Unrecognized Disease Research Articles

High prevalence of unrecognized chronic kidney disease in the Lolland-Falster Health Study: a population-based study in a rural provincial area of Denmark.

Chronic kidney disease (CKD) affects 10-15% globally and is a marked independent risk factor for cardiovascular disease. Prevalence estimations are essential for public health planning and implementation of CKD treatment strategies. This study aimed to estimate the prevalence and stages of CKD in the population-based Lolland-Falster Health Study, set in a rural provincial area with the lowest socioeconomic status in Denmark. Additionally, the study characterized participants with CKD, evaluated the overall disease recognition, including the awareness of CKD and compared it with other common conditions. Cross-sectional data were obtained from clinical examinations, biochemical analyses, and questionnaires. CKD was defined as albuminuria (urine albumin-creatinine ratio ≥30 mg/g), estimated glomerular filtration rate (eGFR) <60 ml/min/1.73 m², or by a diagnosis in the National Patient Register. Patient awareness was assessed by self-reported CKD, and overall disease recognition by either a registered hospital diagnosis or self-reported CKD. Among 16 097 adults (median age 58.6 years), CKD prevalence was 18.0% (n = 2903), with 70.1% identified by albuminuria, 28.4% by reduced eGFR, and 1.5% by a registered diagnosis alone. Of those with CKD, 98.8% had stages 1-3 (eGFR ≥30 ml/min/1.73 m²), and 1.2% had stages 4-5 (eGFR <30 ml/min/1.73 m²). Female sex, comorbidities, smoking, and low socioeconomic parameters were independently associated with CKD. Patient awareness of CKD was 4.4%, compared to >50% for hypertension and >80% for diabetes, and the overall CKD recognition (self-reported or registered diagnosis) was 7.1%. Thus, in this population-based study, CKD was highly prevalent but poorly recognized, indicating great potential for preventing CKD progression and related complications.

First Report of Kosakonia cowanii Causing Bacterial Blight on Amorphophallus konjac in China.

Amorphophallus konjac, commonly known as konjac, has significant economic and medicinal value, particularly in Asian countries (Gao et al. 2022). In July 2024, an outbreak of leaf blight was observed in a one-hectare field in Fuyuan (25.67°N; 104.25°E), Yunnan, China. The disease manifested as brown lesions starting at the leaf tips or edges, which rapidly darkened and expanded, leading to leaf necrosis. In severe cases, the disease affected the overall plant health, reducing corm yield and quality significantly. To isolate the causal agent, six diseased leaves from six plants were surface disinfected, and the junction region of healthy and diseased tissues was excised and homogenized in a 15-ml sterile centrifuge tube with 2 ml of sterile distilled water. The resulting bacterial suspension was serially diluted to 10-5 and 200 μl of the diluted sample was spread on LB agar plates. Three pure cultures (designated MY1, MY2, and MY3) were obtained through successive streaking. The isolated colonies were light yellow, convex, and nearly round in shape. Genomic DNA from the three pure isolates was extracted and used to amplify partial sequences of 16S ribosomal RNA (16S rRNA) with primers 27F/1492R (Brady et al. 2008), the beta-subunit of RNA polymerase (rpoB) using primers CM81-F/CM32b-R (Polz and Cavanaugh 1998), and the DNA gyrase subunit B (gyrB) with primers UP-1/UP-2r (Yamamoto and Harayama 1995). The sequences for 16S rRNA (accession nos. PQ288765-PQ288767), rpoB (PQ304887-PQ304889), and gyrB (PQ304884-PQ304886) were deposited in GenBank. Nucleotide BLAST analysis showed that the rpoB, gyrB and 16S rRNA sequences of isolate MY1 shared 99.36, 98.89 and 99.86% identity with those of K. cowanii strains (EU629168, CP107077 and OR121838), respectively. Furthermore, a multigene phylogenetic analysis revealed a strongly supported clade including strain MY1, MY2, MY3 and other K. cowanii isolates. To test pathogenicity, a greenhouse experiment was conducted using five four-month-old healthy A. konjac plants grown in pots. For each plant, three leaves were inoculated with a bacterial suspension of strain MY1 (108 CFU/ml) via leaf infiltration. Another set of three leaves were infiltrated with sterile water as controls. These plants were enclosed in plastic bags for 24 hours post-inoculation. Inoculated plants initially exhibited brown lesions with a yellow halo, which subsequently developed into dark symptoms within seven days. Control plants remained symptom-free. This experiment was repeated three times with consistent results. K. cowanii was reisolated from infected leaves and identified based on Sanger sequencing of 16S rRNA, thus fulfilling Koch's postulates. In recent years, K. cowanii has been confirmed to cause fruit blotch on Trichosanthis fructus (Chen et al. 2024), stalk rot in foxtail millet (Han et al. 2023), bacterial wilt on patchouli (Zhang et al. 2022), and bacterial blight on soybean (Krawczyk and Borodynko-Filas 2020). To our knowledge, this is the first report of K. cowanii causing leaf blight on A. konjac worldwide. This study identifies a previously unrecognized disease affecting konjac production. The identification of the causal agent provides essential information for the diagnosis and management of this disease.

Changes in Erythrocytes in 88 Hyperthyroid Cats.

There is only a limited number of studies that show alterations in erythrocytes in feline hyperthyroidism. Discrepancies between the findings of these studies may be caused by the presence of concurrent diseases and the use of various haematological analysers. This study analysed changes in red blood cells (RBCs) in 88 hyperthyroid cats without concurrent diseases, to identify associations between observed changes and to assess the influence of serum thyroxine (T4) concentration, cat age, and sex, on RBC changes. Among the eighty-eight hyperthyroid cats, erythrocytosis was observed in twelve, anaemia in four, macrocytosis in two, and microcytosis in three. Three of the four cases of anaemia probably resulted from concurrent unrecognised disease. Interestingly, all cases of microcytosis were recognized in cats that had erythrocytosis. This study identified a moderate negative correlation between RBC count and mean corpuscular volume (MCV; r = -0.57, p < 0.001). Concluding, it appears that erythrocytosis may be a response to the development of microcytosis. The correlation between RBC count and MCV in hyperthyroid cats may result from the increased action of hepcidin and erythropoietin coupled with the decreased action of thyroid-stimulating hormone (TSH).

Common ECG abnormalities pose increased risks of out-of-hospital cardiac arrest

Abstract Background It is known that 40%-60% of all sudden cardiac deaths occur as the first sign of unrecognized heart disease which poses a challenge in preventing early cardiac death (1). While many common ECG abnormalities have previously been associated with an increased risk of cardiac morbidity and mortality, knowledge of what abnormalities are associated with out-of-hospital cardiac arrest (OHCA) is lacking (2,3). Purpose To investigate the association between a range of common ECG abnormalities and the risk of subsequent OHCA. Methods From 2000 to 2020, patients acquiring an ECG at a Danish hospital or in an ambulance in Denmark were followed until either having OHCA, emigrating, death from other causes or end of study (01-01-2021), whichever came first. Only the index ECG and first occurrence of OHCA for each patient were considered for analysis. Data on patient age and gender were obtained through the Danish Civil Registration System. A multivariable Cox regression, adjusted for patient gender and age at ECG acquisition, was performed to assess the risk (hazard ratio [HR] with 95% confidence interval [95% CI]) of OHCA for various common ECG abnormalities. P-values less than 0.05 were considered significant. Results In total 2,037,003 patients were included, of which 26,446 (13.0%) had OHCA during follow-up after ECG acquisition. Patient characteristics and distribution of ECG abnormalities between the OHCA and non-OHCA patients are shown in Table 1. Patients with OHCA were older and more frequently male (both p &amp;lt; 0.001). ECG abnormalities were also generally more frequent among OHCA patients than non-OHCA patients. Median follow-up time for the entire cohort was 2063 days. The results of the multivariable Cox regression are shown in Figure 1. All assessed ECG abnormalities resulted in significantly higher risk of later OHCA with HR (95% CI) ranging between 1.0521 (1.0512-1.0531) and 1.0554 (1.0544-1.0563) when also adjusting for patient age and gender. Conclusion Common ECG abnormalities were associated with a significantly increased risk of OHCA. Further research is needed to investigate the mechanisms behind specific ECG abnormalities and OHCA occurrence and to determine the validity of ECG screening in preventing OHCA.Table 1Figure 1, SL = Sokolow-Lyon

Ischemic Stroke Induced by an Electric Shock in a Patient with Ischemic Cardiomyopathy: An Unusual Association of Events

Electrocution is a well-known accident that can lead to a highly variable clinical presentation, including cardiac and neurological complications. Some studies have shown that electric shock contributes to arterial ischemia; either through vasospasm or by inducing thrombotic reactions. Here, we present a 66-year-old male patient with unrecognized cardiac disease who developed brachio-facial paresis related to ischemic stroke immediately after being electrocuted with domestic electricity.

Future directions in myelodysplastic syndromes/neoplasms and acute myeloid leukaemia classification: from blast counts to biology.

Myelodysplastic syndromes/neoplasms (MDS) and acute myeloid leukaemia (AML) are neoplastic haematopoietic cell proliferations that are diagnosed and classified based on a combination of morphological, clinical and genetic features. Specifically, the percentage of myeloblasts in the blood and bone marrow is a key feature that has historically separated MDS from AML and, together with several other morphological parameters, defines distinct disease entities within MDS. Both MDS and AML have recurrent genetic abnormalities that are increasingly influencing their definitions and subclassification. For example, in 2022, two new MDS entities were recognised based on the presence of SF3B1 mutation or bi-allelic TP53 abnormalities. Genomic information is more objective and reproducible than morphological analyses, which are subject to interobserver variability and arbitrary numeric cut-offs. Nevertheless, the integration of genomic data with traditional morphological features in myeloid neoplasm classification has proved challenging by virtue of its sheer complexity; gene expression and methylation profiling also can provide information regarding disease pathogenesis, adding to the complexity. New machine-learning technologies have the potential to effectively integrate multiple diagnostic modalities and improve on historical classification systems. Going forward, the application of machine learning and advanced statistical methods to large patient cohorts can refine future classifications by advancing unbiased and robust previously unrecognised disease subgroups. Future classifications will probably incorporate these newer technologies and higher-level analyses that emphasise genomic disease entities over traditional morphologically defined entities, thus promoting more accurate diagnosis and patient risk stratification.

Visually Asymptomatic Leaf Loss in Xylella fastidiosa-Infected Blueberry Plants.

Xylella fastidiosa (Xf), a gram-negative bacterium, is a notorious, world-wide plant pathogen with an extended latent period that presents a challenge for early disease detection and control interventions. We used thermal imaging of tissue-cultured, experimentally Xf-infected blueberry plants to identify visually pre-symptomatic leaves and compared the minimum force required to dislodge symptomatic leaves from infected plants to leaves on uninfected (control) blueberry plants. For two different blueberry cultivars and one pathogenic isolate of X. fastidiosa, we found no statistical difference between the mean downward force for leaf dislodgement, regardless of symptom category, on Xf-infected blueberry plants. That force was about 50% to 30% of the mean force to remove leaves from uninfected blueberry plants depending on the cultivar. These results indicate that visually pre-symptomatic leaves may be just as readily lost under field conditions as visually symptomatic leaves, both of which are important for early disease detection. Second, some thermally symptomatic and visually symptomatic leaves appeared to self-prune (abscise) and this may be an unrecognized early symptom of Xf-caused disease in blueberries. Last, it is possible that the self-pruning of visually asymptomatic leaves may occur in other agriculturally and culturally important plants infected by X. fastidiosa, but this remains an unrecognized early disease symptom.

Case Report: Tropical sprue, diagnostic challenges of an old but unrecognized disease

Tropical sprue (TS) is a post-infective disease of the small bowel characterized by a malabsorption syndrome affecting tropics inhabitants and visitors. Diagnosis of TS remains challenging since it can be confused with common diarrheal diseases, especially in non-endemic areas. We report a Tunisian case of latent TS. A 58-year-old male with a history of chronic watery diarrhea, was admitted to the intensive care unit for confusion which was related to a severe metabolic acidosis. Despite the neurological improvement after hydro-electrolytic resuscitation and acid-base disorders correction, the patient continued to have three to five loose stools daily. A nutritional assessment showed a malabsorption syndrome: iron, Vitamin B12and folate deficiencies; normochromic normocytic anemia and hypoalbuminemia. Gastrointestinal endoscopy showed duodenal villous atrophy and biopsy confirmed subtotal villous atrophy with increased intraepithelial lymphocytosis and a thickened hyalonalized sub-epithelial basal lamina. Celiac disease was evoked, however the patient did not improve on a gluten-free diet and the celiac serology was negative. On re-interviewing, we discovered that the patient had spent two months in India three years prior. Given the travel history, clinico-biological and histological data TS was highly considered and a good response to a five-month antibiotic course combined to nutritional supplementation supported this diagnosis. Clinico-biological, endoscopic and histological findings were overlapping between TS and other malabsorption diseases, explaining diagnosis difficulties. TS should be systematically discussed in tropics visitors presenting with chronic diarrhea. Improvement after micronutrient and vitamin deficiencies replacement combined to a prolonged antibiotic course supports the diagnosis of TS.

The epigenetic determinants for systemic juvenile idiopathic arthritis phenotyping and treatment response

BackgroundDetermining the role of epigenetics in systemic juvenile idiopathic arthritis (SJIA) provides an opportunity to explore previously unrecognized disease pathways and new therapeutic targets.AimWe aimed to identify the clinical significance of microRNAs (miRNA-26a, miRNA-223) in SJIA.Materials and methodsThis cross-sectional study was conducted on a group of children with SJIA attending to pediatric rheumatology clinic, at Mansoura University Children’s Hospital (MUCH) from December 2021 to November 2022. Patient demographics, and clinical, and laboratory data were collected with the measurement of microRNAs by quantitative real-time PCR. The Mann–Whitney, Kruskal–Wallis, and Spearman correlation tests were used for variable comparison and correlations, besides the receiver operating characteristic (ROC) curve for microRNAs disease activity and treatment non-response discrimination.ResultsForty patients were included in the study. On comparison of miRNA-26a, and miRNA-223 levels to the clinical, assessment measures, and laboratory features, miRNA-26a was statistically higher in cases with systemic manifestations versus those without. Similarly, it was higher in children who did not fulfill the Wallace criteria for inactive disease and the American College of Rheumatology (ACR) 70 criteria for treatment response. Meanwhile, miRNA-223 was not statistically different between cases regarding the studied parameters. The best cut-off value for systemic juvenile arthritis disease activity score-10 (sJADAS-10) and the ability of miRNA-26a, and miRNA-223 to discriminate disease activity and treatment non-response were determined by the (ROC) curve.ConclusionThe significant association of miRNA-26a with SJIA features points out that this molecule may be preferentially assessed in SJIA disease activity and treatment non-response discrimination.

Unrecognised COVID-19 deaths in central Europe: The importance of cause-of-death certification for the COVID-19 burden assessment.

In Central Europe, the increase in mortality during the COVID-19 pandemic exceeded the number of deaths registered due to coronavirus disease. Excess deaths reported to causes other than COVID-19 may have been due to unrecognised coronavirus disease, the interruptions in care in the overwhelmed health care facilities, or socioeconomic effects of the pandemic and lockdowns. Death certificates provide exhaustive medical information, allowing us to assess the extent of unrecognised COVID-19 deaths. Data from 187,300 death certificates with a COVID-19 mention from Austria, Bavaria (Germany), Czechia, Lithuania and Poland, 2020-2021, was used. The two step analysis uses Cause of Death Association Indicators (CDAIs) and Contributing CDAIs to identify and measure the statistical strength of associations between COVID-19 and all other medical mentions. 15,700 deaths were reported with COVID-19 only as a contributing condition (comorbidity). In three cases out of four, a typical, statistically significant coronavirus complication or pre-existing condition was registered as the underlying causes of death. In Austria, Bavaria, Czechia and Lithuania the scale of COVID-19 mortality would have been up to 18-27% higher had COVID-19 been coded as the underlying cause of death. Unrecognised coronavirus deaths were equivalent to the entire surplus of excess mortality beyond registered COVID-19 deaths in Austria and the Czech Republic, and its large proportion (25-31%) in Lithuania and Bavaria. Death certificates with typical coronavirus complications or comorbidities as the underlying causes of death and contributing COVID-19 mentions were plausibly unrecognized coronavirus deaths.

AI/ML-derived mechanistically interpretable whole-genome biomarkers of patient survival in pre-treatment primary neuroblastoma tumors and whole blood.

10043 Background: Prediction, understanding, and management, of neuroblastoma (NBL) outcomes, from spontaneous regression to relapse and death, remain limited, and rely mostly on the International Neuroblastoma Staging System (INSS) stage, age, and the one-gene test for MYCN amplification. The entire multi-ome affects every aspect of the disease. But typical artificial intelligence and machine learning (AI/ML) cannot discover effective biomarkers from real-life, small-cohort, multi-omic, and noisy data. Methods: We use our AI/ML to identify two whole-genome biomarkers from open-source pre-treatment NBL patient-matched primary tumor and whole blood DNA copy numbers, and primary tumor mRNA expression. Our data-agnostic, unsupervised algorithms extend the mathematics that underlies quantum mechanics to overcome the limitations of typical AI/ML [1,2]. Our platform- and reference genome-agnostic biomarkers in astrocytoma, including glioblastoma, and lung, ovarian, and uterine adenocarcinomas, were mathematically discovered, and computationally and experimentally validated, repeatedly, in federated, imbalanced datasets from as few as 50–100 patients [3]. Results: We discover the biomarkers in “skinny” datasets of minimally preprocessed ≈3M-bin whole-genome sequences from tumors and blood of a set of 101 patients. Blindly, i.e., label-free, we separate both biomarkers from the normal X chromosome-number variation, demonstrating sex-agnostic learning. Combined, the biomarkers are statistically independent of all standard-of-care indicators, with the univariate Cox hazard ratio of 4.0 (log-rank P-value=2.3×10–5) within the 95% confidence intervals of the bivariate ratios. The risk that the tumor’s whole genome confers upon outcome, as is reflected by the bivariate ratios, is greater than that conferred by all standard-of-care indicators, including DNA ploidy, the Children’s Oncology Group (COG) risk, and the mitosis-karyorrhexis index (MKI), except for histopathology. We validate the biomarkers in ≈10K-bin target-capture sequences of a mutually-exclusive set of 419 patients, demonstrating generalizability as well as site-, platform-, and protocol-agnostic transfer learning. At 73–80% concordance, in both the tumor and blood profiles of both the discovery and validation sets, the biomarkers combined are more accurate than MYCN. We show that the biomarkers identify known and previously unrecognized disease mechanisms and druggable gene alterations, including co-amplification of MYCN with genes encoding for extra-embryonic transcripts, as well as the hijacking of embryonic development toward aneuploidy, which can spontaneously regress via embryonic self-correction. Conclusions: Our AI/ML is uniquely suited for personalized medicine. 1. doi: 10.1063/1.5099268 2. doi: 10.1073/pnas.0530258100 3. doi: 10.1063/1.5142559.

Assessment of health care workers preparedness to epidemics: A case of Ebola virus disease preparedness in private hospitals in Kampala, Uganda.

Unrecognized Ebola Virus Disease (EVD) can lead to multiple chains of transmissions if the first caretakers are not trained and prepared. This study aimed to assess healthcare workers (HCWs) preparedness in private hospitals located in Kampala, to detect, respond and prevent EVD. A descriptive cross-sectional study was carried out among HCWs in direct clinical care provision in four private hospitals, and in one Ebola Treatment Unit (ETU) using a self-administered questionnaire from March to June 2020. 222 HCWs agreed to participate aged from 19 to 64 years and with 6 months to 38 years of practice where most were nurses (44%). 3/5 hospitals did not have written protocols on EVD case management, and only one (ETU) had an exclusive emergency team. 59% were not sure whether contact tracing was taking place. Private hospitals were not included in EVD trainings organized by the Ministry of Health (MoH). In addition, HCWs in private hospitals were not empowered by the MoH to take part in EVD case management. Despite these shortcomings, only 66% of HCWs showed an interest to be immunized. Knowledge about potential Ebola vaccines was generally poor. In Kampala, Uganda, establishment of a more comprehensive preparedness and response strategy for EVD outbreaks is imperative for HCWs in private facilities, including a wide vaccination educational program on Ebola vaccination. The findings from this study if addressed will likely improve the preparedness and management of future Ebola outbreaks in Uganda.

Mastocytosis—a frequently unrecognized disease

Mastocytosis—a frequently unrecognized disease

Causes of Death in the Presence of Law Enforcement in Johnson County, Iowa, 2011-2020.

Objectives. To examine sudden and unexpected or trauma-related deaths that occurred in the presence of law enforcement in Johnson County, Iowa, between 2011 and 2020. Methods. We identified deaths in the presence of law enforcement using definitions from the National Association of Medical Examiners. We obtained data, including demographics, cause and manner of death, toxicology results, and circumstances and location of event leading to death, from comprehensive medical examiner investigative reports. Results. There were 165 deaths that occurred in the presence of law enforcement: 114 were from a known disease, and 51 were either trauma related or the sudden, unexpected initial presentation of a previously unrecognized disease. Three deaths occurred in the context of physical restraint by law enforcement. Suicide was the leading manner of death among trauma-related deaths; the means of suicide was predictable based on in-custody (hanging) or precustody (firearm) circumstances. Conclusions. Our findings highlight the potential role of medical examiners and coroners in improving completeness of data on reporting death in the presence of law enforcement to public health agencies. (Am J Public Health. 2024;114(6):642-650. https://doi.org/10.2105/AJPH.2024.307616).

Occult liver disease: A multinational perspective

Occult liver disease refers to the presence of unrecognized chronic liver disease and cirrhosis. Liver disease is currently the eleventh cause of death globally, representing 4% of all deaths in the world. Alcohol consumption is the leading cause of cirrhosis globally, accounting for approximately 60% of cases. The estimated global prevalence of non-alcoholic fatty liver disease (NAFLD) is 32.4% and has been steadily increasing over the last years. Viral hepatitis B and C accounted for 1.3 million deaths in 2020.Several studies in populations at high risk of chronic liver disease (elevated liver enzymes, type 2 diabetes, excessive alcohol consumption) have found an elevated prevalence of occult liver disease. Attempts should be made to assess the prevalence of occult liver disease in Latin America, a region with one of the highest rates of metabolic diseases and excessive alcohol consumption.Screening for NAFLD in high-risk subjects and screening for excessive drinking and alcohol use disorders at every level of medical care is relevant. Efforts should also focus on the early treatment of occult liver disease to try to reduce liver disease burden and, in the case of occult viral hepatitis infection, prevent further spreading.

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that have characterized a large group of affected individuals both clinically and genetically. We performed whole exome sequencing (WES) in 290 males with the life-course-persistent, extremely impulsively violent form of antisocial personality disorder (APD) and analyzed the spectrum of rare protein-truncating variants (rPTVs). Comparisons were made with 314 male controls and publicly available genotype data. Functional annotation tools were used for biological interpretation. Participants were significantly more likely to harbor rPTVs in genes that are intolerant to loss-of-function variants (odds ratio [OR] 2.06; p < 0.001), specifically expressed in brain (OR 2.80; p = 0.036) and enriched for those involved in neurotransmitter transport and synaptic processes. In 60 individuals (20%), we identified rPTVs that we classified as clinically relevant based on their clinical associations, biological function and gene expression patterns. Of these, 37 individuals harbored rPTVs in 23 genes that are associated with a monogenic neurological disorder, and 23 individuals harbored rPTVs in 20 genes reportedly intolerant to loss-of-function variants. The analysis presents evidence in support of a model where presence of either one or several private, functionally relevant mutations contribute significantly to individual risk of life-course-persistent APD and reveals multiple individuals who could be affected by clinically unrecognized neuropsychiatric Mendelian disease. Thus, Mendelian diseases and increased rPTV burden may represent important factors for the development of extremely impulsive violent life-course-persistent forms of APD irrespective of their clinical presentation.

Sudden Death In Sports: Modern Concepts.

Regular physical activity provides significant health benefits and reduces the risk of premature death from any cause, including cardiovascular diseases (CVD). However, physical activity may provoke sudden cardiac death (SCD), especially in presence of unrecognized diseases. It is essential to identify risk factors that contribute to SCD in athletes and to implement effective prevention of such episodes. For this purpose, SCD registries are being created, medical terminology is being unified, and schedules of medical examination are being developed. The best strategy to combat SCD during sport activities is a combination of primary prevention by screening examination to identify athletes with CVD at risk and a proper planning of first aid measures during sports events, including the availability of an automatic external defibrillator on site.

P1178 Detection of occult liver disease in patients with Inflammatory Bowel Disease

Abstract Background Investigation of liver disease is recommended in the ECCO Guidelines for Extraintestinal Manifestations in Inflammatory Bowel Disease (IBD). The aim of this study was to analyse the prevalence of liver disease in IBD patients, to examine the frequency of different aetiologies, and to investigate a possible correlation between the severity of liver disease and IBD. Methods Cross-sectional descriptive study including all patients with inflammatory bowel disease (IBD) of nine hospitals in Spain. The study of liver disease was carried out in two phases: patients with FIB-4 greater than 1.3 (greater than 2 in those aged 65 years or more), as well as those with APRI greater than 0.5 and/or elevated transaminases were selected as those at risk of liver disease. In the second phase, these patients underwent a medical history, comprehensive blood tests, abdominal ultrasound with SWE elastography and Fibroscan® (including transitional elastography (TE) and Controlled Attenuation Parameter (CAP)). Results In total, 5302 patients were enrolled and 1640 (31%) were identified as at risk for liver disease. The University Hospital of Burgos has completed the second phase of the study in patients diagnosed with IBD between 2010 and 2021 (n=151). Of these patients, 72.2% were male and the median age was 61 years. Ulcerative colitis (57%) was the most common type of IBD and 62% of the patients were overweight or obese, while 12% of the patients had high-risk alcohol consumption. Metabolic hepatic steatosis was the most frequent cause of liver disease (35%). Moderate/severe steatosis was detected in 44.3% of patients by CAP and 24% by ultrasound. The prevalence of advanced fibrosis was 10.6% and 12% when assessed by ET and SWE, respectively. Notably, 12.6% displayed ultrasound signs of chronic liver disease. A positive correlation was found between the ET and the SWE for liver fibrosis, with a correlation coefficient of ĸ = 0.663. On univariate analysis, an increased risk of significant fibrosis (p=0.011) and moderate/severe steatosis (p=0.00) was found only in those who were overweight or obese. However, no association with severity of liver disease was found for perianal disease, use of immunosuppressants or history of previous surgery. Conclusion The incidence of unrecognised liver disease in IBD patients is substantial, with metabolic hepatic steatosis being the most common cause. The severity of liver disease in these patients cannot be ignored, with one in ten patients having advanced fibrosis. In the univariate study, only obesity was found to correlate with the severity of steatosis and fibrosis, while IBD severity showed no significant association with liver disease severity.

Pilot study on the assessment of unrecognized alcoholic liver disease in patients with metabolic dysfunction-associated steatotic liver disease using the ANI score.

This pilot study evaluates the presence of potential unrecognized steatotic liver disease with moderate alcohol consumption (MetALD) in patients diagnosed with metabolic dysfunction-associated steatotic liver disease (MASLD) using the ALD/NAFLD index (ANI) score. A retrospective single-center study was conducted on 85 patients attending Digestive Diseases consultations in May and June 2024. MASLD was defined by hepatic steatosis with limited alcohol intake (<20 g/day for women and <30 g/day for men) and at least one cardiovascular risk factor. The ANI score identified 21.2% of patients as having a potential probability of MetALD, with higher alcohol consumption (10-30 g/day) and increased liver fibrosis observed in this group, though the latter did not reach statistical significance. Even though the ANI score is not validated to distinguish MetALD from MASLD, our findings highlight its potential utility in improving diagnostic accuracy by addressing underreported alcohol consumption.

Hospital Prevalence of Sickle Cell Disease in Children Under 5 Years of Age in a Region of the Democratic Republic of Congo

Backgroung: The burden of sickle cell disease in hospitals is less described in both children and adults where there is a lack of universal screening programs. This is more observed in low-income countries and compromises the life expectancy of people with unrecognized major sickle cell disease. The objective of this study was to estimate the more or less concrete burden of sickle cell disease in pediatric hospitals, mainly in children under 5 years of age. Materials &amp; methods: To do this, a cross-sectional and descriptive survey was carried out at the level of the pediatric services of 5 health facilities of the City of Kindu, capital of the province of Maniema in the Democratic Republic of the Congo from December 2, 2019 to October 15, 2020, that to say 10 months. It consisted mainly in the systematic screening of the electrophoretic profile of children under 5 admitted to the said health facilities using a rapid test. Results: The analyzes showed that the hospital prevalence of major sickle cell disease was 12.7%. The mean age of children with major sickle cell anemia was 41 ± 18 months. The median age was 48 months with the extreme ages 2 and 59 months. The 48 to 59 months age group was represented with 56.1% of children with SS sickle cell disease. The prevalence of sickle cell status was significantly associated with age group (p &lt;0.0001). The sex ratio M/F was 1.1. The sickle cell status was independent of the sex of the child. Conclusion: The findings of this study show that the burden of sickle cell disease in pediatric hospitals and mainly in children under 5 years of age is underestimated in the absence of systematic screening. Faced with the delay in the implementation of universal screening in Africa, systematic hospital screening of all children and mainly those under 5 years of age using rapid tests will improve diagnosis and life expectancy of patients with major sickle cell anaemia.