Clinical Features Research Articles

Clinicopathological features and treatment of gastrointestinal schwannomas

BACKGROUND Gastrointestinal schwannomas (GIS) are rare neurogenic tumors arising from Schwann cells in the gastrointestinal tract. Studies on GIS are limited to small case reports or focus on specific tumor sites, underscoring the diagnostic and therapeutic challenges they pose. AIM To comprehensively examine the clinical features, pathological characteristics, treatment outcomes, associated comorbidities, and prognosis of GIS. METHODS The study population included patients diagnosed with GIS at the First Affiliated Hospital, Zhejiang University School of Medicine, between June 2007 and April 2024. Data were retrospectively collected and analyzed from medical records, including demographic characteristics, endoscopic and imaging findings, treatment modalities, pathological evaluations, and follow-up information. RESULTS In total, 229 patients with GIS were included, with a mean age of 56.00 years and a male-to-female ratio of 1:1.83. The mean tumor size was 2.75 cm, and most (76.9%) were located in the stomach. Additionally, 6.6% of the patients had other malignant tumors. Preoperative imaging and endoscopy frequently misdiagnosed GIS as gastrointestinal stromal tumors. However, accurate preoperative diagnosis was achieved using endoscopic ultrasound-guided fine-needle aspiration combined with immunohistochemical analysis, in which S100 and SOX-10 markers were mostly positive. Smaller tumors were typically managed with endoscopic resection, while larger lesions were treated with surgical resection. Follow-up results showed that most patients experienced favorable outcomes. CONCLUSION Preoperative diagnosis of GIS via clinical characteristics, endoscopy, and imaging examinations remains challenging but crucial. Endoscopic therapy provides a minimally invasive and effective option for patients.

Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study

Background: Cysteine beta-synthase deficiency, often known as classic homocystinuria, is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics. Objective: This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, homocystinuria patients presented with between 2018 and 2022. Methods: This retrospective research included 6 homocystinuria patients. Demographic and clinical characteristics of patients as age, gender, comorbidities were collected. Relevant clinical and ophthalmic assessments, like visual acuity, fundus examination findings, complications and type of surgery were also reported. Results: Six patients with homocystinuria (12 eyes) were included. Associated diseases were mostly mental retardation (100%), epilepsy (66.7%), developmental delay (50.0%), scoliosis (33.3%), bronchiectasis (16.7%), thrombophilia (16.7%), metabolic disorders (16.7%) and deep venous thrombosis (16.7%). All patients had ectopia lentis (100%), while one patient (16.7%) had eye ectropion, one patient (16.7%) had anterior uveitis and one patient (16.7%) had scleromalacia. Surgery type was mostly Lensectomy and vitrectomy (83.3%) then scleral fixation (16.7%), and Grice green procedure (16.7%). There were insignificant differences between first and last Autoref readings in spherical, cylinder and axis errors of right and left eyes Conclusions: Late-diagnosed homocystinuria patients frequently have abnormalities of the eyes. Ectopia lentis should always raise the possibility that homocystinuria is the cause of the condition.

Clinical Features of Acute on Chronic Lower Limb Ischemia and the Importance of Underlying Arterial Disease for Revascularization

Clinical Features of Acute on Chronic Lower Limb Ischemia and the Importance of Underlying Arterial Disease for Revascularization

Spectrum of Parathyroid Disorders in Pakistan: a Review Article

Parathyroid abnormalities and gland diseases are classified as hyperparathyroidism and hypoparathyroidism. These conditions are often discovered incidentally during screenings for abnormal serum calcium levels, typically conducted for renal or bone diseases and other disorders. Parathyroid hormone (PTH) plays a crucial biological role in maintaining ionized calcium and phosphate levels within the normal range by activating specific receptor-mediated cell responses throughout the body. Compared to the Western world, Pakistan has significantly fewer publications on parathyroid diseases. Most available research comprises case reports, small case series, or retrospective studies, often including approximately 100 studies. In this article, we describe the demographics and varied clinical presentations of parathyroid gland disorders in the Pakistani population. Additionally, we provide a summary of biochemical parameters and localization strategies used in these cases. A compiled record of parathyroid gland disorders in Pakistan is currently lacking, and this article aims to bridge that gap by presenting a comprehensive review of all reported cases. This review includes a summary of 54 studies, comprising retrospective studies and case reports, highlighting the clinical variability of parathyroid (PTH) disorders in Pakistan. According to the literature, 0.5% of patients were asymptomatic, while the mean duration of symptoms among symptomatic patients was 3.03 years. Unlike Western populations, laboratory findings from Pakistani patients show elevated levels of serum calcium, serum parathyroid hormone, and serum alkaline phosphate. Common clinical features included abdominal pain, dysphagia, and vitamin D deficiency, along with constitutional symptoms such as arthralgias, myalgias, fatigue, and headache. Psychiatric complications, particularly clinical depression, and pathological fractures emerged as the most frequent complications associated with PTH disorders in Pakistan.

Clinical characteristics of Kawasaki disease with pulmonary radiographic abnormalities and its impact on the incidence of coronary artery lesions: a randomized retrospective cohort study

ObjectiveThe aim of this study was to investigate the characteristics of Kawasaki disease (KD) in patients demonstrating pneumonia-like changes and pulmonary complications, as well as the subsequent impact on coronary artery lesions, by comparing them with those of KD patients with normal pulmonary imaging.MethodFrom January 1, 2013 to October 1, 2022, this study included paediatric patients diagnosed with KD who were registered in the KD database at Yuying Children's Hospital affiliated with Wenzhou Medical University. Patients were divided into three distinct groups based on the presence and severity of abnormalities observed via lung imaging. We first compared the demographic and clinical characteristics across these groups. The imaging characteristics of KD patients with pneumonia-like changes and pulmonary complications were identified via chest radiography (x-ray) and chest computerized tomography (CT). Logistic regression models and stratified analyses were employed to further identify factors influencing coronary artery lesions (CALs).ResultsAmong the 2,686 KD children admitted to our centre in recent years, 115 presented with pneumonia-like changes, 366 presented with pulmonary complications, and 495 presented with no evident abnormalities on chest radiographs. In KD patients with pneumonia-like changes, there were significant elevations in inflammatory markers including the C-reactive protein (CRP) (P = 0.011), white blood cell (WBC) (P = 0.027), NT-proBNP (P = 0.007), and D-dimer (D-D) (P = 0.002) levels. Imaging studies have frequently revealed bilateral lung infections, predominantly in the mid-lower lung fields. Bronchitis-related changes were the most common manifestation of pulmonary complications in KD patients. A significant difference was observed in the incidence of CALs among patients with pneumonia-like changes. After adjusting for confounding variables, patients with pneumonia-like changes had a greater likelihood of developing CALs, with an adjusted odds ratio (OR) of 1.94 [95% confidence interval (CI): 1.21, 3.11]. Similar findings were obtained through stratification and sensitivity analyses.ConclusionPatients diagnosed with KD who develop pneumonia-like changes and related pulmonary complications can be identified based on their clinical manifestations and imaging characteristics. Moreover, patients with KD and pneumonia-like changes had a significantly increased risk of developing CALs.

Empirically Determining Binge/Purge Frequency Thresholds for Differentiating Anorexia Nervosa-Restricting Subtype vs. Binge-Purge Subtype.

While research supports differentiating anorexia nervosa into binge-purge (AN-BP) vs. restricting (AN-R) subtypes, DSM-5-TR does not provide a specific threshold of binge and/or purge episodes that constitutes an AN-BP vs. AN-R diagnosis. Our review of the literature suggests that cutoffs used for defining AN subtypes are rarely reported and, when reported, are highly heterogeneous. Inconsistent subtyping protocols limit generalizability and understanding of AN-R and AN-BP differences. The present study used structural equation modeling (SEM) trees to empirically determine the frequency of binge eating and/or purging that best differentiates AN subtypes. We then compared empirically determined groups on characteristics frequently found to differ between subtypes. Participants were 731 adolescents and adults with AN (94% female, Mage = 20, 72% clinically diagnosed with AN-R) in a partial hospitalization program who completed assessments of AN and comorbid symptoms at intake. SEM tree analyses yielded four subgroups: past-month binge/purge frequency 0 (AN-R; n = 396); frequency 1-3 (AN-BP1; n = 101); frequency 4-15 (AN-BP2; n = 130); and frequency > 16 (AN-BP3; n = 98). AN-R differed from higher frequency groups on 14/22 clinical characteristics, AN-BP1 differed from higher frequency groups on 11/22 clinical characteristics, and AN-BP2 differed from higher frequency groups on 2/22 clinical characteristics. Findings suggest that one binge eating and/or purge episode in the past month provides adequate distinction between subtypes. These findings indicate that the DSM's definition of AN-BP may need to be revised to specify that the presence of any binge eating or purging, rather than "recurrent" binge eating or purging, is sufficient for subtyping AN.

Remote Site Delayed Extradural Hematoma Secondary to Decompressive Craniectomy for Traumatic Brain Injury: Incidence, Predictors, Characteristics, and Outcomes

Objective: Remote site delayed extradural hematoma (RDEDH) is an uncommon but serious complication that can occur after decompressive craniectomy (DC) in patients with traumatic brain injury (TBI). This study aims to clarify the incidence, predictors, clinical and radiological characteristics, and outcomes of RDEDH to improve the authors' understanding and management of this complication. Methods: This study identified 36 patients with TBI who developed RDEDH after DC. The incidence, predictors, clinical and radiological characteristics, and outcomes were analyzed retrospectively. Continuous variables were compared using the student t test, whereas categorical variables were assessed using the χ2 test. Variables with a P value of <0.05 in univariable analysis were included in the multivariable logistic regression analysis. Results: The incidence of RDEDH after DC was 14.6%. Preoperative pupillary dilation [bilaterally; odds ratio (OR): 8.797; 95% CI: 1.969–39.297; P = 0.004], intraoperative acute brain swelling (OR: 33.696; 95% CI: 5.073–227.005; P < 0.001), and pupillary abnormalities after DC (OR: 8.141; 95% CI: 2.117–31.307; P = 0.002) were identified as independent risk factors for the development of RDEDH after DC. The average length of hospitalization in the RDEDH group was significantly longer than that in the non-RDEDH group (P = 0.018). The Glasgow Outcome Scale score at 6 months in the RDEDH group was significantly lower than that in the non-RDEDH group (P = 0.01). The incidence of poor prognosis in the RDEDH group (80.6%) was significantly higher than that in the non-RDEDH group (59.8%; P = 0.017). Conclusion: Preoperative bilateral pupillary dilation, intraoperative brain swelling, and pupillary abnormalities after surgery were independent risk factors for the development of RDEDH after DC in patients with TBI. The occurrence of RDEDH in patients with TBI after DC did not significantly increase mortality, it was associated with a prolonged length of stay and an increased incidence of poor prognosis.

Treatment of primary esophageal lymphomas: A review

Primary esophageal lymphoma is a rare malignancy that is difficult to diagnose and treat. While there have been significant advances in understanding the pathogenesis, clinical features, and treatment options, there is a lack of consensus on the most effective treatment approach. This literature review provides a comprehensive overview of the use of available treatment options for primary esophageal lymphoma, including surgery, radiotherapy, and chemotherapy. The review also highlights the current knowledge gaps that need to be addressed through further research. While no single treatment modality has emerged as a clear front-runner, a combination of these treatments may be the most effective approach in managing primary esophageal lymphoma, tailored to the histological subtypes.

Evaluation of the LDBio ICT IgG/IgM lateral flow assay versus the Bordier Elisa assay for the diagnosis of chronic pulmonary aspergillosis in Nigeria.

The detection of anti-Aspergillus antibodies is key for diagnosing chronic pulmonary aspergillosis (CPA). Available techniques are limited and pose a considerable challenge in resource-limited settings. The objective of this study was to evaluate the performance of the point-of-care test LDBio ICT IgG/IgM lateral flow assay (LDBio) versus that of the Bordier Elisa assay in a field study in Nigeria. Of the 97 serum samples tested in the CPA patient group, 71 tested positive by the LDBio assay with 69.4% sensitivity. In the non-CPA group, 286 of the 289 sera tested negative by the LDBio assay with 98.7% specificity. The Bordier test was positive for 97 of the 97 CPA serum samples tested, showing 100% sensitivity, significantly different from the LDBio test in detecting Aspergillus antibodies (P < 0.0001). However, there was no significant difference in the specificity between the two tests (P = 0.617). The results were in agreement for 353 of the 386 samples tested (91.5%), with a Cohen's kappa coefficient of 0.75, indicating substantial agreement between the LDBio and Bordier test results. The LDBio lateral flow assay (LFA) test is a simple and rapid point-of-care test that can be used in field studies in which the Elisa test is not available. The lower sensitivity of the LDBio LFA in our field study could have been due to A. fumigatus being the species involved in only 50%-60% of cases in Nigeria, with A. flavus being more frequent than in Northern countries.IMPORTANCEAvailable techniques for the detection of Aspergillus IgG are limited and pose a considerable challenge in resource-limited settings in terms of affordability, skilled personnel, equipment, and a regular power supply. A point-of-care test would address most of these challenges. The LDBio lateral flow assay (LFA) test is a simple and rapid point-of-care test that can be used in field studies in which the Elisa test is not available. When combined with clinical features, the LFA can be used as a screening tool for chronic pulmonary aspergillosis in settings such as ours; however, a lower sensitivity was observed compared to the Elisa.

Long-Term Coronary Artery Complications Following the Arterial Switch Operation for Transposition of the Great Arteries-A Scoping Review.

Coronary artery complications following the arterial switch operation (ASO) for transposition of the great arteries have become increasingly relevant as those affected are exposed to the comorbidities of later years. A scoping review was undertaken to explore the incidence, clinical features, and management of the long-term coronary complications after the ASO. The selection criteria yielded 73 articles They recorded few long-term coronary artery complications following the ASO, which were difficult to recognize as most affected patients' symptoms were absent or nonspecific. In patients with suspected coronary artery involvement, coronary angiography or computed tomography provided confirmation, with significant stenosis generally managed by percutaneous trans-catheter interventions.

An Easy and Quick Risk-Stratified Early Forewarning Model for Septic Shock in the Intensive Care Unit: Development, Validation, and Interpretation Study

Background Septic shock (SS) is a syndrome with high mortality. Early forewarning and diagnosis of SS, which are critical in reducing mortality, are still challenging in clinical management. Objective We propose a simple and fast risk-stratified forewarning model for SS to help physicians recognize patients in time. Moreover, further insights can be gained from the application of the model to improve our understanding of SS. Methods A total of 5125 patients with sepsis from the Medical Information Mart for Intensive Care-IV (MIMIC-IV) database were divided into training, validation, and test sets. In addition, 2180 patients with sepsis from the eICU Collaborative Research Database (eICU) were used as an external validation set. We developed a simplified risk-stratified early forewarning model for SS based on the weight of evidence and logistic regression, which was compared with multi-feature complex models, and clinical characteristics among risk groups were evaluated. Results Using only vital signs and rapid arterial blood gas test features according to feature importance, we constructed the Septic Shock Risk Predictor (SORP), with an area under the curve (AUC) of 0.9458 in the test set, which is only slightly lower than that of the optimal multi-feature complex model (0.9651). A median forewarning time of 13 hours was calculated for SS patients. 4 distinct risk groups (high, medium, low, and ultralow) were identified by the SORP 6 hours before onset, and the incidence rates of SS in the 4 risk groups in the postonset interval were 88.6% (433/489), 34.5% (262/760), 2.5% (67/2707), and 0.3% (4/1301), respectively. The severity increased significantly with increasing risk in both clinical features and survival. Clustering analysis demonstrated a high similarity of pathophysiological characteristics between the high-risk patients without SS diagnosis (NS_HR) and the SS patients, while a significantly worse overall survival was shown in NS_HR patients. On further exploring the characteristics of the treatment and comorbidities of the NS_HR group, these patients demonstrated a significantly higher incidence of mean blood pressure &lt;65 mmHg, significantly lower vasopressor use and infused volume, and more severe renal dysfunction. The above findings were further validated by multicenter eICU data. Conclusions The SORP demonstrated accurate forewarning and a reliable risk stratification capability. Among patients forewarned as high risk, similar pathophysiological phenotypes and high mortality were observed in both those subsequently diagnosed as having SS and those without such a diagnosis. NS_HR patients, overlooked by the Sepsis-3 definition, may provide further insights into the pathophysiological processes of SS onset and help to complement its diagnosis and precise management. The importance of precise fluid resuscitation management in SS patients with renal dysfunction is further highlighted. For convenience, an online service for the SORP has been provided.

Thyroid autoantibodies in paediatric thyroid eye disease patients in an Australian population

ABSTRACT Purpose This study presents the clinical features and management of paediatric TED patients in an Australian population, together with the longitudinal trend of TRAb and TSI over time. Methods A retrospective case series study was conducted on patients with paediatric TED between 2003 and 2023. A comprehensive dataset was collected and analysed for each case, encompassing patient demographics, clinical features and management of their TED, as well as their thyroid antibody levels over the study period. Results Thirty-four patients were included, with a female preponderance. The age at diagnosis of thyroid dysfunction (mean age 12.1 years, range 3–17 years, SD ± 3.6 years) tended to slightly precede the age at diagnosis of TED (mean age 12.7 years, range 3–17 years, SD ± 3.59 years). The most common main TED symptom at presentation was prominent eyes in 25 patients (73.5%), and the most common presenting sign of TED was proptosis in 32 patients (94%). No patients had dysthyroid optic neuropathy. The majority (88%) of our paediatric TED patients had mild disease with a mean presenting VISA score of 1.76, and a CAS score of 1.71. During the follow up period, the average peak TRAb reached 44.2 IU/L (SD ± 96.94 IU/L), and over an average time period of 42.4 months, the most recent average TRAb level settled to 6.6 IU/L (SD ± 7.76 IU/L). The TSI levels also followed a downward trend over time. Conclusions Paediatric TED is rarer than adult TED with milder clinical presentations. TRAb and TSI levels in paediatric TED patients tend to follow the disease course, with a downward trend over time.

Unwinding of Continuous Medicaid Coverage Among Pediatric Community Health Center Patients.

During the COVID-19 pandemic public health emergency, states provided continuous Medicaid coverage to enrollees. In April 2023, states began to unwind this continuous coverage, prompting concern about the impact of this on pediatric patients. To examine loss of coverage during the unwinding of continuous Medicaid coverage among pediatric patients seen at community-based health care organizations. This cohort study with statistical analysis in November 2024 included pediatric patients from a multistate network of community-based health care organizations. Participants were aged up to 17 years at both their last Medicaid-insured visit during the continuous coverage period and at their first visit during the unwinding period (April 1, 2023, to March 31, 2024). Age, sex, race and ethnicity, language, and medical complexity. The main outcome was Medicaid disenrollment to uninsured status during the unwinding period. Logistic regression was used to estimate the odds of ever being uninsured during unwinding, and Cox proportional hazards regression models were used to examine the time to uninsured status from the start of unwinding in each patient's state of residence through the end of March 2024. Associations between age, sex, race and ethnicity, language, and medical complexity and the outcome were assessed. Among 450 146 pediatric patients, mean (SD) patient age was 8.11 (5.07) years and 50.1% were male. Overall, 8.7% were disenrolled from Medicaid to uninsured status. Patients aged 12 to 17 years had the highest estimated disenrollment among age groups (10.5%), but after adjustment, all other age groups had lower odds of disenrollment compared with those younger than 1 year. Females had higher odds of disenrollment (adjusted odds ratio [AOR], 1.15 [95% CI, 1.13-1.18]; adjusted hazard ratio [AHR], 1.14 [95% CI, 1.12-1.17]) than males. American Indian or Alaska Native patients had higher odds of disenrollment (AOR, 1.95 [95% CI, 1.81-2.09]; AHR, 1.81 [95% CI, 1.05-3.13]) than White patients, with estimated disenrollment of 17.1% vs 9.4%. Compared with patients with low medical complexity, those with either chronic but noncomplex (AOR, 1.83 [95% CI, 1.79-1.88]; AHR, 1.80 [95% CI, 1.44-2.27]) or complex chronic (AOR, 1.95 95% CI, 1.89-2.00]; AHR, 1.92 [95% CI, 1.67-2.21]) medical complexity had higher odds of disenrollment. In this cohort study of previously Medicaid-insured pediatric patients seen at community-based health care organizations, a meaningful proportion of patients were disenrolled to uninsured status during the unwinding of continuous Medicaid coverage, with associated differences by demographic and clinical characteristics. This could impact access to care and health outcomes for the patients.

International overview on juvenile-, adult- and elderly-onset rheumatoid arthritis: The age at disease onset as a fundamental determinant of clinical presentation.

Elderly-onset rheumatoid arthritis (EORA) may have peculiar findings compared to juvenile-onset RA (JORA). The aim of the work was to present and compare the clinical characteristics of RA patients with JORA and elderly-onset EORA to a group of cases with adult-onset (AORA) and to contrast the findings worldwide. The study included 1100 adult RA patients: 209 JORA and 329 EORA, compared with 562 AORA extracted from a big data national study on 10,364 RA patients. Clinical characteristics, laboratory investigations, medications received, and co-morbidities were recorded. The disease activity index (DAS28) and health assessment questionnaire (HAQ) were estimated. The JORA cases represented 19% and EORA 29.9% of the included cohort. The mean age at onset for JORA, EORA, and AORA were 15.1 ± 2.1, 64 ± 4.2, and 36.4 ± 10years (p < 0.0001), and the female-male ratio was 6.2:1, 2.7:1, and 7.3:1 (p < 0.0001), respectively. In EORA, body mass index (28.8 ± 5.8) and frequencies of smokers (11.6%), diabetes (12.2%), hypertension (19.8%), and osteoporosis (5.2%) were significantly higher than in JORA (26.02 ± 5; 5.3%, 2.9%, 3.8%, and 1%) and AORA (27.6 ± 5.6; 3%, 8.4%, 14.9%, and 2.3%, p = 0.016) (p < 0.0001, p = 0.001, p < 0.0001, and p = 0.009, respectively). In JORA, oral ulcers were significantly more frequent (p = 0.04); in EORA, cardiovascular manifestations (p < 0.0001) and hypothyroidism (p = 0.039) were more frequent; and DAS28 (p = 0.01) and HAQ (p = 0.038) were higher. Fibromyalgia and methotrexate administration were significantly more frequent in AORA (p < 0.0001 and p = 0.04, respectively). Rheumatoid factor, anti-cyclic citrullinated peptide, and double seropositivity were significantly more frequent in EORA (p < 0.0001, p = 0.008, and p = 0.002, respectively). Comorbidities, cardiovascular manifestations, hypothyroidism, higher disease activity, and functional disability are more common in EORA patients. Key Points •Juvenile-onset and elderly-onset RA patients have notable differences compared to the adult-onset cases. •Co-morbidities and certain manifestations, including cardiovascular disease and hypothyroidism, as well as higher disease activity and functional disability, are more common in elderly-onset patients. •Fibromyalgia remains more frequent in adult-onset cases.

Factors determining primary or delayed surgery for unilateral, non-metastatic Wilms tumor: a multicentric Egyptian study

BackgroundThere is no consensus on the initial treatment modality for unilateral Wilms tumor (WT) in Egypt. This multicenter study investigates the factors guiding the decision-making between primary surgery and delayed resection for this tumor in our clinical practice. A retrospective analysis was conducted on all patients with unilateral, non-metastatic WT treated at four major Egyptian institutions from January 2019 to January 2024. Clinical characteristics, management details, and outcomes were reviewed. Timing of nephrectomy was analyzed in relation to tumor characteristics such as size, midline crossing, suspicion of perinephric spread, intravascular extension, and retroperitoneal lymphadenopathy.ResultsThe study included 112 patients with a median age of 2.8 years. The median largest tumor diameter was 12 cm (range, 7–16 cm). Primary nephrectomy was performed in 62 patients (55.4%), while 50 (44.6%) underwent delayed resection after biopsy and neoadjuvant chemotherapy. Tumors larger than 12 cm and tumors crossing the midline were reported in 38.5% and 35% of all patients, respectively. Suspicion of perinephric spread was noted in 31% of patients, and significant lymphadenopathy in 13.5%. Intravascular tumor thrombus was detected in 7 patients (6.25%) at various locations. Statistically significant differences were observed between the primary surgery and delayed resection groups regarding suspicion of perinephric spread, intravascular thrombus, and retroperitoneal lymphadenopathy (p-value < 0.001, 0.002, and < 0.001, respectively). However, tumor diameter and midline crossing showed no significant differences (p-value = 0.137 and 0.152, respectively). At a median follow-up of 37 months, seven patients experienced relapses, and six died. The 3-year overall and event-free survival for all patients were 91% and 89%, respectively.ConclusionsIn our study, tumors larger than 12 cm and/or crossing the midline, if without other risk factors, did not significantly influence the decision for primary nephrectomy in unilateral, non-metastatic WT. However, suspicion of perinephric spread, intravascular thrombus (even at the level of renal veins), and evident retroperitoneal adenopathy were crucial factors in choosing delayed resection.

Increased fluid accumulation, reduced physical activity and heart rate variability during national holidays in patients with cardiac implantable electronic devices.

The higher incidence of myocardial infarction during national holidays could be caused by overindulgence of food and beverages, potentially straining the heart of vulnerable individuals. Monitoring decreased thoracic impedance by cardiac implantable electronic devices (CIED) can be used for detection of fluid accumulation. We aimed to assess the relationship between cardiac metrics and national holidays in patients with CIED. Patients with CIED-based impedance monitoring at a tertiary care hospital in Sweden were screened. Patients were included if they had data for at least one holiday (Christmas, New Year or Midsummer) between June 2015 and January 2020. Thoracic impedance, heart rate variability and activity during the holiday were compared with baseline values, defined as the average of three days preceding Christmas and Midsummer. Clinical characteristics were obtained from medical records. In total, 96 patients (82 % men, age 69±10 years, 92 % ICD, 78 % CRT, 72 % with LVEF<40%) were included, which provided data for 649 patient-holidays. During Christmas Day, New Years Day and Midsummer Day combined, impedance decreased by a mean of 1.1 Ohm [95% CI 0.7-1.6, p< 0.001], heart rate variability decreased by a mean of 8.0 ms [4.9-11.2, p >0.001] and daily activity by a mean of 40 minutes [35-45, p<0.001]. One ventricular tachycardia event requiring shock therapy was documented during the holiday. A transient decrease in thoracic impedance, heart rate variability and physical activity was observed during national holidays, potentially contributing to the higher incidence of myocardial infarction during holidays.

Clinical characteristics and prognosis of amyopathic dermatomyositis patients with interstitial lung disease: insights from a retrospective cohort

Abstract Introduction The diagnosis of amyopathic dermatomyositis with interstitial lung disease (ADM-ILD) is challenging due to the lack of typical skin features and overlapping syndromes. We aimed to determine the characteristics and prognosis of patients with ADM-ILD to further guide their clinical management. Methods A retrospective cohort study comprising 190 Chinese patients diagnosed with interstitial lung disease (ILD) was conducted. Patients were stratified into four groups using the Sontheimer criteria and predominant high-resolution computed tomography (HRCT) patterns. Demographic features, clinical presentation, laboratory parameters, duration of ILD, and follow-up data were analysed. Results There were significant differences in the clinical parameters among the 190 patients with ILD in the amyopathic dermatomyositis (ADM, n = 69) and control (n = 121) groups. The ADM with nonspecific interstitial pneumonia (NSIP) group (n = 46) presented increased haemoglobin (125.93 ± 12.91 g/L, p = 0.005), creatine kinase-MB (15.19 ± 8.58 U/L, p &lt; 0.001), and partial pressure of oxygen (93.08 ± 26.20 mmHg, p = 0.003) levels and decreased β2-microglobulin (2.61 ± 1.21 mg/L, p = 0.039) levels compared to the control-NSIP group (n = 92). The ADM with organizing pneumonia (OP) group (n = 23) had a greater percentage of females (7/16, p = 0.023) and higher alanine aminotransferase (30.30 ± 20.67 U/L, p = 0.039) and aspartate aminotransferase (53.35 ± 65.86 U/L, p = 0.003) levels than the control-OP group (n = 29). Both the ADM-NSIP and OP groups presented elevated lactate dehydrogenase (LDH) levels (290.61 ± 86.49 U/L, p = 0.009; 317.35 ± 181.32 U/L, p = 0.003, respectively) and increased anti-nuclear antibody (ANA) positivity rates (82.61%, p = 0.01; 73.91%, p &lt; 0.001, respectively). Notably, 81.26% of patients with ADM-NSIP/OP had LDH levels above normal. The serum LDH levels could be used to distinguish patients with ADM-NSIP/OP (sensitivity: 73.91%, specificity: 82.64%). Survival was shorter among patients with ADM-OP than among control patients (p = 0.002). Cox multivariate analysis revealed that age (p = 0.002), smoking status (p = 0.011), anti-melanoma differentiation-associated gene 5 (MDA5) antibody (p = 0.017), and white blood cell count (p = 0.004) were independent predictors of shorter survival. Conclusions Elevated serum LDH levels in patients predominantly presenting with NSIP or OP patterns may indicate the presence of ADM-ILD. The identified prognostic factors underscore the importance of early detection and personalized management strategies for optimizing outcomes in patients with ADM-ILD.

Mapping Longitudinal Psychiatric Signatures in Huntington's Disease.

Although Huntington's disease is characterized by motor onset, psychiatric disturbances may present years prior and affect functioning. However, there is inter-individual variability in psychiatric expression and progression. This study therefore strives to stratify longitudinal psychiatric signatures that may inform Huntington's disease prognosis, with potential clinical applications. Forty-six Huntington's disease gene carriers (21 premanifest, 25 manifest; 31 female; age range 25-69) underwent short-Problem Behavior Assessment for depression, irritability, apathy, and dysexecutive behaviors for up to six longitudinal visits. The Disease Trajectories software, a machine-learning approach, was employed to perform unsupervised clustering of psychiatric trajectories. Linear fits were calculated for each cluster. Lastly, the main clusters of shared trajectories were assessed for group differences in demographic and clinical characteristics. The Disease Trajectories analysis software identified two main psychiatric patterns comprising premanifest and manifest patients that explained 54% of the sample. These two clusters evinced a dissociation in the development of depression and irritability; the first cluster was defined by increasing irritability with no depression and the second by a rise-and-fall in depression with no irritability. Both clusters showed a longitudinal increase in clinically relevant apathy and dysexecutive behaviors. Ultimately, through the detection of individual-level psychiatric trajectories with machine-learning, this exploratory study reveals that a dissociation of depression and irritability is apparent even in premanifest stages. These findings underscore individual differences in the severity of longitudinal multivariate clinical characteristics for real-world patient stratification, with implications for precision medicine.

From Liking to Following: The Role of Food Preferences, Taste Perception, and Lifestyle Factors in Adherence to the Mediterranean Diet Among Young Individuals

Background and aims: The Mediterranean diet (MedDiet) is a healthy dietary pattern associated with reduced risk of chronic diseases. However, adherence is declining, particularly among younger populations. Therefore, it is crucial to identify the main aspects that affect its adherence, particularly food preferences and sensory function, which have received insufficient attention. Our aims were to investigate the impact of socio-demographic and lifestyle factors on adherence to the MedDiet among young individuals; to assess the association of taste preferences and food liking with MedDiet adherence; and to evaluate the associations between taste perception modalities, taste and food preferences, and adherence. Methods: A cross-sectional study on young adults (aged 20.5 ± 4.7 years) in a Mediterranean country (n = 879) was carried out. Demographic characteristics, clinical characteristics, anthropometric characteristics, lifestyle characteristics, MedDiet adherence, taste preferences, and food preferences were assessed. Taste perception for bitter, salty, sweet, sour, and umami was determined by rating different concentrations of prototypical tastants. We computed a total taste perception score and three scores to combine food preferences. Results: We identified several socio-demographic and lifestyle factors associated with adherence to the MedDiet, as well as food preferences, taste preferences, and taste perception determinants. Food preferences were significantly associated with total adherence to the MedDiet. Higher preference for olive oil, oranges, broccoli, fish, and legumes was associated with higher MedDiet adherence (p &lt; 0.05 for all). Conversely, higher preference for sweet foods, red meat, and butter was associated with lower adherence (p &lt; 0.05 for all). The combined positive score for food preference was strongly associated with higher MedDiet adherence (p = 1.4 × 10−23) in the multivariate adjusted model. The combined negative food preference score was inversely associated (p = 1.9 × 10−8). Likewise, taste preferences were significantly associated with adherence to the MedDiet (strong inverse association for sweet taste preference and direct association for bitter taste preference; both p &lt; 0.001). Moreover, bitter taste perception was inversely associated with adherence to the MedDiet and with bitter foods (p &lt; 0.05). In conclusion, future precision nutrition studies should measure food liking and taste preferences, which are crucial determinants of MedDiet adherence, especially in young people.

Exploring the location patterns and clinical characteristics of isolated simple renal cysts: insights from a multicenter retrospective study.

Surgical decisions for simple renal cysts (SRCs) depend on symptoms and compression of the renal collecting system. This study investigated the relationship between cyst location and patient clinical characteristics, offering insights into personalized management and surgical intervention. This study investigated hospitalized isolated SRCs patients, excluding those with renal cancer or unknown cyst sizes. Isolated SRCs were defined as a single large cyst in either kidney, accompanied by less than three additional cysts < 1cm. Patients with two or more cysts ≥ 1cm were excluded. Complete clinical data, including cyst location and compression effects, were required for inclusion. Ethical approval was obtained. This study included 1,093 cases of isolated SRCs: extracalyceal cysts (780 patients), parapelvic cysts (158 patients), cysts above renal pelvis (78 patients), and cysts below renal pelvis (77 patients). Patients with parapelvic cysts had a greater incidence of symptoms (77.85% vs. 57.56%, 61.54%, 53.25%). Parapelvic cysts (72.15%) and cysts below the renal pelvis (88.31%) had a higher risk of collecting system compression risk than extracalyceal cysts (47.69%) and cysts above the renal pelvis (60.26%). The combined risk of hydronephrosis was higher in parapelvic cysts (46.03%) and cysts below the renal pelvis (44.44%) than in extracalyceal cysts (8.96%) and cysts above the renal pelvis (0.00%). Cox regression analysis revealed that cyst size at diagnosis (p < 0.001) and the presence of parapelvic cysts (p < 0.001) independently contributed to symptomatic risk. Cyst size at diagnosis (p < 0.001), parapelvic cysts (p < 0.001), and cysts below the renal pelvis (p < 0.001) were independent predictors of hydronephrosis in patients with SRCs. SRCs in different kidney locations have unique features, necessitating tailored management. Cysts size at diagnosis and the presence of parapelvic cysts independently contribute to the symptoms of patients with SRCs. Parapelvic cysts and cysts below the renal pelvis are independent risk factors for hydronephrosis and should be actively managed.