Single-center Retrospective Study Research Articles

Clinical Characteristics and Outcomes of Dilated Cardiomyopathy in Chinese Children: A Single-Center Retrospective Study.

The reported outcomes of pediatric dilated cardiomyopathy (DCM) have varied across studies. There are few outcome data concerning DCM in Chinese children. Therefore, we conducted a retrospective study to describe clinical features and determine risk factors for poor outcomes in children with DCM. We enrolled 121 children with DCM in our hospital from 2003 to 2021. General information and laboratory and echocardiographic data were collected and analyzed. Cox regression analysis was performed to determine risk factors for poor outcomes. This study included 121 patients (69 males and 52 females). The median age at diagnosis was 10.8 years, and the follow-up time was 10.0 months. Eighty-two patients (67.8%) exhibited cardiac function classes III-IV at the time of diagnosis. Tachypnea was the most common symptom (78.5%). In echocardiography, the mean left ventricular end-diastolic dimension z score was 7.36 ± 2.73, and the left ventricular ejection fraction z score was -6.58 ± 2.17. The 1-, 2-, and 5-year survival rates were 51.2%, 43.8%, and 32.2%, respectively. Cox analysis revealed that cardiac function classes III-IV (hazard ratio [HR] = 1.801, 95% confidence interval [95% CI] = 1.030-3.149, p = 0.039) and calcium levels (HR = 0.219, 95% CI = 0.084-0.576, p = 0.002) were predictors of poor outcomes in children with DCM. Children with DCM are at high risk of death. Cardiac function class III-IV and calcium levels were related to the prognosis of pediatric DCM patients.

Prolonged oligohydramnios and the adverse composite outcome of death or severe neurodevelopmental impairment at 3 years of age in infants born at 22–29 gestational weeks

ObjectiveTo investigate the association between prolonged oligohydramnios and a composite outcome of death or severe neurodevelopmental impairment (NDI) at 3 years of age. MethodsThis single-center retrospective cohort study enrolled infants born at 22–29 weeks of gestational age without major congenital anomalies. The patients were classified into three groups depending on the existence and duration of oligohydramnios: no/non-prolonged oligohydramnios (no or 0–7 days of oligohydramnios), prolonged oligohydramnios (8–14 days), and very prolonged oligohydramnios (> 14 days). The primary outcome was a composite of death or severe NDI, which was defined as severe cerebral palsy, developmental delay, severe visual impairment, or deafness at age 3. ResultsOut of the 843 patients, 784 (93 %), 30 (3.6 %), and 29 (3.4 %) were classified into the no/non-prolonged, prolonged, and very prolonged oligohydramnios groups, respectively. After excluding patients lost to follow-up, the adverse composite outcome at 3 years of age was observed in 194/662 (29 %), 7/26 (27 %), and 8/23 (35 %) in the corresponding groups. The composite outcome showed no significant trend with the duration of oligohydramnios (P = 0.70). In a logistic regression model controlling the known predictors of gestational age, birth weight, small-for-gestational-age, male sex, multiple pregnancy, hypertensive disorders of pregnancy, antenatal corticosteroids, and the number of family–social risk factors, the duration of oligohydramnios was not independently associated with the composite outcome; odds ratio 1.3 (95 % confidence interval, 0.78–2.0). ConclusionProlonged oligohydramnios was not associated with the composite outcome of death or severe NDI at 3 years of age.

Incidence, Nature and Natural History of Additional Histological Findings in Preimplantation and Implantation Kidney Transplant Biopsies.

The quality assurance provided by preimplantation biopsy quantification of chronic damage may allow greater use of kidneys from expanded criteria donors, and thereby expand the deceased donor pool. Preimplantation biopsy may, however, identify additional acute or chronic pathologies not considered in the scoring of chronic damage, and these may influence the decision to implant or discard the kidney. This single-centre retrospective cohort study of a contemporary UK donor population systematically characterised the nature of additional findings in 1,046 preimplantation and implantation biopsies over an eight-year period. A diverse range of findings were identified in 111/1,046 (11%) organs; most frequently diabetic glomerulopathy, focal segmental glomerulosclerosis, (micro)thrombi, neutrophil casts, and immunoglobulin/complement staining. Seventy (63%) of these were transplanted, with subsequent biopsy in 41 (58%) cases confirming that 80% of the initial acute changes had spontaneously resolved, while there was no progression of diabetic glomerulopathy, and the lesions of focal segmental glomerulosclerosis were not identified. Over 75% of assessable grafts with additional histological findings at the time of transplant showed adequate function at one-year following transplant. In conclusion, most histological abnormalities that may be identified in addition to chronic scarring in preimplantation kidney biopsies would not preclude transplantation nor predict poor graft function.

Impact of Obesity on Breast Cancer Clinicopathological Characteristics in Underserved US Community Safety-Net Hospital: A Retrospective Single-Center Study

BackgroundBreast cancer continues to pose a significant public health challenge, with its incidence and disproportionate impact on underserved populations in the United States. The relationship between obesity and clinicopathological characteristics at presentation remains a critical area of investigation. Safety-net hospitals caring for underserved communities provide a unique setting to explore these associations. This study seeks to explore a critical gap in knowledge on obesity and breast cancer characteristics in underserved populations in the United States. Materials and MethodsIn this retrospective study, 927 breast cancer patients were included. Analysis was conducted to assess the association between body mass index (BMI), age of diagnosis, tumor clinicopathologic characteristics, and molecular types stratified by menopausal status at diagnosis. Analysis was performed using the Statistical Package for Social Sciences version 29. ResultsA significant association was found between BMI and menopausal status (P < .05). Disease stage at presentation was significantly associated with BMI (P < .05). Further investigation into BMI categories and tumor characteristics revealed a significant correlation in postmenopausal women, with obesity linked to tumor size and lymph node status (P < .05). No significant associations were observed between HER-2 status, ER/PR status, and obesity in either premenopausal or postmenopausal groups. ConclusionThis observational retrospective hypothesis-generating study revealed the association between obesity and disease stage and menopause status at diagnosis. In postmenopausal patients, obesity correlated with larger tumor size and advanced lymph node disease involvement. Additionally, ethnic variations were observed, with a higher prevalence of obesity among African American patients.

Letermovir use for cytomegalovirus prophylaxis following lung transplantation: A single-center review

Cytomegalovirus (CMV) remains a major cause of infection following solid organ transplant and valganciclovir prophylaxis is the standard of care. However, valganciclovir associated myelosuppression limits its tolerability and can require dose reduction in immunosuppression, particularly cell cycle inhibitors, or changes in antimicrobial prophylaxis. Letermovir, a viral terminase inhibitor, is approved by the FDA for use as CMV prophylaxis in kidney transplant recipients; data on its use in lung transplant recipients (LTRs) is limited. We performed a single-center retrospective cohort study of LTRs prescribed letermovir for prophylaxis between 1/1/18-9/1/23. Over the study period, 88 LTRs were prescribed letermovir with most (93%) switching due to myelosuppression while on valganciclovir. Of those prescribed letermovir, 67 (76%) actually started letermovir, with the primary barrier being insufficient insurance coverage or high copay cost. Among LTRs who started letermovir due to myelosuppression, 90% had improvement in their leukopenia or neutropenia, with a significant increase in white blood cell count one month after switching therapy (P<0.0001). Additionally, 46% of those who were not receiving a cell cycle inhibitor previously were able to restart this after switching to letermovir. CMV was detected in 14 LTRs following letermovir switch, with two discontinuing letermovir due to breakthrough CMV. Our findings support the use of letermovir for CMV prophylaxis in LTRs with possible benefits over valganciclovir, although a direct comparison is needed.

A novel predictive score model for successful weaning from mechanical circulatory support in patients with cardiogenic shock

Clinical evidence regarding predictors of successful weaning from mechanical circulatory support (MCS) is lacking. This study aimed to create a simple risk score to predict successful weaning from MCS in patients with cardiogenic shock. This retrospective single-center cohort study included 114 consecutive patients with cardiogenic shock treated with veno-arterial extracorporeal membrane oxygenation or IMPELLA between January 2013 and June 2023. Patients with out-of-hospital cardiac arrest were excluded. The primary endpoint was successful weaning from MCS defined as successful decannulation without the need for MCS re-implantation and survival to discharge. Multivariable logistic regression with a stepwise variable selection was performed to generate the prediction model. We first developed a general weaning score model, and then created a simple version of the score model using the same variables. Fifty-five patients were successfully weaned from MCS. The following variables measured during weaning evaluation were selected as the components of the weaning score model: acute myocardial infarction (AMI), mean blood pressure, left ventricular ejection fraction (LVEF), lactate level, and QRS duration. According to the results, we conducted a novel weaning score model to predict successful weaning from MCS: 1.774-2.090×(AMI)+0.062×[mean blood pressure (mmHg)]+0.139×[LVEF (%)]-0.322×[Lactate (mg/dl)]-0.066×[QRS (msec)]. The following variables were selected as the components of the simple version of the weaning score model: AMI, mean blood pressure ≥80 mmHg, lactate <10 mg/dL, QRS duration ≤95 msec, and LVEF >35%. We developed a simple model to predict successful weaning from MCS in patients with cardiogenic shock.

Nomograms to Appraise The Risk of Chronic Kidney Disease After Radical Cystectomy: Shifting The Focus to Prevention

IntroductionOur objectives were to analyse the incidence of changes in renal function after radical cystectomy (RC) and determine the factors responsible for those changes, as a basis for rethinking strategies to ensure early detection and development of a risk-adapted approach. Patients and methodsA single-centre retrospective study included 316 patients who underwent RC between 2010 and 2019. A competing risk Cox model, whereby death from any cause was treated as a censoring event, was used to establish nomograms to analyze the prognostic factors for CKD at 2 and 5 years. The nomograms were validated based on discrimination using the C-index, calibration plots and analysis of net benefit from decision curves. ResultsDuring a median follow-up of 48.73 months (0.13-156.67), 138 patients (43.7%) developed CKD. The probability of CKD development at 2 and 5 years was 41.3% (95% CI, 35.8-47.2) and 48.5% (95% CI, 42.8-54.6), respectively. Hypertension (HR 1.69, 95% CI, 1.23-2.34), prior hydronephrosis (HR 1.62, 95% CI, 1.17-2.25), acute kidney injury (AKI) during the immediate postoperative period (HR 1.88, 95% CI, 1.34-2.61) and readmission due to urinary tract infection (HR 1.41, 95% CI, 1.01-1.96) were predictors of 2-year CKD. Hydronephrosis at follow-up computed tomography (HR 1.54, 95% CI, 1.09-2.15), AKI during the immediate postoperative period (HR 1.77, 95% CI, 1.27-2.46) and hypertension (HR 1.60, 95% CI, 1.16-2.21) were predictors for 5-year CKD. Prior eGFR ≥ 90 mL/min/1.73 m2 was a protective factor (HR 0.50, 95% CI, 0.32-0.80 and HR 0.48, 95% CI, 0.30-0.78 for 2- and 5-year CKD, respectively). The resulting nomograms were based on these prognostic factors. ConclusionAlmost half of the patients had developed CKD at 5 years. Thus, it is crucial to identify patients at risk of developing CKD in order to initiate renal function-sparing measures and tailor follow-up protocols. The proposed nomograms effectively predicted CKD in these patients.

Use of Neutrophil-to-Lymphocyte Ratio to Predict In-Hospital Mortality in Patients Admitted with Acute Decompensation of Atrial Fibrillation.

Background/Objectives: The prevalence of atrial fibrillation (AF) has been on the rise over the last 20 years. It is considered to be the most common cardiac arrhythmia and is associated with significant morbidity and mortality. The need for in-hospital management of patients having AF is increasing. Acute decompensation of cardiac rhythm is an indication for hospital admission. In the existing literature, several studies on different pathologies have observed that the risk of death was greater for patients with an increased neutrophil-to-lymphocyte ratio (NLR) and suggested that the NLR can be a useful biomarker to predict in-hospital mortality. This study aims to evaluate the link between the neutrophil-to-lymphocyte ratio at admission and death among the patients admitted to the medical ward for the acute manifestation of AF, and to gain a better understanding of how we can predict in-hospital all-cause death based on the NLR for these patients. Methods: A single-center retrospective study in an academic medical clinic was conducted. We analyzed if the NLR at in-hospital admission can be related to in-hospital mortality among the patients admitted for AF at the Medical Ward of Municipal Emergency University Hospital Timisoara between 2015 and 2016. After identifying a total of 1111 patients, we divided them into two groups: in-hospital death patients and surviving patients. We analyzed the NLR in both groups to determine if it is related to in-hospital mortality or not. One patient was excluded because of missing data. Results: Our analysis showed that patients who died during in-hospital admission had a significantly higher NLR compared to those who survived (p < 0.0001, 95% CI (1.54 to 3.48)). The NLR was found to be an independent predictor of in-hospital death among patients with AF, even for the patients with no raised level of blood leukocytes (p < 0.0001, 95% CI (0.6174 to 3.0440)). Additionally, there was a significant correlation between the NLR and the risk of in-hospital death for patients admitted with decompensated AF (p < 0.0001), with an area under the ROC curve of 0.745. Other factors can increase the risk of death for these patients (such as the personal history of stroke, HAS-BLED score, and age). Conclusions: The NLR is a useful biomarker to predict in-hospital mortality in patients with AF and can predict the risk of death with a sensitivity of 72.8% and a specificity of 70.4%. Further studies are needed to determine the clinical utility of the NLR in risk stratification and management of patients with AF.

Temporal Pattern Analysis of Ultrasound Surveillance Data in Vascular Connective Tissue Disorders.

Ehlers-Danlos syndrome (EDS), Marfan syndrome (MFS), and Loeys-Dietz syndrome (LDS) are connective tissue disorders frequently associated with vascular aneurysm formation, dissections, and subsequent major complications. Regular imaging surveillance is recommended for these conditions. However, no guidelines currently exist regarding imaging modality or surveillance intervals. This retrospective single-center observational study analyzed clinical and imaging data of patients attending an outpatient clinic for vascular connective tissue disorders between August 2008 and January 2024. Imaging (1424 data points in total) and clinical data were extracted from electronic health records. Analysis primarily included a comparison of vessel diameter progression across imaging modalities, with an additional review of the clinical history of vascular events. In total, 19 patients with vascular connective tissue disorders (vCTDs) underwent consultations at our outpatient clinic. Nine (47.4%) patients experienced vascular events, while two (10.5%) passed away during the study period. Multimodal imaging surveillance revealed a tendency towards arterial diameter increase. Consistent ultrasound monitoring provided more reliable diameter progression data for the same arterial segment than a combination of imaging modalities. Temporal analysis indicated a tendency for the continuous growth of the abdominal aorta, the common and internal carotid artery, and the common femoral and popliteal artery. The study highlights the importance of standardized, modality-specific imaging protocols in monitoring patients with vCTDs. The variability in disease progression among these patients further complicates surveillance strategies, contemplating the need for individualized approaches. Further research and prospective multicenter studies are required to refine and improve monitoring protocols.

Epicardial adipose tissue thickness associated with preeclampsia and birth weight in early pregnancy

ABSTRACT Objective Preeclampsia (PE) increases the risk of many adverse maternal and fetal outcomes. This study was to investigate the correlation between epicardial adipose tissue (EAT) thickness and PE and birth weight. Methods This was a single-center retrospective study, 221 patients with PE were selected, and 81 women without hypertension and proteinuria were selected as a comparison. Echocardiogram was performed in their first prenatal examinations at 11–13 gestational weeks, and the thickness of EAT was measured. At the subsequent follow-up, the birth weight was recorded. Results EAT thickness was significantly elevated (6.60 ± 1.34 vs. 5.71 ± 1.79 mm, p < 0.001) in severe PE compared to mild PE. In the multivariate analysis, EAT thickness (OR 5.671, 95% CI, 1.991–16.150, p = 0.001), and C reactive protein (OR 4.097, 95% CI, 2.323–7.224, p < 0.001) were found as significant independent predictors of severe PE after adjusting for other risk factors. Linear regression analysis showed that hs-CRP, EAT thickness, and severe PE significantly negatively affected birth weight. Conclusion EAT thickness can be used to identify pregnant women with severe PE risks and low birth weight. It is an independent risk factor for severe PE but is not a valuable sign of mild PE.

Characteristics, Outcome and Prognostic Factors of Patients with Emergency Department Cardiac Arrest: A 14-Year Retrospective Study.

Introduction: Cardiac arrests are traditionally classified according to the setting in which they occur, including out-of-hospital cardiac arrest (OHCA) and in-hospital cardiac arrest (IHCA). However, cardiac arrests that occur in the emergency department (EDCA) could constitute a third category, due to the peculiar characteristics of the emergency department (ED). In recent years, the need to study EDCAs separately from other intra-hospital events has emerged. The aim of this study was to describe the characteristics and outcomes of a cohort of patients experiencing EDCA in an Italian hospital over a 14-year period. Methods: This was a single-centre retrospective observational study conducted in the ED of the Santa Croce e Carle Hospital in Cuneo, Italy. All adult patients who experienced EDCA between 1 January 2010 and 30 June 2023 were included. OHCA patients, those arriving in the ED with on-going resuscitation measures, patients with EDCA not undergoing resuscitation, and patients with post-traumatic cardiac arrest were excluded from the study. The main outcome of the study was survival at hospital discharge with a favourable neurological outcome. Results: 350 cases of EDCA were included. The median age was 78 (63-85) years, and the median Charlson Comorbidity Index score was 5 (3-6). A total of 35 patients (10%) survived to hospital discharge with a cerebral performance category (CPC) Score of 1-2; survival in the ED was 28.3%. The causes of cardiac arrests were identified in 212 cases (60.6%) and included coronary thrombosis (35%), hypoxia (22%), hypovolemia (17%), pulmonary embolism (11%), metabolic (8%), cardiac tamponade (4%), toxins (2%) and hypothermia (1%). Variables associated with survival with a favourable neurological outcome were young age, a lower Charlson Comorbidity Index, coronary thrombosis as the primary EDCA cause, and shockable presenting rhythm; however, only the latter was associated with the outcome in a multivariate age-weighted model. Conclusions: In a cohort of patients with EDCA over a period of more than a decade, the most frequent cause identified was coronary thrombosis; 10% of patients survived with a good neurological status, and the only factor associated with the best prognosis was presenting a shockable rhythm. EDCA should be considered an independent category in order to fully understand its characteristics and outcomes.

Long-Term Prevalence of Fungal Keratitis at a Swiss Tertiary Eye Clinic.

Fungal keratitis is a rare yet severe infection of the cornea. Fungal species distribution depends on the climate and socioeconomic status and can show regional variation. This retrospective single-center study was conducted at a tertiary eye care center and the collaborating Institute of Medical Microbiology in Switzerland. On investigating all fungal-positive corneal scrapings and contact lens assessments of patients with keratitis from January 2012 to December 2023, 206 patients were identified, of which 113 (54.9%) were female. The median age was 38 (IQR 29.8, [18-93]), and 154 (74.8%) applied contact lenses. The most commonly found pathogen was Candida spp., followed by Fusarium spp. Molds were 1.8 times more common than yeasts. Linear regression showed no significant increase or decrease in the infection rate over time (p = 0.5). In addition, 10 patients (4.9%) were found to have coinfections with Acanthamoeba, 11 (5.3%) with HSV-1, none with HSV-2, and 4 (1.9%) with VZV. This study provides a long-term overview of fungal-positive corneal scrapings and contact lens specimens of patients with fungal keratitis. Based on our results, coinfections with Acanthamoeba, HSV, and VZV are frequent, especially in patients wearing contact lenses. Thus, wearing contact lenses may facilitate coinfection in fungal keratitis.

Anesthésie locale comparée à l'anesthésie locorégionale dans les procédures TAVI par voie transfémorale

IntroductionTranscatheter aortic valve implantation (TAVI) has become the treatment of choice for the most fragile patients with severe aortic stenosis. The transfemoral route is preferred as the simplest and safest. The aim of our study was to compare the efficacy, tolerance and safety of local vs. locoregional anesthesia in trans-femoral TAVI procedures. Material and methodThis was a single-center retrospective study. Patients treated with femoral TAVI between February 25 and November 15, 2022 at the University Hospital of Reims were included, and two groups (local and locoregional anesthesia) were compared. ResultsTAVI success rate (92.9%), death rate (3.0%) and procedure duration (90.5 ± 13.5 minutes) did not differ between groups (p = 0.18, 0.15 and 0.55 respectively). For intra- and post-procedural treatments, the use of sedation, analgesics and benzodiazepines did not differ between groups. The cumulative dose of Remifentanil used per-procedure was lower in the local anesthesia group than in the locoregional anesthesia group (148.6 ± 71.9 mcg vs. 208.9 ± 110.0 mcg; p = 0.025). ConclusionsIn this non-randomized retrospective study, local and locoregional anesthesia had comparable safety and efficacy in transfemoral TAVI procedures. In a constrained context and with a view to simplification, these results encourage transfemoral TAVIs to be performed under local anaesthesia, and to consider a “PCI-like” approach, without the presence of an anaesthetist, for selected patients without respiratory, musculoskeletal or agitation disorders, or vascular approach difficulties.

Клинические и гистологические особенности быстропрогрессирующего гломерулонефрита у детей

Rapidly progressive glomerulonephritis (RPGN) associated with antineutrophil cytoplasmic antibodies (ANCA) is complicated in children due to the severity of the disease and the lack of clear consensus on treatment. The purpose of this research was to analyze the course of RPGN and its outcomes in children depending on the morphological basis after the results of nephrobiopsy. Materials and methods used: a single-center cohort retrospective study had been carried out as medical records’ analysis of patients diagnosed with RPGN aged 1 to 18 y/o who were observed at the Nephrology Department of the Scientific Research Institute of Pediatric Nephrology and Urology with the National Medical Research Center for Children’s Health (Moscow, Russia) in 2015-2024. Renal survival was assessed for different clinical and morphological options, the Renal Risk Score was assessed then. Results: 18 (7 m/11 f) were identified of Me age of diagnosis 14.1 [9.9; 15.5] y/o. ANCA was detected in all patients: pANCA in 12 (66.7%, 95% CI 40.9-86.7) and cANCA in 6 (33.3%, 95% CI 13.3-59.0) plus a single patient had a rare combination of dual positivity for anti-GBM and MPO-ANCA. Extrarenal manifestations were described in 10 (55.6%, 95% CI 30.8-78.5). Morphological subclassification of focal segmental glomerulosclerosis was detected in 5 (31.3%, 95% CI 11-58.7), extracapillary proliferation in 8 (50%, 95% CI 24.7-75.4), sclerosing in a single patient (6.3%, 95% CI 0.2-30.2) and the mixed one in 2 cases (12.5%, 95% CI 1.6-38.4). The median follow-up period was 21.6 [12.6-35.3] months, the outcome of stage 5 chronic kidney disease (CKD) was observed in 4, overall renal survival after 12 months was 94.4% (95% CI 84.4-100.0) and 86.6% (95% CI 70.6-100.0) after 36 months. An increase in the relative risk of achieving stage 5 CKD in patients with extrarenal (general) manifestations was detected as 1.67 times (95% CI 1.01-2.77) and 10.5 times (95% CI 1.46-75.42) in those receiving dialysis. Differences in the median glomerular filtration rate at onset were revealed in patients with extrarenal manifestations and isolated glomerulonephritis (p=0.004). Conclusion: when choosing treatment tactics for RPGN in children and assessing renal prognosis, it is necessary to take into consideration the results of a morphological study and the degree of damage to the renal tissue.

ГЕНЕТИЧЕСКАЯ ХАРАКТЕРИСТИКА Х-СЦЕПЛЕННОГО СИНДРОМА АЛЬПОРТА У ДЕТЕЙ: ДАННЫЕ ОДНОЦЕНТРОВОГО КОГОРТНОГО ИССЛЕДОВАНИЯ

X-linked Alport syndrome (XLAS) is a monogenic disease characterized by the progressive nephropathy development, sensorineural hearing loss and the lens and retina pathology. The clinical manifestations of the syndrome and the renal prognosis of patients are determined by the nature of the gene COL4A5 mutation. The range of COL4A5 genetic variants is different among populations. Information about the XLAS genetic structure in Russian pediatric cohort is insufficient. The purpose of this research was to determine the features of the spectrum of the gene COL4A5 genetic variants in children with XLAS. Materials and methods used: a single-center retrospective cohort study included children aged 2 to 17 y/o with genetically confirmed XLAS. Descriptions of variants in gene COL4A5 were performed using genome build GRCh37/hg19 in accordance with the reference sequence GRCh37/hg19 (Reference Sequence, HGVS) and the American College of Medical Genetics and Genomics (ACMG), AMP Clinical Practice Guidelines. Results: analysis of data from 174 probands from unrelated families showed that 108 (62%) children had missense variants in gene COL4A5 (62% v. 38%, missense v. non-missense variants, respectively, p=0.028), 24 (13.8%) had mutations leading to impaired RNA splicing, 17 (9.8%) had frameshift mutations, 14 (8%) had gene deletions and 10 (5.7%) had nonsense mutations. Missense variants were predominantly localized in the collagen domain compared to the non-collagen domain (n=102, 94.4%, p&lt;0.001), in exons 18 to 41 (n=94; 94.8%) and were represented by glycine substitutions (n=90, 83.3%). Two common variants were identified in the cohort: NM_033380.3(COL4A5):c.1871G&gt;A (p.Gly624Asp) in 28 (26%) and NM_033380.3(COL4A5):c.3319G&gt;A (p.Gly1107Arg) in 4 (3.7%). Conclusion: the structure of COL4A5 genetic variants in the studied cohort was comparable with the current Worldwide data, such as two thirds of the examined had missense variants and ca. one-fifth had genetic variants leading to the protein synthesis absence. Two common missense variants in gene COL4A5 were identified, including the common variant NM_033380.3(COL4A5):c.1871G&gt;A (p.Gly624Asp) that is of frequent occurrence in the European population.

Patterns, Outcomes and Economic Burden of Primary vs. Secondary Bloodstream Infections: A Single Center, Cross-Sectional Study.

Bloodstream infections (BSIs) can be primary or secondary, with significant associated morbidity and mortality. Primary bloodstream infections (BSIs) are defined as infections where no clear infection source is identified, while secondary BSIs originate from a localized infection site. This study aims to compare patterns, outcomes, and medical costs between primary and secondary BSIs and identify associated factors. Conducted at the University Hospital of Patras, Greece, from May 2016 to May 2018, this single-center retrospective cohort study included 201 patients with confirmed BSIs based on positive blood cultures. Data on patient characteristics, clinical outcomes, hospitalization costs, and laboratory parameters were analyzed using appropriate statistical methods. Primary BSIs occurred in 22.89% (46 patients), while secondary BSIs occurred in 77.11% (155 patients). Primary BSI patients were younger and predominantly nosocomial, whereas secondary BSI was mostly community-acquired. Clinical severity scores (SOFA, APACHE II, SAPS, and qPitt) were significantly higher in primary compared to secondary BSI. The median hospital stay was longer for primary BSI (21 vs. 12 days, p < 0.001). Although not statistically significant, mortality rates were higher in primary BSI (43.24% vs. 26.09%). Total care costs were significantly higher for primary BSI (EUR 4388.3 vs. EUR 2530.25, p = 0.016), driven by longer hospital stays and increased antibiotic costs. This study underscores the distinct clinical and economic challenges of primary versus secondary BSI and emphasizes the need for prompt diagnosis and tailored antimicrobial therapy. Further research should focus on developing specific management guidelines for primary BSI and exploring interventions to reduce BSI burden across healthcare settings.

Клинико-генетическая характеристика детей с подозрением на наследственные заболевания печени. Алгоритм дифференциальной диагностики

Hepatitides of unspecified etiology in children may be caused by genetic disorders. Its early detection can improve the patient management with understanding the pathogenesis, more accurately predicting the course, preventive examinations and prescribing specialized pathogenetic therapy in selected cases. However, currently there are no guidelines for the optimal diagnosis of such cases. The purpose of this research was to develop an algorithm for the differential diagnosis of hepatitides of unspecified etiology in children based on the identified clinical and genetic features of hereditary liver diseases. Materials and methods used: a single-center cohort retrospective study of 179 children with hepatitides of unspecified etiology aged 0 to 18 y/o was conducted. All patients had undergone genetic examination, based on the results of which the two groups were formed as follows: with and without genetic liver disease. Statistical analysis of the patients’ clinical, laboratory and instrumental examinations was aimed at identifying key markers for common hereditary liver diseases in different age groups as well as statistically significant differences in rare genetic reasons for hepatitis. Results: 27 different genetic liver diseases were identified in 101 (56.4%) with hepatitis of unspecified etiology. The most frequently detected diseases were Wilson's disease (41 or 40.6%), alpha-1 antitrypsin deficiency (A1AD or AATD) (9 or 8.9%) and Alagille syndrome (ALGS) (8 or 7.9%). Other hereditary pathologies occurred in isolated cases though its total incidence was nearly half of all cases (43 or 42.6%). In order to identify such cases, it is advisable to perform exome sequencing. In order to determine the indications for genetic examination, Authors have developed the mathematical model for assessing the risk of hereditary liver disease (ROC-AUC 0.787 with 95% CI: 0.696-0.877, sensitivity 69.8% with 95% CI: 57.7%-81.3%, specificity 79.2% with 95% CI: 72.3%-84.8%). Conclusion: Authors offer the suggested algorithm for differential diagnosis of hepatitides of unspecified etiology in children that includes, on the first place, the exclusion of the most common genetic liver diseases followed by exome sequencing in high-risk cases that in its turn is calculated using the developed mathematical model.

Консервативная тактика ведения врожденного и инфантильного нефротического синдрома: опыт одного центра

Treatment tactics for patients with congenital nephrotic syndrome (CNS) varies from aggressive kinds, such as early nephrectomy, to conservative ones that include diuretic and nutritional support. The purpose of this research was to assess the effectiveness of conservative treatment of children with congenital and infantile nephrotic syndromes. Materials and methods used: a single-center retrospective study of 11 pediatric patients who had been manifested with NS within their first year of life and had required diuretic therapy, was conducted. The effectiveness of conservative therapy was assessed as preservation of the renal function according to glomerular filtration and satisfactory weight/height and height alone parameters’ dynamics that ensure the safety of kidney transplantation. Results: despite the molecular genetic study was conducted in all 250 children with NS, the described 11 have had verified pathogenic variants as follows: in the NPHS1 gene in 5 (45.5%, CI 16.8-76.6%), in the NPHS2 gene in another 5 (45.5%, CI 16.8-76.6%) and a single patient with none of a kind. It was revealed that despite the persistence of pronounced NS laboratory activity, the edema gradually disappeared against the background of conservative therapy, which in its turn had made it possible to refrain from early nephrectomy as well as to begin the renal replacement therapy over the age of 3 (4) y/o. 9 (81.8%, CI 48.2-97.7%) had satisfactory weight and height parameters at the age of 3 y/o. Only a single patient had undergone the early nephrectomy at the age of 4 months old, that was then followed by a successful kidney transplant at the age of 1 year and 4 months old, which, however, did not affect the then positive height prognosis. Conclusion: thus, reasonably selected conservative therapy for CNS can be effective against edematous syndrome and contribute to satisfactory weight/height growth parameters without early nephrectomy and, accordingly, the start of dialysis during the first year of life.

Early versus Late Radiofrequency Catheter Ablation in Atrial Fibrillation: Timing Matters.

Background: Despite the progressive course of atrial fibrillation (AF), the optimal timing of radiofrequency catheter ablation (RFCA) during disease course is still unknown. We aimed to investigate the impact of early RFCA within a year after AF diagnosis on procedural outcomes. Methods: A single-center retrospective study was conducted on symptomatic AF patients (n = 130) referred for RFCA with a 16-month median follow-up. Patients were stratified based on the diagnosis-to-ablation time (DAT) into early (≤1 year) and late (>1 year) RFCA groups. Atrial arrhythmia recurrence after single RFCA was the primary outcome. Secondary outcomes included cardiovascular hospitalizations, AF progression, and antiarrhythmic drug (AAD) use. Results: Within a year of AF diagnosis, 33 patients (25.4%) underwent RFCA. In the early-RFCA group, 84.4% of patients did not have recurrent atrial arrhythmia, in contrast to 60.8% in the late-RFCA group (p = 0.039). Late RFCA (HR = 2.74, 95% CI = 1.062-7.052, p = 0.037) and AF recurrence during the blanking period (HR = 4.57, 95% CI = 2.38-8.57, p < 0.0001) were independent predictors of atrial arrhythmia recurrence on multivariate analysis. Compared to the late-RFCA group, the early-RFCA group had significantly lower rates of cardiovascular hospitalizations (18% vs. 42%, p = 0.023), AF progression (0.0% vs. 11.3%, p = 0.044), and AAD use (45.4% vs. 81.4%, p < 0.001). Conclusions: Early RFCA within a year of AF diagnosis is associated with less atrial arrhythmia recurrence, fewer cardiovascular hospitalizations, less AF progression, and less AAD use. DAT of more than one year and AF recurrence during the blanking period are independent predictors of atrial arrhythmia recurrence after single RFCA.

Fate assessment of the ectatic common iliac artery using flared limb during endovascular aneurysm repair.

This study aimed to evaluate the outcomes and anatomical predictors of the complications of flared limb (FL) use for ectatic common iliac arteries accompanied by abdominal aortic aneurysm treated with endovascular aneurysm repair (EVAR). In this single-center retrospective study, we reviewed data from 391 patients (638 limbs) treated between 2005 and 2020. The cohort was divided into two groups. The standard limbs (SLs, n = 403) included stent graft (SG) of <20mm in diameter and the FLs (n = 235) included stent graft of ≥20mm in diameter. Complications within 30days were investigated as the short-term outcome. Limb events during follow-up including type Ib endoleak (EL), type IIIa EL, and limb occlusion were compared between SLs and FLs using log-rank test. Early results indicated that the FL group had a significantly higher incidence of intraoperative type Ib EL at 5.1% (12), than 1.7% (7) in the SLs (p = .016). For 19 patients in whom intraoperative type Ib EL was discovered, SG extension alone or internal iliac artery embolization was all performed before completing the procedure. Overall, we noted one case of type Ib EL and two cases of limb events in each group at 30 days. Over a median follow-up of 39months, 31 (4.9%) events (17 type Ib EL, 2 type IIIa EL, and 12 limb events), 13 (5.5%) in FLs and 18 (4.5%) in SLs (p = .984), were observed. The FLs had significantly higher rates of aortic sac enlargement, with 46 (19.6%) cases for FLs and 36 (8.9%) for SLs (p < .001). The Kaplan-Meier analysis revealed significant differences at 5years in SLs versus FLs for freedom from type Ib EL (96.6% vs 82.4%, respectively; p < .001) and no difference in freedom from limb events (94.7% vs 84.5%, respectively; p = .519). Furthermore, no difference was observed for overall survival and aneurysm-related mortality. Although an FL for EVAR is used to treat dilated iliac arteries, there is an increased risk of intraoperative and late type Ib EL and aortic sac enlargement. Long-term close follow-up is mandatory, especially in the patients who undergo EVAR using FLs.