Clinical Profile Research Articles

To study the socio-demographic profile and clinical profile of abnormal uterine bleeding cases attending new civil hospital, Surat, Western India

There are so many concerns and worries about menstruation. With the use of advance method of contraception, women are experiencing more menstrual related problems. Now a days, menstrual related complaints are more common in gynaec clinic. So, we had conducted this study to document the sociodemographic and clinical profile among the attendees of gynaec clinic with menstrual related problem. Observational cross-sectional study carried out in western part of India with 100 patients after their written informed consent. Data were collected on pre-designed semi structured questionnaire which consist of sociodemographic and clinical questions. All data were entered in MS excel spreadsheet and analyzed with the help of SPSS V.20. Current study reported 8% of new Gynaec attendees had problem of abnormal uterine bleeding. Majority of patients were belonging to age group 21 years to 40 years (83%) and most of the patients were multipara (75%). Commonest complains among patients were menorrhagia (80%). Most of the patients were reported haemoglobin of less than 12 mg/dl.: Abnormal uterine bleeding is a distressing problem for women in their reproductive age groups especially in 21 years to 40 years.

A prospective study on the causes of hyperbilirubinemia and its clinical markers in term and near-term newborns admitted to a tertiary care hospital in Patna, India

This study aimed to investigate the root causes, prognostic factors, and therapeutic strategies for neonatal hyperbilirubinemia among term and near-term infants admitted to the Neonatal Intensive Care Unit (NICU) at IGIMS, Patna. Furthermore, the research aimed to analyze the clinical progression of these infants throughout their NICU stay.Conducted within the NICU at IGIMS, Patna, Bihar, this study encompassed term and late preterm infants admitted with serum bilirubin levels exceeding 12 mg/dl. The primary focus was on identifying risk factors, etiological factors, and the clinical profile of these infants during their NICU tenure.The study examined birth weight distribution and concurrent medical conditions. Parameters included the initiation of phototherapy based on bilirubin levels and treatment methodologies. Out of the 210 infants studied, 27.14% and 47.62% weighed between 2001 and 2500 grams. The most prevalent causes were physiological (129 cases), fetal prematurity (30 cases), birth asphyxia (7 cases), and prolonged labor (18 cases). Idiopathic causes were observed in 28 instances, ABO incompatibility in 7 cases, and Rh incompatibility in 7 cases. G6PD deficiency was identified once. At the commencement of phototherapy, 19.52% had bilirubin levels between 12 and 15 mg/dl, 58.57% between 15.1 and 18 mg/dl, 11.91% above 20 mg/dl, and 10% between 18.1 and 20 mg/dl.Physiological causes emerged as the most frequent contributors to neonatal hyperbilirubinemia, followed by septicemia and idiopathic factors. Infrequent causes included blood group incompatibility. Phototherapy was established as a cost-effective and efficient method for reducing bilirubin levels in neonatal jaundice. Exchange transfusion proved to be a safe therapeutic measure in cases of severe hyperbilirubinemia. Blood group incompatibility was the main determinant requiring exchange transfusion.

Location-based clinical and angiographic profile of brain arteriovenous malformations - a single-center observational study.

The location of brain arteriovenous malformations (bAVM) is one of the most relevant prognostic factors included in surgical, endovascular and radiosurgical scores. However, their characteristics according to location are seldom described. The goal of this study was to describe the clinical and angiographic characteristics of bAVM classified according to their location. This retrospective observational study included patients diagnosed with bAVM and attending a national referral hospital during the period 2010-2020. Data regarding clinical and angiographic variables were extracted, including characteristics on nidus, arterial afferents, venous drainage and associated aneurysms. BAVM were classified in 8 groups according to their location: frontal, temporal, parieto-occipital, periventricular, deep, cerebellar, brainstem and mixed. Data distribution for each group was determined and between-group differences were assessed. A total of 269 bAVM (in 258 patients) were included. The most frequent location was parieto-occipital; and the least frequent, brainstem. Statistically significant differences were observed between groups for most studied variables, including: clinical presentation, functional status at admission; nidus size and density, classification according to the Spetzler-Martin, Buffalo and modified Pollock-Flickinger scales; number, diameter, origin and type of afferents; number, diameter, type and direction of venous drainage, retrograde venous flow; and presence and size of flow-related aneurysms. The clinical and angiographic differences observed between brain AVM groups allow the formulation of profiles according to their location.

Using machine learning to discover traumatic brain injury patient phenotypes: national concussion surveillance system Pilot

ABSTRACT Objective The objective is to determine whether unsupervised machine learning identifies traumatic brain injury (TBI) phenotypes with unique clinical profiles. Methods Pilot self-reported survey data of over 10,000 adults were collected from the Centers for Disease Control and Prevention (CDC)’s National Concussion Surveillance System (NCSS). Respondents who self-reported a head injury in the past 12 months (n = 1,364) were retained and queried for injury, outcome, and clinical characteristics. An unsupervised machine learning algorithm, partitioning around medoids (PAM), that employed Gower’s dissimilarity matrix, was used to conduct a cluster analysis. Results PAM grouped respondents into five TBI clusters (phenotypes A-E). Phenotype C represented more clinically severe TBIs with a higher prevalence of symptoms and association with worse outcomes. When compared to individuals in Phenotype A, a group with few TBI-related symptoms, individuals in Phenotype C were more likely to undergo medical evaluation (odds ratio [OR] = 9.8, 95% confidence interval[CI] = 5.8–16.6), have symptoms that were not currently resolved or resolved in 8+ days (OR = 10.6, 95%CI = 6.2–18.1), and more likely to report at least moderate impact on social (OR = 54.7, 95%CI = 22.4–133.4) and work (OR = 25.4, 95%CI = 11.2–57.2) functioning. Conclusion Machine learning can be used to classify patients into unique TBI phenotypes. Further research might examine the utility of such classifications in supporting clinical diagnosis and patient recovery for this complex health condition.

Clinical profile of adult and pediatric patients with hepatic Wilson's disease.

The clinical profile varies in patients with Wilson's disease (WD). There is paucity of data regarding adult and pediatric patients with hepatic WD. As many as 140 consecutive patients diagnosed with hepatic WD between December 2006andJanuary 2021 were included in the study. Data was collected regarding the demographic parameters, clinical presentation, extrahepatic organ involvement, liver histology and laboratory investigations. Adult and children (0-14years) with hepatic WD were compared regarding thesefeatures. Eighty-eight adults and 52 children were included in the study. The median age of presentation was 17 years (range: 1.1-42years). Male preponderance was seen (adult 68/88, 69%; children 40/52, 77%). Adults as compared to children presented more commonly as cirrhosis (52/88 vs. 15/52, p = 0.0005) and with hepatic decompensation (35/88 vs. 9/52, p = 0.005). Presentation with acute-on-chronic liver failure (ACLF) was more common in children (10/52 vs. 2/88, p = 0.0005). Twenty-eight-day mortality was 50% (5/10) in children and none in adults presenting with ACLF. Nazer's Prognostic Index (≥ 7) and New Wilson Index were more accurate in predicting mortality among children with ACLF with AUROC 1, while AARC (APASL ACLF Research Consortium) was less accurate with AUROC 0.45. Liver histology findings were similar in adults and children. Extrahepatic involvement was also similar. (8/88 in adults vs. 3/52 children, p value 0.48). Most patients with WD present as cirrhosis in adulthood. ACLF is more common in children. Nazer's prognostic index and new Wilson Index score are accurate in predicting mortality in children with ACLF.

Incidence of Various Types of Bleeding Disorders Associated with Canine Vector Borne Diseases in Chennai, Tamil Nadu, India

Background: Animals with various stages of bleeding tendencies are often presented with obvious blood loss and life threatening complications, although some animals are relatively stable, showing only minimal clinical signs. Canine vector-borne diseases and associated bleeding disorders are commonly encountered in routine practice with high morbidity and mortality. Diagnosis, therapeutic outcome and management of bleeding disorders have always been challenging. The objective is to study the incidence of various types of bleeding disorders with their clinical features in CVBD in the city of Chennai, Tamil Nadu. Methods: During the study period (2018-2020) a total of 76, 051 dogs were presented to the Madras Veterinary College Teaching Hospital, Chennai. Sixteen thousand five hundred and twenty nine (16529) dogs were presented with signs of bleeding disorders. Dogs affected with vector borne diseases had various stages of bleeding tendencies (1593 dogs) were subjected to detailed clinical, haematological, biochemical and coagulation profile assessments. Under each etiological group, the dogs were further divided into three groups based on various stages bleeding disorders in order to evaluate the clinicopathological changes in dogs. Result: The observed incidence of bleeding disorders due to canine vector borne diseases in this study were Babesiosis 41.87 per cent, Ehrlichiosis 52.7 per cent and hepatozoonosis 5.5 per cent. The incidence of Ehrlichiosis, Babesiosis and H. canis in the study population was found to be 5.2 per cent, 4.04 per cent and 0.53 per cent. Dogs due to E. canis, 51 per cent had anaemia and thrombocytopenia, 26.1 per cent had pancytopenia and 22.9 per cent had pancytopenia and DIC. Dogs due to B. gibsoni, 47.7 per cent had anaemia and thrombocytopenia, 28.5 per cent had pancytopenia and 23.8 per cent had pancytopenia and DIC.

Clinical and laboratory profiles of systemic lupus erythematosus patients in a new rheumatology clinic in southwestern Nigeria

IntroductionThe aims were to study the sociodemographic characteristics of patients presenting to the clinic and to study the clinical and serological pattern of systemic lupus erythematosus (SLE) in a new rheumatology clinic of a predominantly Yoruba population.Material and methodsThis was a retrospective, cross-sectional study conducted over 7 years (January 2017 – December 2023). Patients who satisfied the 1997 American College of Rheumatology (ACR) and/or the 2012 Systemic Lupus International Collaborating Clinics (SLICC) classification criteria were enrolled using their medical records. Patients with overlap syndromes and other inflammatory or noninflammatory rheumatic diseases were excluded from the study. Their sociodemographic, clinical, laboratory, and treatment data were retrieved from their medical records and analysed using IBM SPSS version 23.0 software.ResultsA total of 65 patients were diagnosed with SLE with a frequency of 15.8%. The mean age ±SD of the patients at presentation was 33.85 years ±11.01 and the female to male ratio was 9.8 : 1. The median (IQR) duration of symptoms at presentation was 7.0 months (3–24). The common clinical presentations included synovitis (86.2%), acute cutaneous rash (53.8%), oral ulcers (52.3%), nonscarring alopecia (50.8%), and serositis (47.7%). Proteinuria was seen in 37.7% of the patients and the predominant renal histopathological feature was Class IV. Antinuclear antibody was 100% positive with 50.94% of the patients having a titre of 1 : 5,120 and above. Anti- double-stranded deoxyribonucleic acid and anti-Smith antibodies each had 50% prevalence. Dyslipidaemia was found in 76.7% of the patients.ConclusionsThe study’s findings are largely consistent with similar studies done in Africa. Further prospective multi-centred studies are needed to further determine the epidemiological characteristics of the disease in Nigeria with a multi-ethnic population.

Dependency and frailty in the older haemodialysis patient

BackgroundFrailty among older adults undergoing hemodialysis is increasingly prevalent, significantly impacting cognitive function, mobility, and social engagement. This study focuses on the clinical profiles of very older adults in hemodialysis, particularly examining the interplay of dependency and frailty, and their influence on dialysis regimens.MethodsIn this observational, descriptive study, 107 patients aged over 75 from four outpatient centers and one hospital unit were examined over a year. Patient data encompassed sociodemographic factors, dialysis specifics, analytical outcomes, lifestyle elements, and self-reported post-treatment fatigue. Malnutrition-inflammation scale was used to measure the Nutritional status; MIS scale for malnutrition-inflammation, Barthel index for dependency, Charlson comorbidity index; FRIED scale for frailty and the SF12 quality of life measure.ResultsThe study unveiled that a substantial number of older adults on hemodialysis faced malnutrition (55%), dependency (21%), frailty (46%), and diminished quality of life (57%). Patients with dependency were distinctively marked by higher comorbidity, severe malnutrition, enhanced frailty, nursing home residency, dependency on ambulance transportation, and significantly limited mobility, with 77% unable to walk. Notably, 56% of participants experienced considerable post-dialysis fatigue, correlating with higher comorbidity, increased dependency, and poorer quality of life. Despite varying clinical conditions, dialysis patterns were consistent across the patient cohort.ConclusionsThe older adult cohort, averaging over four years on hemodialysis, exhibited high rates of comorbidity, frailty, and dependency, necessitating substantial support in transport and living arrangements. A third of these patients lacked residual urine output, yet their dialysis regimen mirrored those with preserved output. The study underscores the imperative for tailored therapeutic strategies to mitigate dependency, preserve residual renal function, and alleviate post-dialysis fatigue, ultimately enhancing the physical quality of life for these patients.

Use of Tirzepatide in Adults with Type 2 Diabetes Mellitus: Scientific Evidence and Practical Aspects.

Tirzepatide is a novel antidiabetic medication a single-molecule, agonist to the glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptors. It is approved in the USA and EU for the treatment of type 2 diabetes mellitus (T2DM) and obesity. Due to the potential novelty represented by incorporating tirzepatide to clinical practice, we aim to review practical aspects of tirzepatide use in T2DM and the supporting scientific evidence. A group of ten endocrinologists involved as investigators in the phase 3 SURPASS clinical trial program followed a nominal group technique, a qualitative research methodology designed as a semi-structured group discussion to reach a consensus on the selection of a set of practical aspects. The scientific evidence for tirzepatide has been reviewed with respect to a number of patients' clinical profiles and care goals. Information of interest related to adverse events, special warnings and precautions, and other considerations for tirzepatide use has been included. Finally, information provided to the patients has been summarized. The practical aspects reported herein may be helpful in guiding physicians in the use of tirzepatide and contribute to optimizing the management of T2DM.

Gender-based differences in clinical profile, management and mortality in cardiogenic shock. Prognostic accuracy of CardShock vs IABP Score, the Shock-CAT study

Abstract Funding Acknowledgements None. Background Mortality in cardiogenic shock (CS) remains very high. Gender could influence in aetiology, management, outcomes and risk stratification predictors. Purpose The aim is to analyse differences in clinical profile, management, in-hospital prognosis and mortality risk in CS patients depending on sex and compare the prognostic accuracy of CardShock and IABP scores between sexes in a Mediterranean cohort. Method Shock-CAT study was a multicentre, prospective, observational study conducted between December 2018 and December 2019 in eight public University hospitals in Spain, including CS patients of different aetiologies. Data on clinical presentation, biomarkers, management, including mechanical cardiac/circulatory support (MCS) were analysed comparing women and men. Cardshock and IABP score have been compared to assess 90-days mortality risk between sexes. Results A total of 382 CS patients (p) were included: women 24.9% (n=95 p) and men 75.1% (n=287p). Women were older than men (68.9 vs 64.1 years, P=0.004). CS due to acute coronary syndrome (ACS) was more frequent in men (66.6% vs 43.2%), and myocarditis (1.7 vs 6.3%), stress cardiomyopathy (0.3% vs 8.4%) and severe aortic stenosis (2.4% vs 6.3%) were more prevalent in women, all p<0.001. Cardiac arrest was more prevalent in men than women (38.4% vs 25.3%, p=0.020). MCS was implanted in 35.3% of patients, without gender differences (men 36.6%, women 31.6%, p=0.376). Even though there was a non-significant trend to lower use in women of IABP (31.1% vs 26.5%), Impella (13.5% vs 7.4%) or ECMO (10.4% vs 7.4%). Risk scores were similar between sexes: Cardshock (men:4.32 vs 4.40 women, p=0.674) and IABP score (men: 2.31 vs 2.04 women, p=0.190). There were no differences between men and women in in-hospital mortality (32.4% vs 34.7%, p=0.675) or 6-months mortality (41.5% vs 40%, p=0.989). Receiver-operating characteristic curves demonstrated that IABP shock score had superior prognostic power for predicting 90-days mortality when compared with Cardshock score in men (area under the curve -AUC- 0.72 vs 0.64) respectively, p=0.009, although both scores were similar in women (AUC 0.70 vs 0.72, p=0.635), Figures 1-2. Conclusions Women with CS were older than men and had less ACS and cardiac arrest at admission. There is a non-significant lower use of mechanical assistance devices in women, although in-hospital or 6-months mortality were similar in both sexes. IABP score provided better 90-days mortality risk prediction than CardShock score in men, but both scores were similar in women with cardiogenic shock.Men ROC Curves 90-days MortalityWomen ROC Curves 90-days Mortality

Comparing clinical profiles, in-hospital complications and one-year cerebrovascular events in typical and midventricular TTS-results from a retrospective study between two third-level centers

Abstract Funding Acknowledgements None. Background Apical ballooning is considered the typical form of Takotsubo syndrome (TTS) and occurs in about 75-80% of cases. Midventricular (MV) is the most frequent atypical variant and represents about 15% of TTS. Clinical and analytical characteristics, early complications and the risk of cerebrovascular events (CVEs) between these two specific groups are poorly studied. Purpose of the study To investigate the clinical profile, laboratory variables, in-hospital complications and one-year CVEs between typical and MV variants of TTS. Methods we retrospectively examined the patients admitted to two third-level hospitals with a diagnosis of TTS. A total of 248 TTS met InterTAK diagnostic criteria. Clinical features, myocardial enzymes, echocardiographic variables, early complications and one-year CVEs were assessed. Results Of 248 patients diagnosed with TTS, a total of 205 (83%) patients presented with typical and 43 (17%) with MV variant of TTS. Patients with MV form were younger (age mean ± SD 68 ± 12 vs 74 ± 11 years, p value = 0.002) and had a lower incidence of hypertension (46% vs 73%; p value < 0.001) than those with apical variant. On admission, patients with MV form presented a lower degree of left ventricular dysfunction (EF mean ± SD, 44 ± 9% vs 41 ± 9%, p value = 0.018) and a tendence not to present left ventricular outflow tract obstruction (LVOTO) (0 vs 9%, p value = 0.049). Lower N-terminal pro-brain natriuretic peptide (NT-proBNP) levels on admission (median [IQR], 881 [99 – 3049] pg/mL vs 3466 [677 - 9067] pg/mL, p value <0.001) and at peak (3150 [947- 4437] pg/mL vs 4622 [1886 - 13163] pg/mL, p value = 0.005) were observed in MV group compared to the typical form. In-hospital cardiovascular (CV) complications were frequently observed (46% in the overall population) and appeared to be more frequent in the typical variant (51% vs 33%, p value= 0.035); in particular, we reported a higher prevalence of AF (16% vs 2%, p value = 0.022). The number of CS and VT cases is remarkable in both the subgroups (13% vs 7%; 5% vs 2%), with a higher prevalence in the typical form, even if not reaching a statistically significant difference between the two groups (p= 0.437; p= 0.695). No significant differences were observed in LV thrombosis, and in on admission and one-year CVEs between the two groups, although with a higher prevalence in the typical variant (respectively 3 vs 0, 10 vs 1 and 5 vs 0). Conclusions MV TTS presents some differences in clinical characteristics, analytical values and echocardiographic parameters compared to the typical variant. In-hospital CV complications are remarkable, and more frequently observed in typical variant, although not reaching a statistically significant difference in CS and VT. Similarly, more CVE were observed in the typical TTS group, although in the absence of a statistical significance. The importance of close monitoring in the acute phase is confirmed for both variants under study.

Socio-Demographic and Clinical Profile of Patients Attending Geriatric Clinic Over Five Years: A Retrospective, Hospital Based Study

Background: Population ageing is an inescapable and irreversible phenomenon, increasing the burden on the health care system. Mental illnesses in the geriatric population are unique and identification of the same amidst the co-morbidities is a challenging task. Objectives: To assess the difference in the clinical and sociodemographic profile of patients attending Geriatric Clinic in a tertiary care centre over five years. Materials and Methods: A retrospective chart review of patients, who attended the Geriatric Clinic of a tertiary care centre in 2012 and 2016 was conducted. The psychiatric diagnoses were made according to the ICD-10 diagnostic guidelines. Sociodemographic variables and clinical variables including social support were assessed. Data were analysed by Statistical Package for Social Science (SPSS) 16 version and Microsoft Excel Version 2007. Results: The total number of patients attending Geriatric clinics were 31 and 147 in 2012 and 2016 respectively. The mean age of patients attending the geriatric clinic was 74.32±7.89 in 2012 and 71.88±6.76 in 2012. The difference between the study group was statistically significant with regard to religion, marital status, socio-economic status and location of residence.64.52% of the study population had average social support in 2012 and a statistically significant decline was noticed in 2016.The most common psychiatric diagnoses were organic mental disorders (93.55%) in 2012 and mood disorders (40.82%) in 2016. Cardiovascular diseases were most common medical co-morbidity seen among the geriatric patients in both the years. Conclusions: Psychiatric illness in geriatric population is often associated with medical co-morbidities. With the increase in longevity, awareness and identification of symptoms can decrease significant morbidity and improve the quality of life. Keywords: Ageing, psychiatric disorders, medical comorbidity

Prognostic utility of point-of-care measured bioadrenomedullin in patients presenting with acute heart failure at the emergency department

Abstract Funding Acknowledgements None. Background Acute heart failure (AHF) is a severe condition that is frequently encountered in the emergency department (ED). We aimed to investigate the role of bioadrenomedullin (bio-ADM)- a molecule previously shown to be associated with clinical congestion- as an early prognostic marker for short-term outcomes in patients presenting with AHF in the ED. Methods Seventy-six AHF patients were prospectively enrolled upon ED presentation. Clinical, echocardiography, standard laboratory and cardiac biomarker assessments were performed. Bio-ADM was measured from whole blood sample using a commercially available point-of-care immunoassay. We examined prognostic utility of bio-ADM for predicting 30-day mortality. Results Study group consisted of 61% males, of mean(±SD) age 71±13years, systolic blood pressure (SBP) 140±41mmHg, categorized according to AHF clinical phenotypes as 15(20%) pulmonary edema, 53(70%) decompensated chronic HF and 8(10%) cardiogenic shock. Median (IQR) creatinine, NTproBNP, hsTroponinT and bio-ADM were: 1.15(0.90-1.83)mg/dl, 5094(2836-12816)pg/ml, 38(24-91)pg/ml and 52.3(45-113)pg/ml, respectively. Levels of bio-ADM were higher in patients with cardiogenic shock compared to acute pulmonary edema and decompensated chronic HF [median (IQR): 266.8(101.9-500)pg/ml, 49.8(45-67.5)pg/ml and 47.4(45-97.5)pg/ml, respectively], (p=0.019). Log(bio-ADM) was significantly correlated with SBP (Spearman rho= -0.387, p=0.003), logCreatinine (rho=0.430, p<0.001), log(NTproBNP) (rho=0.430, p=0.003) and log(hsTroponinT) (rho= 0.386, p=0.003). During 30-days follow-up, 15 patients died. In ROC analysis, a bio-ADM cutoff of 64.8pg/ml predicted 30-day mortality with 75% sensitivity and 65% specificity (AUC 0.763, p=0.017). In a multivariable Cox proportional hazards model that included log(bio-ADM), log(NTproBNP) and logCreatinine and adjusted for AHF phenotype, only log(bio-ADM) seemed to be independently prognostic of 30-day mortality (HR,95%CI: 5.80, 0.97-34.66, p=0.054). Conclusions In a broad AHF population, point-of-care bio-ADM measured upon presentation at the ED is associated with worse clinical and biochemical AHF profiles and may provide independent prognostic information for 30-day mortality.30-day mortality by bio-ADM ≥ vs <64.8

Genome-wide DNA methylation analysis in blood identifies differentially methylated regions related to polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is considered a multifactorial disorder caused due to predisposing alleles of various genes and environmental factors which include lifestyle, dietary habits, and exposure to toxicants. Recently the emphasis has shifted to understanding epigenetic alterations due to the poor correlation between genotypes and the clinical profile of women with PCOS. Investigators have been focusing on differential methylation signatures associated with PCOS, therefore, a pilot study was carried out to investigate PCOS-associated differential DNA methylation regions in the population of north India. A cross-sectional study with sixteen participants comprising eight women with PCOS diagnosed under the Rotterdam criterion and eight age and BMI-matched healthy controls. Subjects were classified into four groups based on BMI and two different groups were compared each time making four comparison types in total. Genome-wide DNA methylation in whole blood was evaluated using an Infinium Human Methylation 850k array which identified PCOS-associated differential sites and differential methylation regions (DMRs) with promoter region, and CpG islands considering (p ≤ 0.01) as statistically significant. Multiple significantly associated hypomethylated and hypermethylated loci of genes were identified. Thirty-four hypomethylated and one hundred twenty-six hypermethylated sites of genes were suggested when all the subjects were of low BMI. But when the groups comprised with high BMI, twenty-seven hypomethylated genes and fifty-nine hypermethylated genes were identified. In silico analysis suggests that most of these genes are involved in estrogen biosynthesis, lipid biosynthetic process, and activation of matrix metalloproteinases (MMP). Seven genes that are found common in both of these comparisons are mostly involved in the inflammasome pathway indicated by BioPlanet and Reactome databases. The study provides information about DMRs in the blood tissue which may be investigated further to understand underlying pathogenesis and as therapeutic targets in the future.

Pediatric Takotsubo cardiomyopathy: a review and insights from a national multicentric registry

Abstract Funding Acknowledgements None. Background Takotsubo syndrome (TTS) in the pediatric population is an infrequent but relevant cause of morbidity and mortality, with limited studies addressing its clinical course and prognosis. Objectives We aimed to analyze the clinical features and prognosis of pediatric TTS in a nation-wide multicenter registry and considering the published literature. Methods we included a total of 54 patients from 4 different hospitals in Spain, as well as pediatric TTS patients from the published literature. Comparisons between groups were performed in order to assess for statistically and clinically relevant prognostic differences between pediatric and adult population features. Results Comparison between the RETAKO general population is detailed in Table 1. Pediatric patients with TTS had a median age of 11 years (IQR = 4-14). When compared to the RETAKO general population, they were more often male (51.9% vs 23.3%, p<0.001), and displayed a higher prevalence of secondary forms (90.7% vs 35.6% in adults, p<0.001). Regarding race, 11 cases (20.4%) were from Asia and 42 (77.8%) were Caucasian; whereas in RETAKO 1420 (94.9%) were Caucasians, with under 5 cases (<0.1%) being Asian. Pediatric patients presented less commonly with angina (11.1% vs 64.1%, p<0.001) or dyspnea (30% vs 41.7%, p<0.001), compared to the general RETAKO cohort. Nevertheless, pediatric patients with TTS exhibited a higher Killip status on admission (Killip IV 74.1% vs 10.5%, p<0.001), and higher needs of vasoactive and mechanical ventilatory support during hospitalization. Regarding complementary exams, pediatric patients presented with lower LVEF on admission (30.5+10.4 vs 36.9+16.9, p = 0.014) together with greater prevalence of atypical (basal or midventricular) TTS patterns on echocardiography (30.2% vs 15.8%, p = 0.006). Additionally, there were significantly less ST-segment alterations in the pediatric population (either ST-segment elevation or depression), without differences on T wave inversion in the admission ECG. During follow-up, all-cause deaths (11.1% vs 12,5%, p = 0.761) and TTS recurrences (3.8% vs 3,8%, p = 0.863) were similar between groups. Conclusions TTS in the pediatric population presents a distinctive clinical profile, with higher prevalence of atypical symptoms and physical triggers; as well as higher rates of cardiogenic shock on admission and similar mortality and recurrence rates than those of the adult population. This study provides valuable insights into understanding pediatric TTS and underscored the necessity for further research in this age group.Table 1

Serial invasive hemodynamics and clinical characteristics of patients with shock with and without invasive mechanical ventilation

Abstract Funding Acknowledgements None. Background Invasive mechanical ventilation (IMV) is commonly used in the Cardiac Intensive Care Unit (CICU) in patients with cardiogenic shock (CS). IMV causes hemodynamic changes that may impact outcomes based upon a patient’s profile. Our aim is to characterize the clinical profile and detailed serial hemodynamic parameters in the first 24-hours according to the use of IMV in patients with shock admitted to the CICU. Methods Retrospective analysis of consecutive patients with shock admitted to the CICU at Bellevue Hospital, undergoing pulmonary artery catheter (PAC) placement within the first 24 hours of admission, from February 2022 to June 2023. Clinical characteristics, as well as specific hemodynamic parameters collected and curated at times 0, 6, 12, 18 and 24 hours were from PAC placement compared between patients with and without IMV. Results A total of 101 patients were included (95% with cardiogenic shock), 59 receiving IMV (age 64 ± 15, 24% women) and 42 non-intubated (61 ± 13, 33% women). Non-intubated patients had higher prevalence of hypertension, prior coronary artery disease and heart failure with reduced ejection fraction (HFrEF), while acute coronary syndromes (44%) and cardiac arrest (12%) were more common causes of admission in patients undergoing IMV. Mixed shock predominated in IMV patients (51 vs 17%, p <0.001), whereas cardiogenic shock (CS) was more common in non-intubated patients (83 vs 41%, p <0.01). Patients with acute myocardial infarction CS (AMI-CS) were more likely to undergo IMV, while patients with heart failure CS (HF-CS) were more likely to be non-intubated. Patients undergoing IMV were more likely to have mechanical circulatory support (MCS) and ventricular dilatation compared to non-intubated patients (LVEDD 5.7 cm vs 4.9 cm, p 0.002). Patients undergoing IMV had a higher incidence of severe shock compared to the non-intubated group (31% vs 19% SCAI Shock D), higher lactate levels and greater use of vasoactive drugs (figure 1A). Patients undergoing IMV had significant improvements in cardiac power output (CPO), diastolic blood pressure and systemic vascular resistance (SVR) (figure 1B). Shock severity by SCAI SHOCK classification had a more notable improvement at 24 hours in patients with IMV compared to non-intubated patients (figure 1C), with a non-statistically significant improvement in lactate clearance in the first 24 hours (Figure 1D). Conclusions IMV in patients with CS is more commonly seen in patients with AMI-CS and among those with higher baseline shock severity and greater use of vasoactive medications. IMV is associated with significant improvements in shock severity, CPO and SVR at 24 hours when compared to patients with shock who are not intubated, which could be related to higher use of vasopressors. Further investigations are warranted to understand the impact of IMV on outcomes of patients with CS and how they might vary according to hemodynamic profile.

Liver cystic echinococcosis: A retrospective study on the demographics and clinical profile of patients managed at a single tertiary institution in central Eastern Cape Province, South Africa

Background. Cystic echinococcosis (CE) is a zoonotic disease with an Africa-wide prevalence of 1.7%. CE is caused by the tapeworm Echinococcus granulosus sensu lato, with the liver being the most commonly affected organ. In South Africa (SA), there is a paucity of data on liver CE demographics and management. Objectives. To describe the demographics and clinical profile of patients with liver CE in a single tertiary hospital in Eastern Cape Province, SA. Methods. A 4-year (2019 - 2022) retrospective clinical record review study was conducted on patients presenting with liver CE to the Department of Surgery at Frere Hospital. The demographics, clinical characteristics and management of patients with liver CE are reported. Results. A total of 56 patients diagnosed with and managed for liver CE were included in the study. The mean age of the patients was 37.5 years. Abdominal pain (n=39; 69.6%) was the most common presenting symptom, and a palpable abdominal mass (n=36; 64.3%) was the predominant presenting sign. Most patients had disease confined to the liver (n=35; 62.5%). The right lobe of the liver was most commonly affected (n=38; 67.9%), and most patients had a single liver cyst on imaging (n=32; 57.1%). The majority of the patients (n=36; 64.3%) were managed with surgical partial cystectomy, with a perioperative bile leak being the most common complication. Conclusion. In our setting, liver CE contributes to a significant local burden of the disease. The disease often has a nonspecific clinical presentation, necessitating imaging for the diagnosis. We observed good short-term outcomes in patients managed with combined partial cystectomy and medical therapy, although there is a risk of perioperative bile leak.

Observational and cross-sectional study on clinical profile of nontuberculous mycobacterial (NTM) disease in patients at tertiary care hospital of central India

Background Nontuberculous Mycobacterial (NTM) diseases present unique clinical challenges and are increasingly recognised as significant contributors to respiratory and extrapulmonary morbidity. This study protocol outlines an observational and cross-sectional investigation aiming to comprehensively understand the clinical profile of NTM disease, including its prevalence, risk factors, and clinical features, in patients at a tertiary care hospital in central India. Methods Over two years, from July 2022 to June 2024, a convenience sample size will be recruited from TB suspects meeting inclusion criteria. Comprehensive data collection will be conducted, including demographic information, clinical history, radiological findings, microbiological test results, and risk factor assessments. Statistical methods will be applied to the collected data, including descriptive statistics, comparative analysis, risk factor assessments, and multivariate analyses. Expected Results The study aims to provide valuable insights into the prevalence and clinical manifestations of NTM disease, shedding light on the risk factors contributing to its occurrence. The statistical analyses will identify key factors associated with NTM disease and characterise its clinical and radiological features.

Psychotropic medication use and mortality in patients with acute myocardial infarction complicated by cardiogenic shock

Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): The Danish Heart Foundation the Research Foundation of Odense University Hospital & Rigshospitalet. Background The impact of pre-existing mental illness on mortality in patients with acute myocardial infarction complicated by cardiogenic shock (AMICS) remains unclear. Purpose This study aims to assess the relation between pharmacologically treated mental disorders at the time of AMICS admission with patient characteristics and mortality. A surrogate marker for mental illness was defined as having at least one reimbursed prescription for psychotropic medication (Anatomical Therapeutic Chemical (ATC) group and subgroups N05, N06) within one year prior to admission with AMICS. Patients were divided into three therapy categories: None, one ATC subgroup, or two or more ATC subgroups. One-year survivors were further stratified by therapy status one year before admission and one year after discharge. Mortality was assessed at 30 days (5 years for one-year survivors). Kaplan-Meier estimates and univariable and multivariable Cox proportional hazards models were used to assess mortality rates stratified by treatment group. Results Of the cohort, 425 patients (25%) received therapy with psychotropic medication within the previous year at the time of presentation with AMICS. Polypharmacy (two or more ATC N05, N06 subgroups) was identified in 132 patients (8%). In these patients, there was a higher prevalence of comorbidities and a greater proportion of females (42% vs. 21%, p<0.001), compared to no treatment. More patients in the polypharmacy group presented with chest pain (60% vs. 52%, p=0.031), they were less often triaged directly to an invasive center (55% vs. 70%, p<0.001), and 30-day mortality was higher (73% vs. 51%, p<0.001). Among the 712 one-year survivors, 121 (17%) were treated with one or more drugs within one year before and after their AMICS admission. 149 (21%) began receiving therapy in the year following their AMICS admission. 422 (59%) never received psychotropic medication. In an unadjusted Cox model, therapy with two or more drugs, compared to no therapy, was associated with higher 30-day mortality (hazard ratio (HR) 1.77, 95% confidence interval (CI) 1.43-2.19, p<0.001). This association remained significant in multivariable analysis (HR 1.66, 95%CI 1.22-2.26, p=0.001). Among one-year survivors, therapy with one or more drugs before and after AMICS was tied to an almost two-fold increase in five-year mortality (adjusted HR 1.95, 95%CI 1.23-3.10, p=0.004). Conclusions AMICS patients with pharmacologically treated mental illnesses were associated with higher mortality rates, as well as less favorable clinical profiles and treatment patterns. This increased risk remains evident among one-year survivors.

NRN1 epistasis with BDNF and CACNA1C: mediation effects on symptom severity through neuroanatomical changes in schizophrenia.

The expression of Neuritin-1 (NRN1), a neurotrophic factor crucial for neurodevelopment and synaptic plasticity, is enhanced by the Brain Derived Neurotrophic Factor (BDNF). Although the receptor of NRN1 remains unclear, it is suggested that NRN1's activation of the insulin receptor (IR) pathway promotes the transcription of the calcium voltage-gated channel subunit alpha1 C (CACNA1C). These three genes have been independently associated with schizophrenia (SZ)risk, symptomatology, and brain differences. However, research on how they synergistically modulate these phenotypes is scarce. We aimed to study whether the genetic epistasis between these genes affects the risk and clinical presentation of the disorder via its effect on brain structure. First, we tested the epistatic effect of NRN1 and BDNF or CACNA1C on (i) the risk for SZ, (ii) clinical symptoms severity and functionality (onset, PANSS, CGI and GAF), and (iii) brain cortical structure (thickness, surface area and volume measures estimated using FreeSurfer) in a sample of 86 SZ patients and 89 healthy subjects. Second, we explored whether those brain clusters influenced by epistatic effects mediate the clinical profiles. Although we did not find a direct epistatic impact on the risk, our data unveiled significant effects on the disorder's clinical presentation. Specifically, the NRN1-rs10484320 x BDNF-rs6265 interplay influenced PANSS general psychopathology, and the NRN1-rs4960155 x CACNA1C-rs1006737 interaction affected GAF scores. Moreover, several interactions between NRN1 SNPs and BDNF-rs6265 significantly influenced the surface area and cortical volume of the frontal, parietal, and temporal brain regions within patients. The NRN1-rs10484320 x BDNF-rs6265 epistasis in the left lateral orbitofrontal cortex fully mediated the effect on PANSS general psychopathology. Our study not only adds clinical significance to the well-described molecular relationship between NRN1 and BDNF but also underscores the utility of deconstructing SZ into biologically validated brain-imaging markers to explore their mediation role in the path from genetics to complex clinical manifestation.