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PloS One 2024Familial Pancreatic Cancer (FPC) presents a notable risk, with 3-10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Familial Pancreatic Cancer (FPC) presents a notable risk, with 3-10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC, suggesting BRCA1/BRCA2 mutations play a role. BRCA gene functions in DNA repair impact FPC management, influencing sensitivity to therapies like PARP inhibitors. Identifying mutations not only aids FPC treatment but also reveals broader cancer risks. However, challenges persist in selectively applying genetic testing due to cost constraints. This Systematic Review focuses on BRCA1/BRCA2 significance in FPC, diagnostic criteria, prognostic value, and limitations.
METHOD
Original articles published from 2013 to January 2023 were sourced from databases such as Scopus, PubMed, ProQuest, and ScienceDirect. Inclusion criteria comprised observational cohort or diagnostic studies related to the role of BRCA1/2 mutation in correlation to familial pancreatic cancer (FPC), while article reviews, narrative reviews, and non-relevant content were excluded. The assessment of bias used ROBINS-I, and the results were organized using PICOS criteria in a Google spreadsheet table. The systematic review adhered to the PRISMA 2020 checklist.
RESULT
We analyzed 9 diagnostic studies encompassing 1325 families and 4267 patients from Italy, USA, and Poland. Despite the limitation of limited homogenous PICO studies, our findings effectively present evidence. BRCA1/2 demonstrates benefits in detecting first-degree relatives FPC involvement with 2.26-10 times higher risk. These mutation findings also play an important role since with the BRCA1/2 targeted therapy, Poly-ADP Ribose Polymerase inhibitors (PARP) may give better outcomes of FPC treatment. Analysis of BRCA1 and BRCA2 administration's impact on odds ratio (OR) based on six and five studies respectively. BRCA1 exhibited non-significant effects (OR = 1.26, P = 0.51), while BRCA2 showed significance (OR = 1.68, P = 0.04). No heterogeneity observed, indicating consistent results. Further research on BRCA1 is warranted.
CONCLUSION
Detecting the BRCA1/2 mutation gene offers numerous advantages, particularly in its correlation with FPC. For diagnostic and prognostic purposes, testing is strongly recommended for first-degree relatives, who face a significantly higher risk (2.26-10 times) of being affected. Additionally, FPC patients with identified BRCA1/2 mutations exhibit a more favorable prognosis compared to the non-mutated population. This is attributed to the availability of targeted BRCA1/2 therapy, which maximizes treatment outcomes.
Topics: Humans; Pancreatic Neoplasms; Germ-Line Mutation; BRCA2 Protein; BRCA1 Protein; Genetic Predisposition to Disease; Carcinoma
PubMed: 38809921
DOI: 10.1371/journal.pone.0299276 -
Journal of Cardiothoracic Surgery May 2024A fistulous tract in the mitro-aortic intervalvular fibrosa (MAIVF) is a rare entity, which presents as a complication of endocarditis or surgical trauma. Generally, it...
BACKGROUND
A fistulous tract in the mitro-aortic intervalvular fibrosa (MAIVF) is a rare entity, which presents as a complication of endocarditis or surgical trauma. Generally, it is associated to a pseudoaneurysm of the MAIVF (p-MAIVF) or aortic abscesses. MAIVF fistulas could potentially lead to devastating complications and a high mortality rate. This condition is managed surgically, either by a percutaneous closure or an open surgical approach. Herein we report the complex case of a patient with a MAIVF fistula secondary to bacterial endocarditis. Further clinical deterioration was caused by severe aortic valve insufficiency and hemodynamic compromise, requiring surgical intervention.
CASE PRESENTATION
A 74-year-old male patient was admitted to a primary care center with complaints of malaise, asthenia, adynamia, hyporexia, and lower limb edema over the past eight days. His past medical history is positive for arterial hypertension and being monorenal. A transesophageal echocardiogram (TEE) was performed, exhibiting a 56% left ventricle ejection fraction (LVEF) and complicated aortic valve endocarditis. Surgical management through an open approach included vegetation resection, valve replacement, and closure of the MAIVF fistula. After completing antibiotic therapy, the patient was discharged without complications. During postoperative follow-up, the patient remained asymptomatic, and the control echocardiogram showed no signs of MAIVF fistula.4.
CONCLUSIONS
The clinical case of a patient with a MAIVF fistula secondary to endocarditis by Streptococcus Anginous was presented. The fistulous tract was not associated to p-MAIVF or aortic abscess, findings which further deteriorate the patient's condition and increase the likelihood of fatality. This case reinforces the importance of a prompt diagnosis through cardiac imaging and timely surgical closure of the defect.
Topics: Humans; Male; Aged; Endocarditis, Bacterial; Aortic Valve; Mitral Valve; Echocardiography, Transesophageal; Fistula
PubMed: 38807242
DOI: 10.1186/s13019-024-02736-5 -
Current Hypertension Reports Jul 2024Machine learning (ML) approaches are an emerging alternative for healthcare risk prediction. We aimed to synthesise the literature on ML and classical regression studies... (Review)
Review
PURPOSE OF REVIEW
Machine learning (ML) approaches are an emerging alternative for healthcare risk prediction. We aimed to synthesise the literature on ML and classical regression studies exploring potential prognostic factors and to compare prediction performance for pre-eclampsia.
RECENT FINDINGS
From 9382 studies retrieved, 82 were included. Sixty-six publications exclusively reported eighty-four classical regression models to predict variable timing of onset of pre-eclampsia. Another six publications reported purely ML algorithms, whilst another 10 publications reported ML algorithms and classical regression models in the same sample with 8 of 10 findings that ML algorithms outperformed classical regression models. The most frequent prognostic factors were age, pre-pregnancy body mass index, chronic medical conditions, parity, prior history of pre-eclampsia, mean arterial pressure, uterine artery pulsatility index, placental growth factor, and pregnancy-associated plasma protein A. Top performing ML algorithms were random forest (area under the curve (AUC) = 0.94, 95% confidence interval (CI) 0.91-0.96) and extreme gradient boosting (AUC = 0.92, 95% CI 0.90-0.94). The competing risk model had similar performance (AUC = 0.92, 95% CI 0.91-0.92) compared with a neural network. Calibration performance was not reported in the majority of publications. ML algorithms had better performance compared to classical regression models in pre-eclampsia prediction. Random forest and boosting-type algorithms had the best prediction performance. Further research should focus on comparing ML algorithms to classical regression models using the same samples and evaluation metrics to gain insight into their performance. External validation of ML algorithms is warranted to gain insights into their generalisability.
Topics: Humans; Pre-Eclampsia; Pregnancy; Female; Machine Learning; Algorithms; Prognosis; Regression Analysis; Risk Assessment; Risk Factors; Predictive Value of Tests
PubMed: 38806766
DOI: 10.1007/s11906-024-01297-1 -
Frontiers in Pharmacology 2024As a traditional Chinese medicinal herb with a long history, Codonopsis pilosula (CP) has attracted much attention from the medical community in recent years. This... (Review)
Review
As a traditional Chinese medicinal herb with a long history, Codonopsis pilosula (CP) has attracted much attention from the medical community in recent years. This review summarizes the research progress of CP in the medical field in the past 5 years. By searching and analyzing the literature, and combining with Cytoscape software, we comprehensively examined the role and mechanism of action of CP in individual application, combination drug application, and the role and mechanism of action of codonopsis pilosula's active ingredients in a variety of diseases. It also analyzes the medicinal use of CP and its application value in medicine. This review found that CP mainly manifests important roles in several diseases, such as cardiovascular system, nervous system, digestive system, immune system, etc., and regulates the development of many diseases mainly through the mechanisms of inflammation regulation, oxidative stress, immunomodulation and apoptosis. Its rich pharmacological activities and diverse medicinal effects endow CP with broad prospects and application values. This review provides valuable reference and guidance for the further development of CP in traditional Chinese medicine.
PubMed: 38803438
DOI: 10.3389/fphar.2024.1415147 -
Obstetrics & Gynecology Science May 2024This study aimed to summarize the current knowledge on the benefits of in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic testing for...
This study aimed to summarize the current knowledge on the benefits of in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic testing for aneuploidy (PGT-A) and to discuss the role of PGT-A in patients of different ages undergoing assisted reproduction. A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 checklist. Registration number: CRD42022354697. Studies were identified by searching the PubMed, Cochrane Library, Google Scholar, Scopus, Embase, and ClinicalTrials databases. Seven meta-analyses were performed with additional stratification of age and prognosis of the women studied. Clinical pregnancy rate per embryo transfer in patients aged >35 years was higher in the PGT-A group (P=0.0002) than in controls. Live birth rate (LBR) per embryo transfer in women 35 years old or younger (P=0.002) was higher in the PGT-A group. The LBR per patient in women aged >35 years was higher in the PGT-A group (P=0.004). The effects of PGT-A on LBR in patients with poor prognosis showed a statistically significant increase (P=0.003). There was no significant difference in the rate between the two groups. PGT-A is effective and can be recommended for patients aged >35 years undergoing assisted reproduction to improve their reproductive outcomes. Moreover, our study showed the possible benefits of PGT-A in patients with a poor prognosis. Overall, our findings suggest that PGT-A is a valuable tool for improving the reproductive outcomes of assisted reproductive procedures in older women and those with a history of pregnancy complications.
PubMed: 38803301
DOI: 10.5468/ogs.24028 -
Frontiers in Oncology 2024Newly identified as a radiological concept, interstitial lung abnormalities (ILA) is emerging as a prognostic factor for lung cancer. Yet, debates persist regarding the...
BACKGROUND
Newly identified as a radiological concept, interstitial lung abnormalities (ILA) is emerging as a prognostic factor for lung cancer. Yet, debates persist regarding the prognostic significance of ILA in lung cancer. Our inaugural meta-analysis aimed to investigate the correlation between ILA and lung cancer outcomes, offering additional insights for clinicians in predicting patient prognosis.
METHODS
Articles meeting the criteria were found through PubMed, the Cochrane Library, EMBASE, and Web of Science by February 29, 2024. The outcomes evaluated were the survival rates such as overall survival (OS), disease-free survival (DFS), progression-free survival (PFS), and cancer-specific survival (CSS).
RESULTS
A total of 12 articles with 4416 patients were included in this meta-analysis. The pooled results showed that lung cancer patients with interstitial lung abnormalities had an inferior OS (n=11; HR=2.22; 95% CI=1.68-2.95; P<0.001; I = 72.0%; Ph<0.001), PFS (n=3; HR=1.59; 95% CI=1.08-2.32; P=0.017; I = 0%; Ph=0.772), and CSS (n=2; HR=4.00; 95% CI=1.94-8.25; P<0.001; I = 0%; Ph=0.594) than those without, however, the ILA was not significantly associated with the DFS (n=2; HR=2.07; 95% CI=0.94-7.02; P=0.066; I = 90.4%; Ph=0.001). Moreover, lung cancer patients with ILA were significantly correlated with male (OR=2.43; 95% CI=1.48-3.98; P<0.001), smoking history (OR=2.11; 95% CI=1.37-3.25; P<0.001), advanced age (OR=2.50; 95% CI=1.56-4.03; P<0.001), squamous carcinoma (OR=0.42; 95% CI=0.24-0.71; P=0.01), and EGFR mutation (OR=0.50; 95% CI=0.32-0.78; P=0.002). The correlation between ILA and race, stage, ALK, however, was not significant.
CONCLUSION
ILA was a availability factors of prognosis in patients with lung cancers. These findings highlight the importance of early pulmonary fibrosis, namely ILA for prognosis in patients with lung cancer, and provide a partial rationale for future clinical work.
PubMed: 38800393
DOI: 10.3389/fonc.2024.1397246 -
Cureus Apr 2024infection (CDI) is a clinical and laboratory diagnosis. Populations at higher risk of developing disease require a high clinical index of suspicion for laboratory... (Review)
Review
INTRODUCTION
infection (CDI) is a clinical and laboratory diagnosis. Populations at higher risk of developing disease require a high clinical index of suspicion for laboratory testing to avoid incorrect assumptions of colonization. Common risk factors include recent antibiotic use, elderly (>65 years old), and immunocompromised patients. ssays should be ordered in an algorithm approach to diagnose an infection rather than colonization. Screening tests are widely available in hospital systems, but novel molecular testing may aid in diagnosis in patients with inconclusive or discordant antigen and toxin test results. Methods: Data was extracted from PubMed, Scopus, and Cumulative Index of Nursing and Allied Health Literature (CINAHL) databases based on the keywords "", "toxin assay", and "toxic megacolon". The data extracted is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A total of 27 reports were included in this systematic review.
RESULTS
Testing patients with a significant gastrointestinal surgical history, hypogammaglobulinemia, inflammatory bowel disease, intensive care unit, and immunocompromised patients for CDI is highly recommended. Diarrhea in these subsets of patients requires correlation of clinical context and an understanding of assay results to avoid over- and under-treating.
CONCLUSION
CDI should be considered in all patients with traditional risk factors. Heightened clinical suspicion of CDI is required in patients with hypogammaglobulinemia, transplant recipients, patients with gastrointestinal surgical history, and inflammatory bowel disease. Testing should be limited to patients with clinical manifestations of CDI to ensure a high pretest probability for test interpretation. Healthcare workers should adhere to testing algorithms to optimize yield in the appropriate clinical context. Diagnostic assays should follow a sequential, stepwise approach to categorize the toxin expression status of the bacteria accurately.
PubMed: 38800338
DOI: 10.7759/cureus.59016 -
Diabetes, Metabolic Syndrome and... 2024In recent years, the countries of the Middle East and North Africa (MENA) region have experienced alarming increases in the prevalence of childhood overweight and... (Review)
Review
In recent years, the countries of the Middle East and North Africa (MENA) region have experienced alarming increases in the prevalence of childhood overweight and obesity. This updated systematic review sought to measure the prevalence and determinants of obesity and overweight among children and adolescents in MENA countries. A literature search for relevant observational studies published in English was conducted using PubMed, Web of Science, Google Scholar, and Saudi Digital Library. The risk of bias was evaluated using the Newcastle-Ottawa Scale. Twenty-one published articles during the past five years were included in the systematic review. Varied approaches were used to diagnose childhood overweight and obesity, including the International Obesity Taskforce (IOTF), Centre for Disease Control (CDC), World Health Organization (WHO), and Saudi Growth Pattern Curves. We found that the combined prevalence of childhood overweight and obesity in the Middle East is up to 49.4%, depending on the methods applied in their studies. Risk factors identified were age, male gender, lack of sufficient physical activity, consumption of fried food, perceived stress level, number of family members, family size, mother's occupation, education level, family history of obesity, high energy consumption from carbohydrates, ≥2 hours spent on watching television on weekend days with overweight, and always eating breakfast while watching television with obesity. The results of this review indicate that the issue of childhood and adolescent overweight and obesity in the Middle East is substantial and concerning. Most of the risk factors identified are modifiable and, if given appropriate attention, could significantly reduce the burden of associated chronic complications.
PubMed: 38799280
DOI: 10.2147/DMSO.S458003 -
Genes May 2024When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is... (Review)
Review
When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), , pathogenic variant, Ehlers-Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture.
Topics: Humans; Hemorrhagic Stroke; Child, Preschool; Genetic Testing; Craniocerebral Trauma; Infant; Diagnosis, Differential
PubMed: 38790247
DOI: 10.3390/genes15050618 -
BMC Public Health May 2024Inflammatory bowel disease (IBD) consists of two main types: Crohn's disease (CD) and ulcerative colitis (UC). The epidemiology of IBD patients has not been... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Inflammatory bowel disease (IBD) consists of two main types: Crohn's disease (CD) and ulcerative colitis (UC). The epidemiology of IBD patients has not been comprehensively studied in EMRO countries; therefore, we conducted this meta-analysis to study the epidemiology of this disease in these countries.
METHODS
We searched four international databases, namely Scopus, Web of Knowledge (ISI), Medline/PubMed, and ProQuest, from inception up to the end of May 2023. The Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) guideline was used to carry out this systematic review and meta-analysis investigation. Using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist, the quality of the selected papers was assessed.
RESULTS
Based on the results of this study, the incidence of UC in EMRO countries was 2.65 per 100,000 (95% CI: 1.39-3.90), and the incidence of CD was 1.16 per 100,000 (95% CI: 0.73-1.59). The most commonly involved intestinal segment in CD was the terminal ileum (44.7%, 95% CI: 34.7-55.2), followed by the ileum (29.8%, 95% CI: 22.2-38.6), and colon (18.7%, 95% CI: 10.8-30.4). However, in UC patients, extensive colitis was the most common finding (32.3%, 95% CI: 26.4-38.8), followed by proctosigmoiditis (27.9%, 95% CI: 21.1-35.8), left-sided colitis (27.4%, 95% CI: 22.7-32.7), and proctitis (22.6%, 95% CI: 17.5-28.5).
CONCLUSION
As a result, we were able to establish the traits of IBD patients in EMRO nations. UC patients had a higher incidence than CD patients. The most common regions of involvement in CD and UC patients, respectively, were the colon and pancolitis. Compared to UC patients, CD patients had a higher history of appendectomy.
Topics: Humans; Incidence; Inflammatory Bowel Diseases; Colitis, Ulcerative; Mediterranean Region; Crohn Disease; Middle East
PubMed: 38789987
DOI: 10.1186/s12889-024-18816-z