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Orphanet Journal of Rare Diseases Jan 2024Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges... (Review)
Review
INTRODUCTION
Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome.
METHODS
A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment.
RESULTS
Of the sixty-five articles included in this systematic review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died.
CONCLUSIONS
Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.
Topics: Adult; Female; Pregnancy; Humans; Amino Acid Metabolism, Inborn Errors; Hyperhomocysteinemia; Homocystinuria; Methylmalonic Acid; Vitamin B 12
PubMed: 38245797
DOI: 10.1186/s13023-024-03021-3 -
BMJ Open Respiratory Research Apr 2024People living with HIV (PLHIV) have a higher risk of developing pulmonary hypertension (PH) with subsequent poorer prognosis. This review aimed to determine the (1)... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
People living with HIV (PLHIV) have a higher risk of developing pulmonary hypertension (PH) with subsequent poorer prognosis. This review aimed to determine the (1) survival outcomes and (2) proportion of emergency department (ED) visits and hospitalisations of PLHIV and PH.
METHODS
We conducted a systematic review and meta-analysis of observational studies reporting survival outcomes for PLHIV and PH. Electronic databases (Medline, EMBASE, PubMed, Web of Science, Global Index Medicus and Cochrane Library), trial registries and conference proceedings were searched until 22 July 2023. We pooled similar measures of effect, assessed apriori subgroups and used meta-regression to determine mortality and associated variables.
RESULTS
5248 studies were identified; 28 studies were included with a total of 5459 PLHIV and PH. The mean survival (95% CI) of PLHIV and PH was 37.4 months (29.9 to 44.8). Participants alive at 1, 2 and 3 years were 85.8% (74.1% to 95.0%), 75.2% (61.9% to 86.7%) and 61.9% (51.8% to 71.6%), respectively. ED visits and hospitalisation rates were 73.3% (32.5% to 99.9%) and 71.2% (42.4% to 94.2%), respectively. More severe disease, measured by echocardiogram, was associated with poorer prognosis (β -0.01, 95% CI -0.02 to 0.00, p=0.009). Survival was higher in high-income countries compared with lower-income countries (β 0.50, 95% CI 0.28 to 0.73, p<0.001) and in Europe compared with the America (β 0.56, 95% CI 0.37 to 0.75, p<0.001).
CONCLUSION
Our study confirms poor prognosis and high healthcare utilisation for PLHIV and PH. Prognosis is associated with country income level, geographic region and PH severity. This highlights the importance of screening in this population.
PROSPERO REGISTRATION NUMBER
CRD42023395023.
Topics: Humans; Hypertension, Pulmonary; Hospitalization; HIV Infections
PubMed: 38604738
DOI: 10.1136/bmjresp-2024-002318 -
Current Heart Failure Reports Oct 2023This systematic review aims to summarise clustering studies in heart failure (HF) and guide future clinical trial design and implementation in routine clinical practice. (Review)
Review
REVIEW PURPOSE
This systematic review aims to summarise clustering studies in heart failure (HF) and guide future clinical trial design and implementation in routine clinical practice.
FINDINGS
34 studies were identified (n = 19 in HF with preserved ejection fraction (HFpEF)). There was significant heterogeneity invariables and techniques used. However, 149/165 described clusters could be assigned to one of nine phenotypes: 1) young, low comorbidity burden; 2) metabolic; 3) cardio-renal; 4) atrial fibrillation (AF); 5) elderly female AF; 6) hypertensive-comorbidity; 7) ischaemic-male; 8) valvular disease; and 9) devices. There was room for improvement on important methodological topics for all clustering studies such as external validation and transparency of the modelling process. The large overlap between the phenotypes of the clustering studies shows that clustering is a robust approach for discovering clinically distinct phenotypes. However, future studies should invest in a phenotype model that can be implemented in routine clinical practice and future clinical trial design. HF = heart failure, EF = ejection fraction, HFpEF = heart failure with preserved ejection fraction, HFrEF = heart failure with reduced ejection fraction, CKD = chronic kidney disease, AF = atrial fibrillation, IHD = ischaemic heart disease, CAD = coronary artery disease, ICD = implantable cardioverter-defibrillator, CRT = cardiac resynchronization therapy, NT-proBNP = N-terminal pro b-type natriuretic peptide, BMI = Body Mass Index, COPD = Chronic obstructive pulmonary disease.
PubMed: 37477803
DOI: 10.1007/s11897-023-00615-z -
BMC Pulmonary Medicine Nov 2023Factors predisposing to increased mortality with COVID-19 infection have been identified as male sex, hypertension, obesity, and increasing age. Early studies looking at... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Factors predisposing to increased mortality with COVID-19 infection have been identified as male sex, hypertension, obesity, and increasing age. Early studies looking at airway diseases gave some contradictory results. The purpose of our study was to determine global variation in studies in patients hospitalized with COVID-19 in the prevalence of COPD and asthma; and to determine whether the presence of asthma or COPD affected mortality in the same hospital population.
METHODS
A systematic review and meta-analysis of the published literature of COPD and asthma as co-morbidities in patients hospitalized with COVID-19 was performed, looking firstly at the prevalence of these diseases in patients hospitalized with COVID-19, and secondly at the relative risk of death from any cause for patients with asthma or COPD.
RESULTS
Prevalence of both airway diseases varied markedly by region, making meaningful pooled global estimates of prevalence invalid and not of clinical utility. For individual studies, the interquartile range for asthma prevalence was 4.21 to 12.39%, and for COPD, 3.82 to 11.85%. The relative risk of death with COPD for patients hospitalized with COVID-19 was 1.863 (95% CI 1.640-2.115), while the risk with asthma was 0.918 (95% CI 0.767 to 1.098) with no evidence of increased mortality.
CONCLUSIONS
For asthma and COPD, prevalence in patients hospitalized with COVID-19 varies markedly by region. We found no evidence that asthma predisposed to increased mortality in COVID-19 disease. For COPD, there was clear evidence of an association with increased mortality.
TRIAL REGISTRATION
The trial was registered with PROSPERO: registration number CRD42021289886.
Topics: Humans; Male; COVID-19; Pulmonary Disease, Chronic Obstructive; Asthma; Comorbidity; Prevalence
PubMed: 37993829
DOI: 10.1186/s12890-023-02761-5 -
BMJ Open Respiratory Research Mar 2024Vasoactive drugs have exhibited clinical efficacy in addressing pulmonary arterial hypertension, manifesting a significant reduction in morbidity and mortality....
OBJECTIVES
Vasoactive drugs have exhibited clinical efficacy in addressing pulmonary arterial hypertension, manifesting a significant reduction in morbidity and mortality. Pulmonary hypertension may complicate advanced interstitial lung disease (PH-ILD) and is associated with high rates of disability, hospitalisation due to cardiac and respiratory illnesses, and mortality. Prior management hinged on treating the underlying lung disease and comorbidities. However, the INCREASE trial of inhaled treprostinil in PH-ILD has demonstrated that PH-ILD can be effectively treated with vasoactive drugs.
METHODS
This comprehensive systematic review examines the evidence for vasoactive drugs in the management of PH-ILD.
RESULTS
A total of 1442 pubblications were screened, 11 RCTs were considered for quantitative synthesis. Unfortunately, the salient studies are limited by population heterogeneity, short-term follow-up and the selection of outcomes with uncertain clinical significance.
CONCLUSIONS
This systematic review underscores the necessity of establishing a precision medicine-oriented strategy, directed at uncovering and addressing the intricate cellular and molecular mechanisms that underlie the pathophysiology of PH-ILD.
PROSPERO REGISTRATION NUMBER
CRD42023457482.
Topics: Humans; Hypertension, Pulmonary; Lung Diseases, Interstitial; Comorbidity
PubMed: 38479818
DOI: 10.1136/bmjresp-2023-002161 -
Frontiers in Pharmacology 2023Older patients with dementia always need multiple drugs due to comorbidities and cognitive impairment, further complicating drug treatment and increasing the risk of...
Older patients with dementia always need multiple drugs due to comorbidities and cognitive impairment, further complicating drug treatment and increasing the risk of potentially inappropriate medication. The objective of our study is to estimate the global prevalence of polypharmacy and potentially inappropriate medication (PIM) and explore the factors of PIM for older patients with dementia. We searched PubMed, Embase (Ovid), and Web of Science databases to identify eligible studies from inception to 16 June 2023. We conducted a meta-analysis for observational studies reporting the prevalence of potentially inappropriate medication and polypharmacy in older patients with dementia using a random-effect model. The factors associated with PIM were meta-analyzed. Overall, 62 eligible studies were included, of which 53 studies reported the prevalence of PIM and 28 studies reported the prevalence of polypharmacy. The pooled estimate of PIM and polypharmacy was 43% (95% CI 38-48) and 62% (95% CI 52-71), respectively. Sixteen studies referred to factors associated with PIM use, and 15 factors were further pooled. Polypharmacy (2.83, 95% CI 1.80-4.44), diabetes (1.31, 95% CI 1.04-1.65), heart failure (1.17, 95% CI 1.00-1.37), depression (1.45, 95% CI 1.14-1.88), history of cancer (1.20, 95% CI 1.09-1.32), hypertension (1.46, 95% CI 1.05-2.03), ischemic heart disease (1.55, 95% CI 0.77-3.12), any cardiovascular disease (1.11, 95% CI 1.06-1.17), vascular dementia (1.09, 95% CI 1.03-1.16), chronic obstructive pulmonary disease (1.39, 95% CI 1.13-1.72), and psychosis (1.91, 95% CI 1.04-3.53) are positively associated with PIM use. PIM and polypharmacy were highly prevalent in older patients with dementia. Among different regions, the pooled estimate of PIM use and polypharmacy varied widely. Increasing PIM in older patients with dementia was closely associated with polypharmacy. For other comorbidities such as heart failure and diabetes, prescribing should be cautioned.
PubMed: 37693899
DOI: 10.3389/fphar.2023.1221069 -
Texas Heart Institute Journal Aug 2023The study aimed to review differences in the presentation and outcomes of acute pulmonary embolism (PE) between men and women. (Meta-Analysis)
Meta-Analysis
BACKGROUND
The study aimed to review differences in the presentation and outcomes of acute pulmonary embolism (PE) between men and women.
METHODS
PubMed, CENTRAL, Web of Science, and Embase were searched for studies comparing clinical features or outcomes of PE between men and women. Baseline comorbidities, risk factors, clinical features, and mortality rates were also compared between men and women.
RESULTS
Fourteen studies were included. It was noted that men presented with PE at a statistically significantly younger age than women (P < .001). Smoking history (P < .001), lung disease (P = .004), malignancy (P = .02), and unprovoked PE (P = .004) were significantly more frequent among men than among women. There was no difference between the sexes for hypertension, diabetes, and a history of recent immobilization. A significantly higher proportion of men presented with chest pain (P = .02) and hemoptysis (P < .001), whereas syncope (P = .005) was more frequent in women. Compared with men, women had a higher proportion of high-risk PE (P = .003). There was no difference in the use of thrombolytic therapy or inferior vena cava filter. Neither crude nor adjusted mortality rates were significantly different between men and women.
CONCLUSION
This review found that the age at presentation, comorbidities, and symptoms of PE differed between men and women. Limited data also suggest that women more frequently had high-risk PE compared with men, but the use of thrombolytic therapy did not differ between the 2 sexes. Importantly, both crude and adjusted data show that the mortality rate did not differ between men and women.
Topics: Male; Humans; Female; Pulmonary Embolism; Risk Factors; Comorbidity; Neoplasms; Acute Disease
PubMed: 37577766
DOI: 10.14503/THIJ-23-8113 -
Annals of Medicine Dec 2024Pulmonary hypertension (PH) is a life-threatening disease, especially in paediatric population. Symptoms of paediatric PH are non-specific. Accurate detection of... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Pulmonary hypertension (PH) is a life-threatening disease, especially in paediatric population. Symptoms of paediatric PH are non-specific. Accurate detection of paediatric PH is helpful for early treatment and mortality reduction. Therefore, we assessed the overall performance of brain natriuretic peptide (BNP) and N-terminal brain natriuretic peptide (NT-proBNP) for diagnosing PH in paediatric population.
METHODS
PubMed, Web of Science, Cochrane Library and Embase databases were screened since their respective inceptions until August 2023. A bivariate random model and a hierarchical summary receiver operating characteristic model were used together to evaluate and summarize the overall performance of BNP and NT-proBNP for diagnosing paediatric PH.
RESULTS
Eighteen studies using BNP/NT-proBNP were assessed, comprising 1127 samples. The pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR) and area under the curve (AUROC) of BNP/NT-proBNP were separately as 0.81, 0.87, 6.33, 0.21, 29.50 and 0.91, suggesting a good diagnostic performance of BNP/NT-proBNP for detecting PH in paediatric population. For BNP, the pooled sensitivity, specificity, PLR, NLR, DOR and AUROC were 0.83, 0.89, 7.76, 0.19, 40.90 and 0.93, indicating the diagnostic accuracy of BNP for paediatric PH patients was good. For NT-proBNP, the pooled sensitivity, specificity, PLR, NLR, DOR and AUROC were 0.81, 0.86, 5.59, 0.22, 24.96 and 0.90, showing that NT-proBNP could provide a good value for detecting paediatric PH.
CONCLUSIONS
Both BNP and NT-proBNP are good markers for differentiating paediatric PH patients from non-PH individuals.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Biomarkers; Hypertension, Pulmonary; Natriuretic Peptide, Brain; Peptide Fragments; ROC Curve; Sensitivity and Specificity; Infant, Newborn
PubMed: 38753384
DOI: 10.1080/07853890.2024.2352603 -
BMC Pulmonary Medicine Mar 2024In the early literature, unintentional vitamin C deficiency in humans was associated with heart failure. Experimental vitamin C deficiency in guinea pigs caused...
BACKGROUND
In the early literature, unintentional vitamin C deficiency in humans was associated with heart failure. Experimental vitamin C deficiency in guinea pigs caused enlargement of the heart. The purpose of this study was to collect and analyze case reports on vitamin C and pulmonary hypertension.
METHODS
We searched Pubmed and Scopus for case studies in which vitamin C deficiency was considered to be the cause of pulmonary hypertension. We selected reports in which pulmonary hypertension was diagnosed by echocardiography or catheterization, for any age, sex, or dosage of vitamin C. We extracted quantitative data for our analysis. We used the mean pulmonary artery pressure (mPAP) as the outcome of primary interest.
RESULTS
We identified 32 case reports, 21 of which were published in the last 5 years. Dyspnea was reported in 69%, edema in 53% and fatigue in 28% of the patients. Vitamin C plasma levels, measured in 27 cases, were undetectable in 24 and very low in 3 cases. Diet was poor in 30 cases and 17 cases had neuropsychiatric disorders. Right ventricular enlargement was reported in 24 cases. During periods of vitamin C deficiency, the median mPAP was 48 mmHg (range 29-77 mmHg; N = 28). After the start of vitamin C administration, the median mPAP was 20 mmHg (range 12-33 mmHg; N = 18). For the latter 18 cases, mPAP was 2.4-fold (median) higher during vitamin C deficiency. Pulmonary vascular resistance (PVR) during vitamin C deficiency was reported for 9 cases, ranging from 4.1 to 41 Wood units. PVR was 9-fold (median; N = 5) higher during vitamin C deficiency than during vitamin C administration. In 8 cases, there was direct evidence that the cases were pulmonary artery hypertension (PAH). Probably the majority of the remaining cases were also PAH.
CONCLUSIONS
The cases analyzed in our study indicate that pulmonary hypertension can be one explanation for the reported heart failure of scurvy patients in the early literature. It would seem sensible to measure plasma vitamin C levels of patients with PH and examine the effects of vitamin C administration.
Topics: Humans; Animals; Guinea Pigs; Hypertension, Pulmonary; Scurvy; Pulmonary Arterial Hypertension; Vascular Resistance; Ascorbic Acid Deficiency; Heart Failure; Ascorbic Acid
PubMed: 38504249
DOI: 10.1186/s12890-024-02941-x -
Frontiers in Radiology 2024Chronic pulmonary embolism (PE) may result in pulmonary hypertension (CTEPH). Automated CT pulmonary angiography (CTPA) interpretation using artificial intelligence (AI)...
BACKGROUND
Chronic pulmonary embolism (PE) may result in pulmonary hypertension (CTEPH). Automated CT pulmonary angiography (CTPA) interpretation using artificial intelligence (AI) tools has the potential for improving diagnostic accuracy, reducing delays to diagnosis and yielding novel information of clinical value in CTEPH. This systematic review aimed to identify and appraise existing studies presenting AI tools for CTPA in the context of chronic PE and CTEPH.
METHODS
MEDLINE and EMBASE databases were searched on 11 September 2023. Journal publications presenting AI tools for CTPA in patients with chronic PE or CTEPH were eligible for inclusion. Information about model design, training and testing was extracted. Study quality was assessed using compliance with the Checklist for Artificial Intelligence in Medical Imaging (CLAIM).
RESULTS
Five studies were eligible for inclusion, all of which presented deep learning AI models to evaluate PE. First study evaluated the lung parenchymal changes in chronic PE and two studies used an AI model to classify PE, with none directly assessing the pulmonary arteries. In addition, a separate study developed a CNN tool to distinguish chronic PE using 2D maximum intensity projection reconstructions. While another study assessed a novel automated approach to quantify hypoperfusion to help in the severity assessment of CTEPH. While descriptions of model design and training were reliable, descriptions of the datasets used in training and testing were more inconsistent.
CONCLUSION
In contrast to AI tools for evaluation of acute PE, there has been limited investigation of AI-based approaches to characterising chronic PE and CTEPH on CTPA. Existing studies are limited by inconsistent reporting of the data used to train and test their models. This systematic review highlights an area of potential expansion for the field of AI in medical image interpretation.There is limited knowledge of A systematic review of artificial intelligence tools for chronic pulmonary embolism in CT. This systematic review provides an assessment on research that examined deep learning algorithms in detecting CTEPH on CTPA images, the number of studies assessing the utility of deep learning on CTPA in CTEPH was unclear and should be highlighted.
PubMed: 38654762
DOI: 10.3389/fradi.2024.1335349