study aimed to identify potential risk factors for severe hand-foot-mouth disease (HFMD). The PubMed, Embase, the Cochrane Library, Sinomed, WanFang, CNKI, and...
This study aimed to identify potential risk factors for severe hand-foot-mouth disease (HFMD). The PubMed, Embase, the Cochrane Library, Sinomed, WanFang, CNKI, and VIP databases were searched (up to August 2021). Twenty-nine studies (9,241 and 927,355 patients with severe HFMD and controls, respectively; all from China) were included. EV71 was associated with higher odds of severe HFMD compared with other agents (OR = 4.44, 95%CI: 3.12-6.33, < 0.001). Being home-raised (OR = 1.99, 95%CI: 1.59-2.50, < 0.001), higher number of children in the family (OR = 2.09, 95%CI: 1.93-2.27, < 0.001), poor hand hygiene (OR = 2.74, 95%CI: 1.78-4.23, < 0.001), and no breastfeeding (OR = 2.01, 95%CI: 1.45-2.79, < 0.001) were risk factors for severe HFMD. First consulting to a district-level or above hospital (OR = 0.34, 95%CI: 0.25-0.45, < 0.001) and diagnosis of HFMD at baseline (OR = 0.17, 95%CI: 0.13-0.24, < 0.001) were protective factors against severe HFMD. Fever, long fever duration, vomiting, lethargy, leukocytosis, tic, and convulsions were each associated with severe HFMD (all < 0.05), while rash was not. EV71, lifestyle habits, frequent hospital visits, and symptoms are risk factors for severe HFMD in children in China, while early diagnosis and admission to higher-level hospitals are protective factors.
PubMed: 34858899
DOI: 10.3389/fped.2021.716039 -
Scientific Reports Nov 2021Different studies have suggested that fluoride is related to neurological disorders in children and adolescents, but clinical evidences of which neurological parameters... (Meta-Analysis)
Meta-Analysis
Different studies have suggested that fluoride is related to neurological disorders in children and adolescents, but clinical evidences of which neurological parameters associated to fluoride exposure are, in fact, still controversial. In this way, this systematic review and meta-analysis aimed to show if there is an association between fluoride exposure from different sources, doses and neurological disorders. Terms related to "Humans"; "Central nervous system"; "Fluorides"; and "Neurologic manifestations" were searched in a systematic way on PubMed, Scopus, Web of Science, Lilacs, Cochrane and Google Scholar. All studies performed on humans exposed to fluoride were included on the final assessment. A meta-analysis was then performed and the quality level of evidence was performed using the GRADE approach. Our search retrieved 4,024 studies, among which 27 fulfilled the eligibility criteria. The main source of fluoride was naturally fluoridated water. Twenty-six studies showed alterations related to Intelligence Quotient (IQ) while only one has evaluated headache, insomnia, lethargy, polydipsia and polyuria. Ten studies were included on the meta-analysis, which showed IQ impairment only for individuals under high fluoride exposure considering the World Health Organization criteria, without evidences of association between low levels and any neurological disorder. However, the high heterogeneity observed compromise the final conclusions obtained by the quantitative analyses regarding such high levels. Furthermore, this association was classified as very low-level evidence. At this time, the current evidence does not allow us to state that fluoride is associated with neurological damage, indicating the need for new epidemiological studies that could provide further evidences regarding this possible association.
Topics: Adolescent; Child; Environment; Environmental Exposure; Fluoridation; Fluorides; Fluorine Compounds; Humans; Intelligence Tests; Nervous System Diseases
PubMed: 34811523
DOI: 10.1038/s41598-021-99688-w -
Medicine Nov 2021It is necessary to conduct a meta-analysis of the clinical randomized controlled trials (RCTs) on ropinirole in the treatment of Parkinson disease (PD), to explore the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
It is necessary to conduct a meta-analysis of the clinical randomized controlled trials (RCTs) on ropinirole in the treatment of Parkinson disease (PD), to explore the effects and safety of ropinirole, and to provide a theoretical basis for clinically safe and rational drug use.
METHODS
RCTs on the effectiveness and safety of ropinirole in the treatment of PD were searched. We searched Dutch medical literature database, Pubmed, Cochrane Library, China National Knowledge Infrastructure, Wanfang Knowledge Service Platform up to December 15, 2020. The Cochrane risk bias assessment tool was used to evaluate the quality of the included literature, and the RevMan5.3 software was used for meta-analysis.
RESULTS
A total of 12 RCTs with 3341 patients were included. The changes of Parkinson Disease Rating Scale Part II score (mean difference = -2.23, 95% confidence interval [CI] -2.82 to -1.64) and Parkinson Disease Rating Scale Part III scores (mean difference = -4.93, 95%CI -5.25 to -4.61) in the ropinirole group was significantly lower than that in the control group. The incidence of dizziness (odd risk [OR] = 1.85, 95%CI 1.50-2.28), nausea (OR = 2.17, 95%CI 1.81-2.59), vomiting (OR = 2.73, 95%CI 1.47-5.09), and lethargy (OR = 2.19, 95%CI 1.39-3.44) in the ropinirole group was significantly higher than that in the control group (all P < .05), and there were no significant differences in the incidence of headache (OR = 1.14, 95%CI 0.79-1.65) and insomnia (OR = 1.06, 95%CI 0.72-1.55) were found between 2 groups (all P > .05).
CONCLUSIONS
Ropinirole can help improve the ability of daily living and exercise function of PD patients, but it will increase the incidence of related adverse reactions, which needs to be further confirmed by subsequent large-scale, high-quality RCTs.
Topics: Antiparkinson Agents; Headache; Humans; Indoles; Nausea; Parkinson Disease; Randomized Controlled Trials as Topic; Sleep Initiation and Maintenance Disorders
PubMed: 34797288
DOI: 10.1097/MD.0000000000027653 -
Infectious Diseases of Poverty Oct 2021Severe dengue is a life-threatening complication; rapid identification of these cases, followed by adequate management is crucial to improve the clinical prognosis.... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Severe dengue is a life-threatening complication; rapid identification of these cases, followed by adequate management is crucial to improve the clinical prognosis. Therefore, this study aimed to identify risk factors and predictors of severe dengue.
METHODS
A literature search for studies reporting risk factors of severe dengue among individuals with dengue virus infection was conducted in PubMed, Scopus and Web of Science database from inception to December 31, 2020. Pooled odds ratios (ORs) for patients' demographic characteristics, co-morbidities, and warning signs were estimated using an inverse variance heterogeneity model.
RESULTS
We included 143 articles in the meta-analysis from a total of 13 090 articles retrieved from the literature search. The risk factors of severe dengue were: being a child [OR = 1.96; 95% confidence interval (CI): 1.22-3.13], secondary infection (OR = 3.23; 95% CI: 2.28-4.57), and patients with pre-existing diabetes (OR = 2.88; 95% CI: 1.72-4.81) and renal disease (OR = 4.54; 95% CI: 1.55-13.31). Warning signs strongly associated with severe disease were increased haematocrit with a concurrent decrease in platelet count (OR = 5.13; 95% CI: 1.61-16.34), abdominal pain (OR = 2.00; 95% CI: 1.49-2.68), lethargy (OR = 2.73; 95% CI: 1.05-7.10), vomiting (OR = 1.80; 95% CI: 1.43-2.26), hepatomegaly (OR = 5.92; 95% CI: 3.29-10.66), ascites (OR = 6.30; 95% CI: 3.75-10.60), pleural effusion (OR = 5.72; 95% CI: 3.24-10.10) and melena (OR = 4.05; 95% CI: 1.64-10.00).
CONCLUSIONS
Our meta-analysis identified children, secondary infection, diabetes and renal disease(s) as important predictors of severe dengue. Our finding also supports the predictive ability of the WHO warning signs to identify severe dengue. These findings are useful for clinicians to identify severe dengue for management and timely interventions.
Topics: Humans; Risk Factors; Severe Dengue
PubMed: 34627388
DOI: 10.1186/s40249-021-00908-2