Functional Assessment Research Articles

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic. We identified an additional six patients with significant developmental delays with heterozygous de novo variants in the KIF5C gene (Glu237Val, Thr93Ile, Thr93Asn, Ser90del, Lys92Arg, and Glu237Lys), of which four variants have not been reported before. Functional assessment was performed on fluorescently-tagged KIF5C variants expressed in isolated hippocampal neurons. The pathogenic de novo variants displayed significantly reduced motor function compared to the wild-type KIF5C. We conclude that the pathogenic de novo variants presented have decreased motor domain activity and that is likely to be the etiology of the patients' symptoms given the gene's constraint in the population. By adding these patients to the seven patients previously reported, we are able to expand the phenotypic spectrum associated with pathogenic KIF5C variants. Evaluation of the neurodevelopmental phenotype of additional individuals with loss of function variants in KIF5C is indicated to further characterize the spectrum of associated phenotypes.

Prevalence of HFpEF in Isolated Severe Secondary Tricuspid Regurgitation.

Secondary tricuspid regurgitation (STR) is observed in multiple cardiac and pulmonary diseases. Heart failure with preserved ejection fraction (HFpEF) is a common cause of STR that may be overlooked, along with precapillary etiologies of pulmonary hypertension (PH). To investigate the prevalence of HFpEF and precapillary PH in patients with severe STR of undefined etiology (isolated STR) referred for exercise right heart catheterization (RHC), and to evaluate the performance of noninvasive measures to identify HFpEF. This retrospective cross-sectional study included consecutive adults with severe STR in the absence of EF less than 50%, hemodynamically significant left-sided valve disease, congenital heart disease, infiltrative or hypertrophic cardiomyopathy, pericardial disease, or prior cardiac procedures who underwent rest-and-exercise RHC between February 2006 and June 2023 at Mayo Clinic and transthoracic echocardiography less than 90 days prior. Diastolic dysfunction (DD) was defined by at least 3 of 4 or 2 of 3 abnormal diastolic parameters (medial e', medial E/e', tricuspid regurgitation [TR] velocity, left atrial volume index). HFpEF was diagnosed when pulmonary arterial wedge pressure was at least 15 mm Hg at rest, at least 19 mm Hg with feet up, or at least 25 mm Hg during exercise. Data analysis was performed from November 2023 to March 2024. The prevalence of HFpEF and precapillary PH in severe isolated STR was determined, and performance of noninvasive measures to identify HFpEF was evaluated. Overall, 54 patients with severe isolated STR (mean [SD] age, 70.8 [12.5] years; 34 [63%] female) were identified. The primary indication for RHC was evaluation of TR prior to potential intervention in 36 patients (67%), evaluation of PH in 13 (24%), and confirmation of HFpEF in 5 (9%). HFpEF was identified in 40 patients (74%) but was recognized prior to RHC in only 19 patients (35%). Of the 14 remaining patients without HFpEF, precapillary PH was diagnosed in 10 (71%). Guideline-defined DD was absent in 24 patients (60%) who were subsequently diagnosed with HFpEF. Left atrial emptying fraction (area under the receiver operating characteristic curve [AUC] = 0.90; 95% CI, 0.82-0.98) and strain (AUC = 0.91; 95% CI, 0.83-0.99) had robust discrimination for HFpEF. The findings suggest that HFpEF is underdiagnosed and should be rigorously evaluated for in patients with severe isolated STR, along with precapillary PH, as both have distinct requirements for management. Resting DD based on current guidelines is insufficiently sensitive in these patients, indicating a pressing need for other noninvasive diagnostic tools, such as left atrial function assessment.

Collagen triple helix repeat-containing 1 protein: an emerging biomarker and its influence on the clinical and sonographic disease severity in Egyptian medicated female rheumatoid arthritis patients

BackgroundRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of synovial joints, with a multifactorial etiology. Collagen triple helix repeat-containing 1 protein (CTHRC1) is a biomarker produced by fibroblast-like synoviocytes, which was shown to be highly expressed in RA patients. The study aimed to measure serum CTHRC1 level in female RA patients currently on medical treatment and its influence on the clinical and sonographic severity of the disease.ResultsThe patients’ mean age was 43.39 ± 8.55 years and median RA disease duration of 5.5 (0.33–20) years. RA patients showed significantly higher serum CTHRC1 level [89.71 ng/ml (53.95–353.45)] in comparison to controls [87.38 ng/ml (44.47–110.3)] (U = 430, P = 0.014). Furthermore, higher serum CTHRC1 levels were recorded in seropositive versus seronegative patients (U = 76, P = 0.022) and in RA patients with severe disease activity compared to those with lower disease activity (H = 9.79, P = 0.007). Furthermore, serum CTHRC1 levels were lower in RA patients receiving biological therapy compared to those receiving conventional therapy; however, this difference did not reach statistical significance.Significant positive correlations were found between CTHRC1 and disease activity, acute-phase reactants, serological markers, functional assessment, fatigue, and erosions detected by ultrasound, while a significant negative correlation was recorded between CTHRC1 and duration of biologic intake (rs = − 0.45, P = 0.036). Furthermore, on multivariate linear regression analysis, serum CTHRC1 was the only significant predictor for higher disease activity (P = 0.028, B = 0.009, 95% CI 0.001 to 0.017).ConclusionRA patients showed higher CTHRC1 serum levels compared to healthy controls, especially those with seropositivity and highly active disease. Furthermore, it was positively associated with poor patient functional outcome, fatigability, and erosive findings by ultrasound, thus suggesting that serum CTHRC1 can be a good predictor for high RA disease activity and possibly severity. Moreover, biological therapy could influence serum CTHRC1 levels in these patients.

Multidimensional assessment of physical function for people in dialysis: the Rehabilitation in hEmodialysis Area Centro Toscana (REACT) Study.

BACKGROUNDː Physical performance is poorly addressed in dialysis patients, due to several clinical and organizational barriers. In this study we investigated the physical functional status of a cohort of dialysis patients, using a multidimensional assessment. METHODSː Four hundred and forty-six individuals from 8 hemodialysis centers (176 females), mean age 67.5±14.1 years, and dialysis vintage 62 ± 72.1 months, were assessed by a multidimensional battery including Short Form Health Survey (SF12), Elderly Falls Screening Test (EFST), Short Physical Performance Battery (SPPB), and handgrip strength test (HST). Individuals were stratified into 3 groups (poor, moderate and good performers) according to the SPPB score. Functional assessments were performed by staff nurses, with the support of physiotherapists and nephrologists. RESULTSː According to SPPB 53,4% of dialysis patients showed a severe physical impairment. A significant difference emerged among the 3 SPPB groups for age, HST, EFST and SF12. The main predictors of the SPPB score group were age (p=0,0001) EFST (p=0,028 moderate performers and p=0,0001 poor performers) dominant HST(p=0,04 moderate performers) and SF12 physical (p=0,003 moderate performers and p=0,0001 poor performers) . Each age groups showed physical performance comparable to healthy general population of ten years older. CONCLUSIONSː Our results confirmed the severe impairment of physical function in ESKD population. The multidimensional assessment showed that SPPB test is an effective tool to stratify dialysis population. Moreover, EFST, HST and SF12 may contribute to the definition of a tailored physical activity program based on patient characteristics.

Study of Sterically Crowded Alkanes: Assessment of Non-Empirical Density Functionals Including Double-Hybrid (Cost-Effective) Methods.

We theoretically study here the homolytic dissociation reactions of sterically crowded alkanes of increasing size, carrying three different (bulky) substituents such as tert-butyl, adamantyl, and [1.1.1]propellanyl, employing a family of parameter-free functionals ranging from semi-local, to hybrid and double-hybrid models. The study is complemented with the interaction between a pair of HC(CH3)3 molecules at repulsive and attractive regions, as an example of a system composed by a pair of weakly bound sterically crowded alkanes. We also assessed the effect of incorporating reliable dispersion corrections (i. e., D4 or NL) for all the functionals assessed, as well as the use of a tailored basis set (DH-SVPD) for non-covalent interactions, which provides the best trade-off between accuracy and computational cost for a seemingly extended applications to branched or crowded systems. Overall, the PBE-QIDH/DH-SVPD and r2SCAN-QIDH/DH-SVPD methods represent an excellent compromise providing relatively low, and thus very competitive, errors at a fraction of the cost of other quantum-chemical methods in use.

Treatment satisfaction and effectiveness of Lurasidone on quality of life and functioning in adult patients with schizophrenia in the real-world Italian clinical practice: a prospective 3-month observational study.

Although second-generation antipsychotics (SGAs) have proven to be effective therapeutic options for patients with schizophrenia, there is a notable lack of evidence on patients' subjective perspectives regarding their well-being, quality of life, and satisfaction with these medications. This study aimed to evaluate the treatment satisfaction and effectiveness of lurasidone on quality of life and functioning in adult patients with schizophrenia in real-world Italian clinical practice. This was a multicentre, national, non-interventional, single-arm, 3-month prospective study. Patients who were naive to lurasidone treatment and whose treating physician had decided to start them on this medication were enrolled and evaluated over a 3-month period. Eligible patients were adults (≥ 18 years of age) with a primary diagnosis of schizophrenia who were being treated with lurasidone (for the first time [i.e., they were lurasidone naive]) as part of routine clinical practice. Efficacy endpoints were changes in patient/caregiver treatment satisfaction (seven-point Likert scale from the Treatment Satisfaction Questionnaire for Medication), patient quality of life and functioning (QLS), investigator-rated global assessment of functioning (CGI-S, IAQ) after 6 weeks and 3 months of lurasidone, and number of relapses and hospitalizations. Sixty-one patients were enrolled and 59 completed the study. The median dosage of lurasidone at baseline was 37.00mg/day. The median duration of titration was 86.0 days (Min 28; Max 115 days); the median number of dosage changes was 1.0. At the end of 3-month observation period, the median dose of lurasidone was 74.00mg/day. QoL and Functioning Score showed a trend of improvement over time, reaching a mean change from baseline of 9.8 at the end of the study. According to the CGI-S, the percentage of patients who were "markedly or severely ill" showed a continuous decrease from baseline to 3 months, from 62.29% to 8.20%. Patient satisfaction increased over time, with 80.32% of patients reporting that they were somewhat, fairly, or very satisfied (including 63.93% who were completely or very satisfied) at the end of the study. No relapses/hospitalizations for psychiatric reasons were reported. Lurasidone was well tolerated with no safety concerns or discontinuations due to AEs. Lurasidone represents a valid option for the treatment of schizophrenia and positively affects subjective well-being, quality of life and satisfaction. NCT06527885 retrospectively registered (01/08/2024).

Resilience and spiritual well-being as resources for coping with radiotherapy and surviving in patients with glioblastoma.

The primary aims of this multicenter, prospective observational study were to investigate spiritual well-being, resilience, and psychosocial distress in an Italian sample of glioblastoma patients undergoing radiochemotherapy. The secondary aim was to explore the influence of demographic, clinical, and psychological characteristics on survival. The assessment was conducted only once, within the first week of radiochemotherapy treatment. Spiritual well-being was evaluated by the Functional Assessment of Chronic Illness Therapy-Spiritual Well-being (FACIT-Sp-12), and religious/spiritual beliefs and practices were evaluated by the System of Belief Inventory. Resilience was evaluated by the Connor-Davidson Resilience Scale (CD-RISC). Psychosocial distress was evaluated the by Distress Thermometer and Hospital Anxiety Depression Scale. We conducted an univariable analysis of overall survival (OS) using data from the most recent follow-up available, considering demographic and clinical variables that could influence survival. Follow-up was defined as either the time of death or the latest follow-up visit recorded. We recruited 104 patients, and the median follow-up time was 18.3 months. "Distressed" patients had lower scores than "not distressed" patients on the FACIT-Sp-12 and CD-RISC. While OS was not significant according to the FACIT-Sp-12 threshold, the Kaplan-Meier log-rank test was 0.05 according to the CD-RISC threshold. Among demographic variables, age showed significant associations with OS (p = 0.011). Resilience showed significant associations with OS (p = 0.025). Data showed that high spiritual well-being was associated with high resilience and an absence of psychosocial distress in our sample of glioblastoma patients undergoing radiochemotherapy. Patients with greater resilience survived longer than those with lesser resilience. Profiling spiritual well-being and resilience in glioblastoma patients undergoing radiochemotherapy can be seen as a resource to identify novel characteristics to improve clinical take-in-charge of glioblastoma patients.

Intraoperative Invasive Coronary Angiography after Coronary Artery Bypass Grafting.

The aim of this study was to prospectively evaluate the feasibility and safety of intraoperative invasive coronary angiography (ICA) following coronary artery bypass grafting using a mobile angiography C-arm. Between August 2020 and December 2021, 18 patients were enrolled for intraoperative ICA following coronary artery bypass grafting. After skin closure, ICA was performed including angiography of all established bypass grafts via a mobile angiography system by an interventional cardiologist. Data on graft patency, stenosis, and kinking were assessed. Grafts were rated on an ordinal scale ranging from very poor (1) to excellent (5). Furthermore, the impact of ICA compared with flow measurement was assessed using the ordinal Likert scale ranging from (I) worse to (V) much better. The ICA was considered better (V) compared with transient flow measurement in 38 (93%) and comparable (III) in 3 (7%) distal anastomoses. ICA impacted clinical or surgical decision-making in three patients (17%). In one patient, dual antiplatelet therapy for 6 months was initiated and rethoracotomy was needed in two (11%) patients with bypass graft revision and additional bypass grafting for graft occlusion. There were no cerebral and distal embolic events or access vessel complications observed and no postoperative acute kidney injury occurred. Intraoperative angiography after coronary bypass grafting is safe. Using a mobile angiographic device, graft patency, and function assessment was superior to transit time flow measurement leading to further consequences in a relevant number of patients. Therefore, it has the potential to reduce postoperative myocardial injury and improve survival.

Modified calculation of the IIEF6-a more accurate assessment of erectile function in middle-aged men.

The Erectile Function Domain of the International Index of Erectile Function (IIEF6) is inaccurate in assessing erectile function in men who are not practicing sexual intercourse. Improvement through a modification was recently tested on patients after radical prostatectomy. This study examines the application of this modification in a population-based cohort of middle-aged men. To assess the feasibility of a modified IIEF6 in a population-based random sample of 50-year old men in Germany. 4924 men were included. IIEF6, Erection Hardness Score (EHS), and causes for the absence of sexual intercourse within the previous 4weeks were assessed. Modified calculation (double weighting of non-intercourse IIEF6 questions) was applied in case of absence due to external circumstances. Impact of the modification on erectile dysfunction (ED) prevalence and agreement between IIEF6 and EHS in ED classification. As a result of the modified calculation, ED prevalence in the overall study sample decreased by 6.2% to a rate of 27.2%. Agreement between IIEF6 and EHS was increased from 2.7% to 73.4% in men with no sexual intercourse due to external circumstances. An additional inquiry into the reason for the absence of sexual intercourse and modified calculation enhances the accuracy of IIEF6 in evaluating erectile function of the individual man. This study comprises a large population-based sample. As the study population was exclusively 50-year-old men, results may not be representative of the population average. A more accurate evaluation of an individual man's erectile function may be achieved by using a modified version of the IIEF6.

Association of physical function with hospital readmissions among older adults: A systematic review.

Hospital readmissions pose significant burdens on healthcare systems, particularly among older adults. While efforts to reduce readmissions have historically focused on medical management, emerging evidence suggests physical function may also play a role in successful care transitions. However, there is a limited understanding of the relationship between functional measures and readmission risk. This systematic review aims to assess the association between physical function impairments and hospital readmissions. This systematic review aims to assess the association between physical function impairments and hospital readmissions. A systematic review was conducted following PRISMA guidelines, with studies identified through databases including PubMed, CINAHL, Embase, and others published January 1, 2010-December 31, 2022. Inclusion criteria encompassed observational studies of adults aged 50 and older in the United States, reporting readmissions within 90 days of discharge and assessing physical function across domains of the International Classification of Function model. Data extraction and risk of bias assessment were independently conducted by two authors using theScottish Intercollegiate Guidelines Network (SIGN) tool. Seventeen studies, representing 80,008 participants, were included in this systematic review. Patient populations included a wide array of medical populations, including general medical inpatients and those undergoing cardiac surgery. Across various functional measures assessed before or during admission, impairments were consistently associated with increased risk for hospital readmissions up to 90 days after admission. Measures of participation, including life-space mobility, were also associated with increased readmission risk. Functional impairments are robust predictors of hospital readmissions in older adults. Routine assessment of physical function during hospitalization can improve risk stratification and may support successful care transitions, particularly in older adults.

Assessment Tools for Masticatory Function in Periodontitis Patients: A Scoping Review.

The aim of this scoping review was to map the available evidence on assessment tools for masticatory function for periodontitis patients. It also aimed to examine the methodology of masticatory function assessment and to identify the elements of subjective masticatory function evaluation for periodontitis patients reported in the literature. A scoping review was conducted following the methodological guidance for the conduct of scoping reviews. Embase, MEDLINE, Web of Science, and Scopus were systematically searched for published studies in English reporting objective or subjective masticatory function assessment in periodontitis patients. Forty-five studies were included in the analysis. The identified assessment tools for masticatory function were summarized using the terminology described by the recent consensus. Heterogeneity was observed in the approach of assessment, the type(s) and design of assessment tools, and the methods of measurement employed. Most studies utilized only one assessment tool. Seven studies reported composite objective assessment and five studies utilized assessment tools for both objective and subjective masticatory function. Items from the included instruments for subjective masticatory function were analyzed and categorized into seven potentially clinically relevant elements of subjective masticatory function evaluation. Unclear reporting on validation status was found in all included instruments for subjective masticatory function. Variable methodologies have been reported to assess masticatory function in periodontitis patients. Future research is needed to discern the clinical utility of these assessment tools for masticatory function in periodontitis patients.

Analysis of Speech Features in Alzheimer’s Disease with Machine Learning: A Case-Control Study

Background: Changes in the speech and language of patients with Alzheimer’s disease (AD) have been reported. Using machine learning to characterize these irregularities may contribute to the early, non-invasive diagnosis of AD. Methods: We conducted cognitive function assessments, including the Mini-Mental State Examination, with 83 patients with AD and 75 healthy elderly participants, and recorded pre- and post-assessment conversations to evaluate participants’ speech. We analyzed the characteristics of the spectrum, intensity, fundamental frequency, and minute temporal variation (∆) of the intensity and fundamental frequency of the speech and compared them between patients with AD and healthy participants. Additionally, we evaluated the performance of the speech features that differed between the two groups as single explanatory variables. Results: We found significant differences in almost all elements of the speech spectrum between the two groups. Regarding the intensity, we found significant differences in all the factors except for the standard deviation between the two groups. In the performance evaluation, the areas under the curve revealed by logistic regression analysis were higher for the center of gravity (0.908 ± 0.036), mean skewness (0.904 ± 0.023), kurtosis (0.932 ± 0.023), and standard deviation (0.977 ± 0.012) of the spectra. Conclusions: This study used machine learning to reveal speech features of patients diagnosed with AD in comparison with healthy elderly people. Significant differences were found between the two groups in all components of the spectrum, paving the way for early non-invasive diagnosis of AD in the future.

Dynamics trajectory of patient-reported quality of life and its associated risk factors among hepatocellular carcinoma patients receiving immune checkpoint inhibitors: a prospective cohort study

ObjectiveWe aimed to characterize quality of life (QOL) trajectories among patients with intermediate and advanced hepatocellular carcinoma patients treated with immunotherapy.MethodsBarcelona Clinic Liver Cancer (BCLC) stage B-C HCC patients receiving immunotherapy at Guangxi Medical University Cancer Hospital were included. Trajectories of QOL, assessed using the Functional Assessment of Cancer Therapy-Hepatobiliary (FACT-Hep) questionnaire, were identified through iterative estimations of group-based trajectory models. Associations with trajectory group membership were analyzed using multivariable multinomial logistic regression.ResultsThree trajectory groups were identified (n=156): excellent (35.3%), poor (43.6%), and deteriorating (21.1%) QOL. The deteriorating trajectory group reported a mean QOL score of 124.79 (95% CI, 116.58–133.00), but then declined significantly at month-2 (estimated QOL score 98.67 [95% CI, 84.33–113.00]), and the lowest mean score is reached at month-6 (estimated QOL score 16.58 [95% CI, 0–46.07]). Factors associated with membership to the deteriorating group included no drinking (odds ratio [OR] vs yes [95% CI], 3.70 [1.28–11.11]), no received radiotherapy (OR vs yes [95% CI], 8.33 [1.41–50.00]), diabetes (OR vs no [95% CI], 6.83 [1.57–29.73]), and extrahepatic metastasis (OR vs no [95% CI], 3.08 [1.07–8.87]). Factors associated with membership to the poor group also included body mass index ≤24.0 kg/m2 (OR vs no [95% CI], 4.49 [1.65–12.22]).ConclusionsThis latent-class analysis identified a high-risk cluster of patients with severe, persistent post-immunotherapy QOL deterioration. Screening relevant patient-level characteristics may inform tailored interventions to mitigate the detrimental impact of immunotherapy and preserve QOL.

Cysteine Leukotriene Receptor Antagonist-Montelukast Effects on Diabetic Retinal Microvascular Endothelial Cells Curtail Autophagy.

Diabetic macular edema (DME) is the primary cause of vision impairment in diabetic retinopathy (DR) patients. A previous study has shown the efficacy of montelukast, a cysteinyl leukotriene receptor (CysLTR)1 antagonist, in a diabetic mouse model. This study aims to understand the CysLTR1 signaling in retinal endothelial cells and the impact of montelukast. Primary human retinal microvascular endothelial cells (HRECs) challenged with 20 ng/mL TNF-α and 30mM D-glucose (D-glu) for six to 24 hours served as a model of endothelial activation. HRECs were incubated with L-glucose (L-glu) as an osmotic control. CysLTR1 knockdown and montelukast pretreatment assessed CysLTR1 antagonism. Gene expression, protein expression, and cell-permeable dyes were utilized to measure autophagy and inflammation. Transendothelial electrical resistance (TER) and transendothelial migration of mononuclear leukocytes across HRECs monolayer were measured as a functional assessment of vascular permeability. Endothelial activation induced by hyperglycemia and inflammation increased CysLTR1 expression, triggering autophagy within two to six hours, IL-1β production, loss of junction integrity, decreased TER, and increased leukocyte migration within six to 24 hours. Pretreatment with montelukast effectively alleviated these effects, demonstrating its dependence on CysLTR1. Dysfunctional retinal endothelium initiates a self-reinforcing loop of inflammation, autophagy, and compromised integrity associated with heightened CysLTR1 levels. The antagonistic effect of montelukast against CysLTR1 effectively mitigates these detrimental changes. This study reveals CysLTR1 as a potential therapeutic target in treating DME and offers a novel strategy to mitigate detrimental changes in DR.

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is an autosomal dominant neurodevelopmental disorder and multisystem disease caused by pathogenic DNA alterations in the TSC1 and TSC2 tumor suppressor genes. A molecular genetic diagnosis of TSC confirms the clinical diagnosis, facilitating the implementation of appropriate care and surveillance. TSC1 and TSC2 encode the core components of the TSC, a negative regulator of the mechanistic target of rapamycin (MTOR) complex 1 (TORC1). Functional analysis of the effects of TSC1 and TSC2 variants on TORC1 activity can help establish variant pathogenicity. We searched for pathogenic alterations to TSC1 and TSC2 in DNA isolated from 116 individuals with a definite clinical diagnosis of TSC. Missense variants and in-frame deletions were functionally assessed. Pathogenic DNA alterations were identified in 106 cases (91%); 18 (17%) in TSC1 and 88 (83%) in TSC2. Of these, 35 were novel. Disruption of TSC activity was demonstrated for seven TSC2 variants. Molecular diagnostics confirms the clinical diagnosis of TSC in a large proportion of cases. Functional assessment can help establish variant pathogenicity and is a useful adjunct to DNA analysis.

Sexual dysfunctions in inflammatory bowel disease: role of Mediterranean diet and quality of life.

Dietary factors and chronic gastrointestinal diseases are frequent determinants of sexual dysfunctions (SD). Whether inflammatory bowel diseases (IBD) are associated with SD is not well known as well as the role of diet and quality of life (QoL). To evaluate the prevalence of SD in a cohort of IBD patients and assess the role of clinical-demographic variables, adherence to Mediterranean diet (MD) and QoL. This is a cross-sectional observational study involving 301 patients (134 females and 167 males); 119 had Crohn's Disease and 182 had ulcerative colitis. SD were assessed through the Female Sexual Function Index (FSFI) and the International Index of Erectile Function (IIEF). Adherence to MD was evaluated by the MD Score. QoL was investigated by the 12-item Short-Form Health Survey (SF-12) which yields summary scores of physical (PCS) and mental (MCS) health. Multiple logistic regression was used to identify predictors of SD. Prevalence of SD in females was 61.9%, while 52.1% of males had erectile dysfunction. No differences in the prevalence of SD were found between CD and UC in both males and females. IBD activity, as defined by patient-reported outcomes, was significantly associated with SD in both sexes. In females, MD adherence score (OR 0.8, 95% CI 0.653-0.974, p=0.027), PCS (OR=0.936, CI 95%=0.891-0.983, p=0.008), and MCS (OR 0.9, 95% CI 0.906-0.985, p=0.008) were protective against SD, whereas in males a higher PCS was associated with a lower probability of SD (OR 0.9, 95% CI 0.891-0.978, p=0.004) DISCUSSION: IBD patients had a significant prevalence of SD which occurred more frequently in females than in males. Disease activity is associated with a higher likelihood of SD in both sexes, whereas dietary factors are differentially associated with SD in males and females. A better QoL is associated with a lower risk of SD. SD is prevalent among men and women with IBD. Adherence to MD, PCS and MCS in females as well as PCS in males were protective against SD. The assessment of sexual function in IBD patients could be relevant in order to reach an early diagnosis and a timely treatment.

Outcome, Complications, and Follow-Up in Dogs Treated with Pancarpal Arthrodesis Stabilized with Orthogonal Plates.

Pancarpal arthrodesis was performed in 21 dogs, using orthogonal (cranial/dorsal and medial) plates without postoperative rigid external coaptation. Short-term and long-term outcomes, arthrodesis progression, and complications were assessed using a retrospective review of case records and radiographs. Three of 21 (14.2%) dogs required a revision surgery: 2 had total implant explantation and 1 had a screw removed. Other complications were managed successfully medically. One of 21 (4.8%) dogs had confirmed deep surgical site infection requiring implant removal, and 4 of 21 (19%) had suspected (not confirmed on microbiology) superficial surgical site infections that resolved with medical management. Long-term outcomes were assessed via owner questionnaire (Canine Brief Pain Inventory) and were available for nine dogs at a mean of 26.78 mo after surgery. The mean score for the first part (assessment of pain) was 7.83/40, which is classified as no pain to mild pain. The mean score for the second part (assessment of function) was 12.67/60, which is classified as very good. The last part (overall impression) was defined as excellent in four dogs (44.44%), very good in one dog (11.11%), and good in the other four dogs (44.44%). This retrospective study documents a suitable technique for pancarpal arthrodesis in dogs with carpal injuries.

Congenital Anomalies of the Kidney and Urinary Tract in Patients with Hirschsprung Disease.

To determine the frequency and types of congenital anomalies of the kidney and urinary tract (CAKUT) in patients with Hirschsprung disease. An observational cross-sectional study. Place and Duration of the Study: Department of Paediatric Surgery, National Institute of Child Health, Karachi, Pakistan, from June to December 2022. All patients with biopsy-proven Hirschsprung disease were included. Ultrasound was done to find out the anatomical and structural anomalies of the kidney and urinary tract. Functional assessment was done by renal function tests and MAG3 radioisotope scan where indicated. Fisher's exact test was applied to find out the association. A p ≤0.05 was taken as significant. Out of a total of 83, 15 (18.0%) patients had CAKUT. The mean age of the study population was 5.5 ± 2.3 years. It included 61 (73.5%) males and 22 (26.5%) females. No significant association was found between the type of Hirschsprung disease and CAKUT (p = 0.7). The gender distribution between CAKUT patients was also insignificant (p = 0.7). Renal hypoplasia was the most common anomaly found in six patients followed by hydronephrosis due to pelvi-ureteric junction obstruction in four children. All of these children were asymptomatic. Five male patients had undescended testis. Nearly a fifth of the children with Hirschsprung disease had CAKUT of whom renal dysplasia was the most common anomaly. There was no gender predilection and patients were asymptomatic regarding the urinary system. A routine ultrasound abdomen is a good screening investigation for identifying CAKUT. Hirschsprung disease, Kidney and urinary tract, Congenital diseases of the urinary tract, Congenital anomalies.

Three-Dimensional Speckle Tracking Echocardiography Assessment of Right Ventricular Function in Chronic Coronary Syndrome Patients After Percutaneous Coronary Intervention.

This study aimed to assess alterations in right ventricular (RV) function following percutaneous coronary intervention (PCI) in patients with chronic coronary syndromes utilizing three-dimensional speckle tracking echocardiography (3D-STE). A prospective study was conducted involving 136 patients diagnosed with chronic coronary syndromes undergoing PCI, constituting the study group, alongside 110 age- and gender-matched healthy volunteers serving as the control group. Echocardiographic evaluations, including both conventional and three-dimensional assessments, were performed on all study participants at 1-week, 6, and 12 months post-PCI. Parameters such as tricuspid annular plane systolic excursion (TAPSE) were derived from conventional echocardiography, while tricuspid lateral annular systolic velocity (S') was measured via tissue Doppler imaging. 3D-STE was utilized to quantify metrics including right ventricular fractional area change (RVFAC), right ventricular free wall longitudinal strain (RVFWLS), right ventricular global longitudinal strain (RVGLS), right ventricular stroke volume (RVSV), and right ventricular ejection fraction (RVEF). TAPSE, S', RVFAC, RVFWLS, RVGLS, RVSV, and RVEF exhibited significant increases from 1-week to 6 months post-PCI (p < 0.05). However, from 6 to 12 months post-PCI, RVFAC, RVGLS, RVSV, and RVEF demonstrated no notable changes (p > 0.05). Meanwhile, TAPSE, S', and RVFWLS sustained significant elevations: TAPSE (19.63±3.253% to 22.603±2.885%, p < 0.001); S' (10.57±2.643 to 12.61±2.189cm/s, p < 0.001); RVFWLS (18.64±2.745% to 19.926±3.291%, p = 0.002). At 12 months post-PCI, S', RVFAC, RVGLS, RVSV, and RVEF remained lower than those of the healthy control group, but the differences were not statistically significant (p > 0.05). However, RVFWLS was significantly lower compared to the healthy control group (19.926 ± 3.291%vs. 22.10 ± 1.994%, p < 0.001). Following PCI, right ventricular systolic function in patients with chronic coronary syndromes improves significantly over time. However, even at the 12-month post-PCI mark, RVFWLS remains lower than that of the control group. Notably, 3D-STE emerges as a noninvasive method for quantifying right ventricular systolic function post-PCI in chronic coronary syndrome patients.

Improved vascular health linked to increased physical activity levels and reduced sedentary behavior in rheumatoid arthritis.

Rheumatoid arthritis (RA) is characterized by deteriorated vascular health and increased cardiovascular risk. Physical activity (PA) is recommended for cardiovascular management in RA, but evidence on the associations between objectively-measured PA and vascular health markers in RA is limited. In this cross-sectional study, eighty-two post-menopausal women with RA (62±7 years) undertook ultrasound assessments of vascular function and structure, including brachial and superficial femoral artery (BA and SFA) flow-mediated dilation; baseline and post-hyperemia peak diameters; and carotid intima-media thickness. Participants also performed a 7-day accelerometer-based assessment of PA and sedentary behavior (SB). Fitted regression models controlled for age, body mass index and disease activity were conducted to examine associations between vascular and PA outcomes. Regression analyses revealed that prolonged SB (bouts>60min) and total sedentary time were inversely associated with both baseline and peak BA diameters, with each additional hour of SB resulting in decreases of 0.08-0.1mm in these diameters (p≤0.01). Total sedentary time also showed similar negative associations with peak SFA diameters (β=-0.14[-0.24-0.05], p<0.01). Conversely, light-intensity PA and stepping time were positively associated with both baseline and peak BA diameters, with each additional hour increasing these diameters by 0.10-0.24mm (p≤0.02). Finally, standing time was positively associated with SFA peak diameter (β=0.11[0.01-0.20], p=0.02). No associations were found between moderate-to-vigorous PA and vascular outcomes. In conclusion, in patients with RA, SB was negatively, while light PA was positively, associated with BA and SFA diameters. These findings suggest that reducing SB and increasing PA, even at light intensities, may improve vascular health in RA.