History Of Disease Research Articles

Left ventricular wall thickness discrepancies at end-diastole and mid-diastole: Reference values for cardiac CT.

To investigate differences in left ventricular wall thickness (LVWT) measurements between end-diastole and mid-diastole using cardiac computed tomography (CCT) and establish LVWT reference values stratified by phase, sex, and region. Subjects who underwent CCT without a history of cardiovascular disease or risk factors were retrospectively included between 2021 and 2024. LVWT was manually measured in each segment according to the American Heart Association's 17-segment model at end-diastole and mid-diastole. Regional LVWT was calculated as the average value of relevant segments. The study included 187 subjects with a mean age of 51±11years, including 77 (41%) men. Global LVWT was lower at end-diastole than at mid-diastole (5.7±0.8 vs. 6.5±0.9mm, P<0.001). Each segmental LVWT correlated significantly between end-diastole and mid-diastole (Pearson's correlation coefficient: 0.79-0.87). Segment 2 was thickest (8.1±1.5mm at end-diastole and 9.1±1.7mm at mid-diastole). LVWT was greater in men than in women (all P<0.001). The upper limits of LVWT were 9.9mm for women and 11.7mm for men at end-diastole, and 11.8mm for women and 13.1mm for men at mid-diastole. LVWT progressively thinned from the base to the apex. Apical LVWT measured on short-axis and long-axis showed a small but statistically significant difference, particularly in Segment 16. This study provides CCT reference values for LVWT at end-diastole and mid-diastole. Mid-diastolic LVWT was slightly greater than end-diastolic LVWT, with a statistically significant difference. Normal LVWT was greater in men than in women, with regional variations observed in both phases.

Noah Webster's A Brief History of Epidemics and Pestilential Diseases: A Review of His Book With Lessons for Today.

Noah Webster's A Brief History of Epidemics and Pestilential Diseases: A Review of His Book With Lessons for Today.

Non-cancer-related deaths in patients with resectable locally advanced esophageal squamous cell carcinoma: A supplementary analysis of JCOG1109.

434 Background: Neoadjuvant docetaxel, cisplatin, and 5-FU (DCF) has become the standard treatment for resectable locally advanced esophageal squamous cell carcinoma (LA-ESCC) in Japan, based on the result of JCOG1109. In this study, more non-cancer-related deaths were observed in the cisplatin, and 5-FU (CF) plus radiotherapy (CF-RT) arm compared to the CF and DCF arm. However, the details of these non-cancer-related deaths remain unclear. We aimed to evaluate the influence of neoadjuvant therapies on non-cancer-related deaths using the data from JCOG1109. Methods: We analyzed patients' characteristics, classification, time of onset, risk factors associated with onset, and cumulative incidences in patients with non-cancer-related deaths. Cumulative incidences of non-cancer-related deaths in each arm were estimated, considering cancer-related deaths as a competing risk. Risk factors were explored using multivariable Fine-Gray model with Firth penalization. Results: Among 601 enrolled patients, 164 in the CF arm, 169 in the DCF arm, and 173 in the CF-RT arm were completed the surgery. Of those, non-cancer-related deaths were observed in 19 (12%), 12 (7%), and 32 (18%) patients, respectively. Patient characteristics of non-cancer-related deaths in the CF/DCF/CF-RT arm were as follows: male, 89/92/88%; median age, 69/69/69 years old; ECOG PS 0, 89/100/97%; lower thoracic esophagus, 21/25/19%; previous history of ischemic disease of heart, 5/0/0%; brain, 0/0/0%; other malignancies, 5/8/0%; comorbidity of hypertension, 26/25/47%; COPD, 0/8/3%; thoracoscopic approach, 37/42/38%. The median follow-up time was 5.7 years (range, 0.3-10.4 years). The causes of non-cancer-related deaths in the CF/DCF/CF-RT arm were pulmonary, 4 (21%)/1 (8%)/10 (31%); cardiovascular, 1 (6%)/0/2 (6%); infectious, 2 (11%)/1 (8%)/3 (9%); other malignancy, 2 (11%)/3 (25%)/5 (16%); treatment-related, 0/1 (8%)/1 (3%), and the median time from surgery to onset of non-cancer-related death was 3.3/3.8/4.3 years, respectively. Cumulative incidences of non-cancer-related deaths after 3, 6, 9 years in the CF/DCF/CF-RT arm were 4.9/3.0/7.0%, 10.7/6.1/15.6%, 12.4/8.8/26.1%, respectively. In multivariable analyses, ≥ 65 years old (hazard ratio [HR]: 3.243, 95% confidential interval [CI]: 1.797–5.852, vs. &lt; 65 years old), ECOG PS 0 (HR: 3.579, 95% CI: 1.148–11.162, vs. PS 1), and serum CRP ≥ 1.0 mg/dl (HR: 2.238, 95% CI: 1.003–4.995, vs. &lt;1.0 mg/dl) were significantly associated with the onset of non-cancer-related deaths. Whereas the CF-RT arm was not significantly associated (HR: 1.600, 95% CI: 0.885–2.892, P = 0.12, vs. CF). Conclusions: The incidence of non-cancer-related deaths was relatively higher in the CF-RT arm, and pulmonary-related complications tended to be a particularly common cause of death.

Skin tactile perception is associated with longitudinal gait performance in middle-aged and older Japanese community dwellers.

Skin tactile perception may indicate frailty in older adults. Although gait performance is crucial for diagnosing frailty, its association with skin tactile perception has not yet been explored. To examine the association between skin tactile perception and changes in step length, cadence, and gait speed in middle-aged and older adults. A longitudinal study (mean follow-up: 10.8 years) SETTING: Community-based survey PARTICIPANTS: A total of 1,403 middle-aged and older adults (aged 40-79 years, 53.6 % men) from the National Institute for Longevity Sciences-Longitudinal Study of Aging were included in this study. These participants completed the baseline survey (1997-2000) and at least two follow-up surveys (2000-2012), had no history of cerebrovascular disease, rheumatoid arthritis, or Parkinson's disease, and had complete data with no outliers in skin tactile perception measurements. Skin tactile perception was assessed using a two-point discrimination test. Step length (cm), cadence (steps/min), and gait speed (m/min) were evaluated on an 11-m walkway at a usual speed. The mean age of participants was 56.4 years. After full adjustment, mixed-effects models with splines revealed that the association between skin tactile perception and gait parameters varied with age. In adults aged 60 and above, we observed non-linear relationships between skin tactile perception and gait parameters. A consistent inflection point around 10 mm in tactile perception was identified across different age groups and gait parameters. Among community-dwelling middle-aged and older Japanese adults, skin tactile perception was associated with changes in gait parameters, particularly in those aged 60 and above. The 10-mm threshold in tactile perception may serve as a critical indicator for predicting changes in gait performance. Skin tactile perception tests may prove clinically useful for screening patients at elevated risk of impaired gait performance.

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis. A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.4mm) and high Down syndrome risk in the first-trimester screen. Both parents were healthy and had no known family history of hereditary diseases. Genetic counselling and amniocentesis at 16weeks revealed a segmental gain on chromosome 1p31.1 of uncertain significance, ruling out aneuploidies of chromosomes 21, 18, and 13. Later scans suggested fetal akinesia deformation sequence (FADS) with limited limb movement. Whole exome sequencing confirmed DA5D due to a novel ECEL1 5' splice site variant (c.2151+2T>A) inherited autosomally recessive. The couple chose pregnancy termination, with an autopsy confirming DA5D. This case expands the mutational spectrum of prenatal ECEL1 gene using whole exome sequencing (WES) for fetal joint disorders, potentially helping in parental counselling and clinical decision-making.

BDNF expression mediates verbal learning and memory in women in a cohort enriched with risk for Alzheimer's disease.

This study examined whether sex differences in verbal learning and memory (VLM) are mediated by plasma brain-derived neurotrophic factor (BDNF) expression. In a sample of n=201 participants (63.81±6.04 years, 66.2% female, 65.7% family history of Alzheimer's disease [AD], 38% apolipoprotein E [APOE] ε4+) from the Wisconsin Registry for Alzheimer's Prevention, VLM was measured using trials 3 through 5 and delayed recall from the Rey Auditory Verbal Learning Test. Plasma BDNF was measured using a Human BDNF Quantikine Immunoassay. Mediation analysis used bootstrapping, and stratified mediation models tested the conditional dependence of APOE ε4 carriage. BDNF partially mediated the sex-VLM relationship (β=-0.07; 95% confidence interval [CI]: -0.18, -0.01). Female APOE ε4 carriers had higher VLM scores (β=-0.53; p=0.03), while female non-carriers had both higher BDNF levels (β=-0.68; p<0.01) and VLM scores (β=-1.06; p<0.01); BDNF was again a significant mediator (β=-0.18; 95% CI: -0.37, -0.05). This study found that circulating BDNF mediates higher verbal memory scores in females-particularly in APOE ε4 non-carriers. Sex differences in verbal learning and memory (VLM) were mediated by plasma brain-derived neurotrophic factor (BDNF) levels.Women exhibited higher VLM scores and plasma BDNF levels compared to men.The protective effect of BDNF in women was attenuated by apolipoprotein E ε4 carriage.Findings suggest sex-specific mechanisms against verbal memory decline in aging.

Effect of Family History of Aortic Disease on Outcomes of Fenestrated and Branched Endovascular Aneurysm Repair of Complex Aortic Aneurysms

Effect of Family History of Aortic Disease on Outcomes of Fenestrated and Branched Endovascular Aneurysm Repair of Complex Aortic Aneurysms

Acute-on-Chronic Inflammation and Patients' Risk for Renal Support in Critically Ill Patients.

Hypertension (HTN) and heart failure (HF) can chronically activate the renin-angiotensin-aldosterone system, a mechanism designed to maintain hemodynamic stability by reabsorption of water and electrolytes. Additionally, this system activates the sympathetic nervous system to increase vagal tone. When these patients face acute illness requiring hospitalization, the acute stressor or pathogen also activates the sympathetic nervous system. The combination of activation of both systems puts patients at increased risk of organ failure, specifically renal failure. With early recognition of renal insult, organ damage can be reversed. C-reactive protein (CRP) and D-dimer are commonly used to measure acute inflammation. These biomarkers can alert critical care nurses to excessive inflammation in patients with underlying HTN and HF, enabling nurses to make informed decisions to intervene at the earliest sign of renal failure. This retrospective study of adult SARS-CoV-2 patients in an intensive care unit setting sought to examine the relationship of CRP, D-dimer, and the need for eventual renal support in patients with HF and HTN. Of the sample (n+189), mean age was 62 (SD=14.0), and most (70.9%) were male. Thirty-nine patients (20.6%) required renal support. Of the cases requiring renal support, 21 (53.8%) had a history of prior renal disease (P <0.001, r =0.351). History of HTN was significantly correlated with requirement for renal support (P =0.010, r =0.187). D-dimer (P =0.038, η=1.0) and CRP (P =0.018, η=0.924) were also significant. Survival was significantly worse in the renal support group (P <0.001, r =-0.310). D-dimer and CRP were correlated with more severe illness and need for renal support. Study findings have implications for future validation research of chronic inflammation and risk for renal support during acute severe illness.

Nonsurgical Treatment of Splenic Abscesses in Patient With Simultaneous Diagnosis of Endocarditis and Crohn's Disease: A Case Report and Literature Review.

The spleen is one site for septic emboli in cases of IE but in patients with splenic abscess when the patient has a suspicious history of autoimmune diseases, splenic aseptic abscess must be ruled out before splenectomy.

Coronary artery dominance influences the distribution of calcified plaques in the coronary tree.

Coronary artery dominance is determined by the coronary artery emitting the posterior descending artery. In the left dominant system, a greater proportion of coronary flow enters the left coronary artery, potentially influencing calcified plaque development in the left anterior descending artery (LAD). This retrospective single-center cohort study analyzed patients who underwent computed tomography angiography from September 2006 to December 2022 at Harbor-UCLA in Los Angeles, California. Coronary artery calcium (CAC) was quantified for the three coronary vessels. The LAD calcium score was divided by the total calcium score to calculate the LAD calcium percentage, which was compared between left and right dominant coronary systems. Multivariable linear regression assessed the association between LAD calcium percentage and coronary dominance, adjusting for age, gender, BMI, hyperlipidemia, hypertension, family history of cardiovascular disease, and past smoking. Among 9560 subjects, 6766 with CAC greater than zero were enrolled. The average age was 64.8 ± 10.7 years: 68% were male, and 9% had left dominant coronary systems. The median CAC was 51 [0-352] in the right dominant and 49 [0-358] in the left dominant system (P = 0.73). Adjusted analysis revealed that individuals with left dominant coronary systems had a 10.1% higher (CI 7.5-12.8%, P < 0.001) LAD calcium percentage than those with right dominant systems. Although coronary dominance does not influence overall plaque burden of atherosclerosis, it affects calcified plaque distribution. The left dominant system is associated with a higher proportion of calcified plaque in the LAD, potentially heightening the risk of adverse cardiovascular events.

The influence of gender and waist circumference in the association of body fat with cardiometabolic diseases

BackgroundThe link between obesity and cardiometabolic risk has been well recognized. We investigated the association between body fat percentage (BF%), as an appropriate indicator of obesity, and prevalence of cardiometabolic diseases using baseline data of Fasa PERSIAN cohort study.MethodsThe cross-sectional study was performed on data obtained at the first phase of the Fasa cohort study in Iran (n = 4658: M/F: 2154/2504). Anthropometric characteristics, blood pressure, cardiometabolic biomarkers, and body fat content were measured. Information on demographic and lifestyle factors, and history of cardiometabolic diseases (metabolic syndrome, type 2 diabetes, non-alcoholic fatty liver disease (NAFLD), and myocardial infarction) was obtained.ResultsCardiometabolic risk factors (body mass index, waist circumference, blood pressure, blood glucose and lipids) had an inverse association with BF% tertiles in both sexes. Women had a higher BF% and prevalence of metabolic diseases than men, but men demonstrated stronger associations between BF% and cardiometabolic diseases. In both sexes, the association between BF% and metabolic syndrome and NAFLD was stronger than that between BF% and diabetes and myocardial infarction. Addition of waist circumference to the confounders either weakened (for NAFLD and metabolic syndrome) or faded (for type 2 diabetes and myocardial infarction) the relationship of BF% and cardiometabolic diseases.ConclusionStrategies to decrease body fat may be effective in ameliorating the risk of milder metabolic diseases, such as metabolic syndrome, but interventions to decrease abdominal fat (estimated by waist circumference) may be more effective in preventing more serious metabolic disorders such as type 2 diabetes and myocardial infarction.

Psoas muscle gauge and adverse clinical outcomes in patients on hemodialysis.

The relationship between the psoas muscle gauge (PMG), a combined sarcopenia indicator obtained from psoas muscle index (PMI) and psoas muscle density (PMD), and adverse clinical outcomes in patients on hemodialysis remains unclear. We examined whether psoas muscle gauge could predict all-cause mortality and new cardiovascular events more accurately than psoas muscle index in these patients. We retrospectively included 217 hemodialysis patients who underwent abdominal computed tomography. We calculated the psoas muscle gauge (arbitrary unit [AU]) at the fourth lumbar vertebra level as follows: PMI (cm2/m2) × PMD (Hounsfield units). We categorized the patients into higher and lower psoas muscle gauge groups based on sex-specific cutoffs obtained from the young Asian population. The outcomes were death and new cardiovascular events. The psoas muscle gauge cutoffs were set at 231.1 and 328.8 AU in women and men, respectively. Eighty-five deaths and 95 new cardiovascular events occurred during the follow-up period of 4.4 (2.4-7.3) years. The 5-year survival rates were 59.2% and 94.9% in the lower and higher psoas muscle gauge groups, respectively (p < 0.0001). Moreover, after adjusting for sex and age, history of cardiovascular disease, C-reactive protein, modified creatinine index, and geriatric nutritional risk index, lower psoas muscle gauge was independently associated with increased all-cause death and new cardiovascular events (adjusted hazard ratio (aHR) 7.65; 95% confidence interval (CI) 2.37-24.66 and aHR 2.98; 95% CI 1.54-5.75, respectively). Theconcordance index (C-index) for predicting all-cause mortality and new cardiovascular events significantly improved when either psoas muscle index or psoas muscle gauge were added to the baseline risk model. Additionally, the C-index of the psoas muscle gauge-added model was significantly higher than that of the psoas muscle index-added model (0.815 vs. 0.784, p = 0.026) only when predicting all-cause mortality. Psoas muscle gauge accurately predicted the risk of all-cause mortality and new cardiovascular events in patients undergoing hemodialysis. For predicting all-cause mortality, psoas muscle gauge may be recommended compared to psoas muscle index.

Large language models improve the identification of emergency department visits for symptomatic kidney stones

Recent advancements of large language models (LLMs) like generative pre-trained transformer 4 (GPT-4) have generated significant interest among the scientific community. Yet, the potential of these models to be utilized in clinical settings remains largely unexplored. In this study, we investigated the abilities of multiple LLMs and traditional machine learning models to analyze emergency department (ED) reports and determine if the corresponding visits were due to symptomatic kidney stones. Leveraging a dataset of manually annotated ED reports, we developed strategies to enhance LLMs including prompt optimization, zero- and few-shot prompting, fine-tuning, and prompt augmentation. Further, we implemented fairness assessment and bias mitigation methods to investigate the potential disparities by LLMs with respect to race and gender. A clinical expert manually assessed the explanations generated by GPT-4 for its predictions to determine if they were sound, factually correct, unrelated to the input prompt, or potentially harmful. The best results were achieved by GPT-4 (macro-F1 = 0.833, 95% confidence interval [CI] 0.826–0.841) and GPT-3.5 (macro-F1 = 0.796, 95% CI 0.796–0.796). Ablation studies revealed that the initial pre-trained GPT-3.5 model benefits from fine-tuning. Adding demographic information and prior disease history to the prompts allows LLMs to make better decisions. Bias assessment found that GPT-4 exhibited no racial or gender disparities, in contrast to GPT-3.5, which failed to effectively model racial diversity.

Association Between Patient Characteristics and the Depth of Microvascular Penetration Into the Adult Human Meniscus.

Current knowledge on the microvascular anatomy of adult human menisci is based on cadaveric studies. However, considerable interindividual variation in meniscal microvascularization has been reported in recent studies with small sample sizes. To assess the association between patient characteristics and the depth of microvascularization of the meniscus. Descriptive laboratory study. Menisci from 174 patients who received total knee replacement between March 2021 and December 2023 were collected. A total of 174 lateral and 102 medial menisci were included. Three sections were made from each meniscus: the anterior horn, midbody, and posterior horn. Immunohistochemical staining (CD-31) was used to visualize the microvasculature. The 4 primary outcome measures were the correlation between the depth of microvascular penetration into the lateral meniscus (0%-100%) and (1) age, (2) smoking, (3) degree of osteoarthritis, and (4) history of cardiovascular disease. To account for repeated measurements within each patient, a linear mixed-effects model was estimated to study the association between microvascularization and the patient's characteristics previously introduced. The depth of vascular penetration ranged from 0% to 78% into the lateral menisci and from 0% to 67% into the medial menisci. No significant correlations were found between age, smoking, degree of osteoarthritis, or history of cardiovascular disease and the degree of vascular penetration into the lateral meniscus. The linear mixed-effects model analysis, adjusted for location within the meniscus (anterior horn, midbody, or posterior horn) and meniscal side (lateral or medial), showed no significant associations between the same patient characteristics and meniscal microvascularization. The degree of microvascular penetration into the meniscus has a wide range among adults >50 years. However, the depth of microvascularization was not associated with age, smoking, degree of osteoarthritis, or history of cardiovascular disease. Because no associations were found between depth of microvascular penetration into the meniscus and patient characteristics, the latter cannot be used to estimate the vascular status of a meniscal tear in clinical practice.

Relationship Between RNF213 p.R4810K and Echocardiographic Findings in Patients with Cerebrovascular Diseases: A Multicenter Prospective Cohort Study.

RING finger protein 213 (RNF213) p.R4810K is an established risk factor for moyamoya disease and intracranial artery stenosis in East Asian people. Recent evidence suggests its potential association with extracranial cardiovascular diseases, including pulmonary hypertension. We hypothesized that insidious abnormal cardiac functions are detected in RNF213 p.R4810K carriers with cerebrovascular diseases. We investigated patients registered in the National Cerebral and Cardiovascular Center Genome Registry between May 2017 and August 2021 who underwent echocardiography. All patients had cerebrovascular diseases. Patients with a medical history of chronic heart or pulmonary diseases were excluded. RNF213 p.R4810K was genotyped in all the patients. Of 2089 patients registered in the registry, 71 carriers and 1241 noncarriers were eligible for our analyses. The carriage of RNF213 p.R4810K emerged as a significant predictor for longer right ventricular outflow tract acceleration time in multivariable linear regression analysis (β=8.33 [95% CI, 0.92-15.74]; P=0.028). Additionally, the carriers showed increased odds of having right ventricular outflow tract acceleration time values ≥150 milliseconds (odds ratio, 2.22 [95% CI, 1.18-4.18]; P=0.014) in multivariable logistic regression analysis. A longer right ventricular outflow tract acceleration time may reflect an increased pulmonary vascular bed induced by abnormal vascular collateral networks and dilation of capillary vessels in peripheral pulmonary arteries in the preclinical stage of RNF213-related pulmonary hypertension. Thus, the right ventricular outflow tract acceleration time marker in RNF213 p.R4810K carriers suggests a biphasic course from the presymptomatic to symptomatic phase. Furthermore, vascular neurologists should carefully examine multiple organs because RNF213-related vasculopathy covers systemic cardiovascular diseases. URL: https://www.umin.ac.jp; Unique identifier: UMIN000050750.

A Rare Case of Calciphylaxis: A case report

Introduction: Calciphylaxis is a rare and severe disorder characterized by obstructive small vessel disease in the subcutaneous adipose tissue and skin, leading to necrotic skin lesions. The condition poses a significant risk of mortality due to infectious and ischemic complications. Case presentation: We present the case of a 60-year-old woman, with a history of renal lithiasis, hypertension, and end-stage renal disease on hemodialysis complicated by hyperparathyroidism and aortic valve replacement. She developed extensive necrotic lesions on both lower limbs and upper extremities, prompting a diagnosis of calciphylaxis. Radiographic and biopsy findings supported the diagnosis, revealing characteristic calcifications. Treatment involved antibiotics, oral thiosulfate, daily hemodialysis, hyperbaric oxygen therapy, and discontinuation of calcium and alfacalcidol, with alendronate initiation. Unfortunately, despite these interventions, the patient experienced a rapid clinical decline, developing septic shock necessitating bilateral leg amputations. Regrettably, she succumbed to the disease ten days later. Conclusion: This case underscores the challenging prognosis of calciphylaxis and the need for effective therapeutic options, including surgical intervention and access to injectable thiosulfate.

P-56 THE CASE OF SUBACUTE THYROIDITIS IN AN ELDERLY PATIENT MIMICKING MALIGNANCY

Abstract Introduction Subacute thyroiditis is a self-limiting inflammatory thyroid disease characterized by fever, neck pain, and thyroid dysfunction. It typically appears following an upper respiratory tract viral infection. Most cases of subacute thyroiditis are diagnosed through clinical and laboratory testing. The thyroid gland is large, painful, and tender during thyroid examination. Blood tests typically reveal elevated levels of free T4 and free T3, as well as a significantly increased sedimentation rate and C-reactive protein (CRP). Ultrasonographic findings of subacute thyroiditis are well defined. Clinical Case A 68-year-old male was consulted by the anesthesia department before the endoscopy and colonoscopy procedure planned to screen for malignancy. He was very worried and afraid because of the possibility of cancer and was psychologically negatively affected. He presented with night sweats and 10 kg of weight loss in the last 6 weeks. He had no history of previous disease. When a detailed history was taken, he stated that he had severe pain in his neck before his complaints started and that it went away on its own after a few weeks. On examination, he had no fever, a heart rate of 90 beats per minute, and a blood pressure of 120/80 mmHg. Neck examination showed no thyromegaly or lymphadenopathy. The general and systemic examination was unremarkable. Laboratory investigations showed hemoglobin 12.2 g/dL, WBC 8380 (x109/L), erythrocyte sedimentation rate (ESR) 78 mm/hour, CRP 50.1 mg/L, thyroid stimulating hormone 0.08 mIU/L (N = 0.55 – 4.78 mIU/L), free t4 1.4 ng/dL (N = 0.89 – 1.76 ng/dL), free t3 4.34 ng/L (N = 2.3 - 4.2 ng/L), and negative anti-thyroid peroxidase and thyroid stimulating immunglobulin. Thyroid ultrasonography was suggestive for subacute thyroiditis. He was given NSAIDS. Since his free T4 and T3 levels were normal at follow-up, endocrinological approval was given for the planned procedures. It was recommended to have a beta blocker ready during the procedure if needed. No findings in favor of cancer were detected in the detailed examinations, and the weight loss was attributed to subacute thyroiditis. Conclusion When elderly patients have complaints of weight loss or fatigue, it is important to exclude thyrotoxicosis and make a diagnosis by performing the necessary examinations. Subacute thyroiditis may not be severe; it is easy to diagnose with careful history-taking and simple laboratory examinations, and clinicians should keep it in mind in the differential diagnosis of weight loss.

P-20 EARLY ZOLEDRONIC ACID TREATMENT IN A PEDIATRIC CASE OF OSTEOGENESIS IMPERFECTA TYPE V: CLINICAL OUTCOMES AND THE ROLE OF IFITM5 (BRIL) MUTATION

Abstract Introduction Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility, low bone mass, and frequent fractures. OI is typically associated with mutations in the COL1A1 and COL1A2 genes, but a subset of cases, such as OI type V, is linked to mutations in the IFITM5 gene, also known as BRIL (bone-restricted IFITM-like). Clinical Case This report presents a case of a 2-year-old boy diagnosed with OI type V, a rare form of the disease caused by a mutation in BRIL. The patient exhibited multiple recurrent bone fractures beginning in infancy, though there was no family history of bone disease or consanguineous marriage. Physical examination revealed that the patient was of normal weight and height for his age, with neurodevelopmental milestones met. Laboratory tests showed elevated alkaline phosphatase (ALP) levels, indicative of increased bone turnover, while other values were within normal ranges. Radiological evaluations confirmed an active fracture in the left tibia but showed no additional pathological involvement. Genetic testing identified a de novo C&amp;gt;T variant in the IFITM5 gene, confirming the diagnosis of OI type V. The patient was treated with intravenous zoledronic acid (ZA), a bisphosphonate therapy, which is currently being tested in infants and toddlers for OI treatment. The treatment led to a significant reduction in fracture recurrence and a decrease in ALP levels, demonstrating its efficacy in managing the disease. Despite these positive outcomes, certain hallmark features of OI type V, such as hyperplastic callus formation and new periosteal bone growth, were not observed during follow-up, possibly due to the early initiation of ZA therapy. OI type V is distinguished from other forms of OI by hyperplastic callus formation and increased osteoblast activity, often accompanied by elevated ALP levels. Radiographic and histological findings specific to this type include periosteal bone growth and a reticular lamellation pattern in the bone matrix. Although ZA has shown promise in reducing fracture risk and improving clinical outcomes, its long-term efficacy in preventing other disease manifestations, such as intramembranous ossification, remains uncertain. The underlying pathological mechanisms of OI type V, particularly the role of BRIL, are not yet fully understood. Further research into the activation of BRIL in osteoblasts could lead to the development of targeted therapies that address the root cause of the disease. While ZA therapy has been effective in managing the immediate symptoms of OI type V, a deeper understanding of the disease's genetic and molecular basis is crucial for improving long-term treatment outcomes. In conclusion, the IFITM5 (BRIL) mutation is recognized as the genetic cause of OI type V. Early intervention with ZA has shown positive effects in managing the disease, but further research is needed to fully understand the pathological mechanisms and to develop treatments that can address all aspects of the disease.Table 1:Lab workout (age 2)ALP = alkaline phosphatase; AST = aspartate transaminase; BUN = blood urea nitrogen; GGT = gamma-glutamyl transferase; CBC: complete blood count

Influence of strength and power training on the rate of force development, peak force and functional mobility in elderly people with Parkinson's disease: a randomized controlled trial

ObjectiveTo analyze the influence of lower limb muscle strength and muscle power training on rate of force development (RFD) and peak force (PF) in elderly people with Parkinson's disease (PD), as well as the effect of these training sessions influence on the functional mobility (FM) of this population.MethodsThis was a randomized controlled clinical trial and registered on the virtual platform for registration of experimental and non-experimental studies “Registro Brasileiro de Ensaios Clínicos (ReBEC)”. Thirty four elderly people of both genders without and with PD were divided into four groups: strength training control (GSC, n = 8); potency training control (GPC), n = 9; subjects with PD submitted to strength training (GSPD, n = 8); subjects with PD submitted to potency training (GPPD, n = 9). GSC and GPC consisted of with no history of neurological diseases. PF and RFD in the first 50 and 200 milliseconds (ms) were determined. FM was also assessed using the following tests: gait speed test (GS), Timed Up and Go (TUG), Short Physical Performance Battery (SPPB), Unified Parkinson's Disease Rating Scale (UPDRS); parallel feet on a force platform. Next, the participants underwent lower limbs muscle strength or muscle power training for eight consecutive weeks twice a week and were then re-evaluated.ResultsThe repeated measures ANOVA test showed a significant difference for PF, RFD and FM regardless of training type.ConclusionThe proposed muscle strength and muscle power training protocols influenced the increase in RFD, PF and FM of all participants; however, the increase in RFD in the first 200 ms was more pronounced in the groups submitted to power training and the increase in PF was more pronounced in the groups submitted to strength training.

Musculoskeletal symptoms associated with aromatase inhibitors in the treatment of early breast cancer: A scoping review of risk factors and outcomes.

Aromatase inhibitor-associated musculoskeletal symptoms (AIMSS) are the most common adverse effects experienced by breast cancer patients. This scoping review aimed to systematically synthesize the predictors/risk factors and outcomes of AIMSS in patients with early-stage breast cancer. A systematic search was conducted in PubMed, Web of Science, EMBASE, CINAHL, and the China National Knowledge Internet (CNKI) from inception to December 2024 following the scoping review framework proposed by Arksey and O'Malley (2005). A total of 5,008 studies were identified, and 98 were included in this review. The risk factors for AIMSS included psychosocial and demographic factors (e.g., age, BMI, menstrual status, and anxiety), clinical factors (e.g., history of chemotherapy, preexisting pain, and musculoskeletal diseases) and gene polymorphisms (e.g., ESR1, OPG, RANKL, TCL1A, and CYP19A1). The outcomes of AIMSS encompassed physical, psychological, behavioral, and survival-related impacts. This scoping review synthesized the available evidence on predictors, risk factors, and outcomes of AIMSS, providing a foundation for developing risk prediction models and enhancing symptom management strategies.