Differences In Clinical Presentation Research Articles

Clinical Presentations, MDCT Features, and Treatment of Three Types of Adult Intussusceptions Based on the Location.

This study aimed to explore the similarities and differences in clinical presentations, multidetector computed tomographic (MDCT) features, and treatment of three types of adult intussusceptions based on location. We retrospectively reviewed 184 adult patients with 192 intussusceptions. Depending on the location, intussusceptions were classified as enteric, ileocolic, and colonic types. The similarities and differences of clinical presentations, MDCT features, and treatment of three types of adult intussusception were compared. Meanwhile, the three types of intussusceptions were further divided into surgical and conservative groups based on the treatment. Uni- and multivariate logistic analyses were used to identify risk factors for intussusception requiring surgery. Enteric and ileocolic intussusceptions were mainly presented with abdominal pain (78.46% and 85.71%). Hematochezia/melena (64.29%) was the main symptom of colonic intussusception. On MDCT, ileocolic intussusceptions were longer in length and had more signs of intestinal necrosis (hypodense layer, fluid collection and no/poor bowel wall enhancement) than enteric and colonic intussusceptions. Moreover, it was found that 93.88% (46/49) of ileocolic intussusception and 98.59% (70/71) of colonic intussusception belonged to the surgical group, whereas only 43.06% (31/72) of enteric intussusception belonged to the surgical group. Intussusception length (OR=1.171, P=0.028) and discernible lead point on MDCT (OR=21.003, P<0.001) were reliable indicators of enteric intussusception requiring surgery. Ileocolic intussusception may be more prone to intestinal necrosis than enteric and colonic intussusceptions, requiring more attention from clinicians. Surgery remains the treatment of choice for most ileocolic and colonic intussusceptions. Less than half of enteric intussusceptions require surgery, and MDCT features are effective in identifying them.

Sex-related differences in patients presenting with heart failure–related cardiogenic shock

BackgroundHeart failure–related cardiogenic shock (HF-CS) accounts for a significant proportion of all CS cases. Nevertheless, there is a lack of evidence on sex-related differences in HF-CS, especially regarding use of treatment and mortality risk in women vs. men. This study aimed to investigate potential differences in clinical presentation, use of treatments, and mortality between women and men with HF-CS.MethodsIn this international observational study, patients with HF-CS (without acute myocardial infarction) from 16 tertiary-care centers in five countries were enrolled between 2010 and 2021. Logistic and Cox regression models were used to assess differences in clinical presentation, use of treatments, and 30-day mortality in women vs. men with HF-CS.ResultsN = 1030 patients with HF-CS were analyzed, of whom 290 (28.2%) were women. Compared to men, women were more likely to be older, less likely to have a known history of heart failure or cardiovascular risk factors, and lower rates of highly depressed left ventricular ejection fraction and renal dysfunction. Nevertheless, CS severity as well as use of treatments were comparable, and female sex was not independently associated with 30-day mortality (53.0% vs. 50.8%; adjusted HR 0.94, 95% CI 0.75–1.19).ConclusionsIn this large HF-CS registry, sex disparities in risk factors and clinical presentation were observed. Despite these differences, the use of treatments was comparable, and both sexes exhibited similarly high mortality rates. Further research is necessary to evaluate if sex-tailored treatment, accounting for the differences in cardiovascular risk factors and clinical presentation, might improve outcomes in HF-CS.Graphical abstractSex-related differences in clinical characteristics, shock severity, and mortality in patients with heart failure–related cardiogenic shock. Summary for the main study findings. AMI, acute myocardial infarction; CI, confidence interval; HF-CS, heart failure–related cardiogenic shock; LVEF, left ventricular ejection fraction; MCS, mechanical circulatory support; SCAI, Society for Cardiovascular Angiography & Interventions.

Sex Differences in Prehospital Identification of Large Vessel Occlusion in Patients With Suspected Stroke.

Differences in clinical presentation of acute ischemic stroke between men and women may affect prehospital identification of anterior circulation large vessel occlusion (aLVO). We assessed sex differences in diagnostic performance of 8 prehospital scales to detect aLVO. We analyzed pooled individual patient data from 2 prospective cohort studies (LPSS [Leiden Prehospital Stroke Study] and PRESTO [Prehospital Triage of Patients With Suspected Stroke Study]) conducted in the Netherlands between 2018 and 2019, including consecutive patients ≥18 years suspected of acute stroke who presented within 6 hours after symptom onset. Ambulance paramedics assessed clinical items from 8 prehospital aLVO detection scales: Los Angeles Motor Scale, Rapid Arterial Occlusion Evaluation, Cincinnati Stroke Triage Assessment Tool, Cincinnati Prehospital Stroke Scale, Prehospital Acute Stroke Severity, gaze-face-arm-speech-time, Conveniently Grasped Field Assessment Stroke Triage, and Face-Arm-Speech-Time Plus Severe Arm or Leg Motor Deficit. We assessed the diagnostic performance of these scales for identifying aLVO at prespecified cut points for men and women. Of 2358 patients with suspected stroke (median age, 73 years; 47% women), 231 (10%) had aLVO (100/1114 [9%] women and 131/1244 [11%] men). The area under the curve of the scales ranged from 0.70 (95% CI, 0.65-0.75) to 0.77 (95% CI, 0.73-0.82) in women versus 0.69 (95% CI, 0.64-0.73) to 0.75 (95% CI, 0.71-0.79) in men. Positive predictive values ranged from 0.23 (95% CI, 0.20-0.27) to 0.29 (95% CI, 0.26-0.31) in women versus 0.29 (95% CI, 0.24-0.33) to 0.37 (95% CI, 0.32-0.43) in men. Negative predictive values were similar (0.95 [95% CI, 0.94-0.96] to 0.98 [95% CI, 0.97-0.98] in women versus 0.94 [95% CI, 0.93-0.95] to 0.96 [95% CI, 0.94-0.97] in men). Sensitivity of the scales was slightly higher in women than in men (0.53 [95% CI, 0.43-0.63] to 0.76 [95% CI, 0.68-0.84] versus 0.49 [95% CI, 0.40-0.57] to 0.63 [95% CI, 0.55-0.73]), whereas specificity was lower (0.79 [95% CI, 0.76-0.81] to 0.87 [95% CI, 0.84-0.89] versus 0.82 [95% CI, 0.79-0.84] to 0.90 [95% CI, 0.88-0.91]). Rapid arterial occlusion evaluation showed the highest positive predictive values in both sexes (0.29 in women and 0.37 in men), reflecting the different event rates. aLVO scales show similar diagnostic performance in both sexes. The rapid arterial occlusion evaluation scale may help optimize prehospital transport decision-making in men as well as in women with suspected stroke.

Sport-related concussion in 8- to 12-year-olds: an understudied population.

Most studies regarding sport-related concussion (SRC) focus on high school and collegiate athletes; however, little has been published on children younger than 12 years of age. In a cohort of children aged 8-12 years with SRC, the authors sought to describe demographics, initial presentation, and recovery in this understudied population. A retrospective cohort study of children aged 8-12 years who sustained an SRC between November 2017 and April 2022 and were treated at a regional sports concussion center was conducted. Demographic information, injury characteristics, traditional Sport Concussion Assessment Tool 5 (SCAT5) and Child/Parent SCAT5 scores, and outcomes, defined as days to return to learn (RTL), symptom resolution, and return to play (RTP), were reported. Outcomes in boys and girls were compared using effect size analyses given sample size constraints. Forty-seven athletes were included. The mean age was 11.0 ± 0.8 years, and the majority were male (34, 72.3%). A sizable proportion of patients visited an emergency department (19, 40.4%), and many received head imaging (16, 34.0%), mostly via CT (n = 13). The most common sport for boys was football (15, 44.1%), and the most common sports for girls were soccer (4, 30.8%) and cheerleading (4, 30.8%). These athletes reported a variety of symptoms on presentation. It took a mean of 8.8 ± 10.8 days to RTL, 27.3 ± 38.3 days to reach symptom resolution, and 35.4 ± 41.9 days to RTP. When comparing boys versus girls, there appeared to be moderate differences in symptom severity scores (Cohen's d = 0.44 for SCAT5, 0.13 for Child SCAT5, and 0.38 for Parent SCAT5) and minimal differences in recovery (Cohen's d = 0.11 for RTL, n = 35; 0.22 for symptom resolution, n = 22; and 0.12 for RTP, n = 21). In this cohort of concussed athletes aged 8-12 years, a little less than half of the athletes initially presented to the emergency department, and approximately one-third received acute head imaging. Across all athletes, the mean RTL was slightly more than a week and the mean symptom resolution and RTP were both approximately 1 month; however, much of the cohort is missing recovery outcome measures. This study demonstrated a strong positive correlation between Child SCAT5 and Parent SCAT5 symptom reporting. Future efforts are needed to evaluate differences in clinical presentation and outcomes following SRC between children and older populations.

Quality of life and symptoms of pain in patients with endometriomas compared to those with other endometriosis lesions: a cross-sectional study

BackgroundEndometriomas are genetically distinct from other endometriosis lesions and could be associated with a predisposition to excessive inflammation. However, differences in clinical presentation between types of endometriosis lesions have not been fully elucidated. This study aimed to investigate the quality of life and pain scores of patients with endometriomas compared to those with other types of endometriosis lesions.MethodsA cross-sectional observational study was conducted between January 2020 and August 2023. Patients diagnosed with endometriosis completed the Endometriosis Health Profile 30 pain subscale questionnaire for their quality of life score and rated their endometriosis-associated pain symptoms using an 11-point numerical rating scale. The data were analyzed for comparison through multivariate linear regression models.ResultsA total of 248 patients were included and divided into endometrioma (81, 33%) and nonendometrioma (167, 67%) groups. The mean age of the patients was 37.1 ± 7.5 years. Most participants were Canadian or North American (84%). One-third of the patients reported experiencing up to four concurrent pain symptoms. The most reported pain included deep dyspareunia (90%), chronic pelvic pain (84%) and lower back pain (81%). The mean quality of life score was 45.9 ± 25.9. We observed no difference in quality of life scores between patients with and without endometriomas. Patients with endometriomas had lower mean scores for deep dyspareunia (0.8; 95% CI [0 to 1.5]; p = 0.049) and higher mean scores for superficial dyspareunia (1.4; 95% CI [0.2 to 2.6]; p = 0.028). Comorbid infertility (p = 0.049) was a factor that modified superficial dyspareunia intensity in patients with endometriomas.ConclusionIn patients with endometriosis, evidence was insufficient to conclude that the presence of endometriomas was not associated with a greater or lesser quality of life, but differences in specific symptoms of dyspareunia were identified.

P119 Single-cell RNA sequencing in Inflammatory Bowel Disease in patients with Primary Sclerosing Cholangitis: a distinct form of colitis

Abstract Background Primary sclerosing cholangitis (PSC) is an inflammatory disorder of the bile ducts, in which Inflammatory bowel disease (IBD) concomitantly occurs (PSC-IBD). Substantial differences in clinical presentation are observed between PSC-IBD and ulcerative colitis (UC). In this study we aim to find distinct pathomechanisms for PSC-IBD using single-cell RNA sequencing. Methods Forty-seven colonic samples of PSC-IBD (n=24), UC (n=18) and non-IBD subjects (n=5) were collected. Whole biopsies were dissociated into single cells using collagenase digestion. Library preparation was done with 10x Genomics and sequencing was performed on an MGI2000 sequencer. Then, differential abundance, differential expression, and cell-cell interaction analyses were performed. Stainings for DUOX2 and HLA-DR were performed on paraffin embedded colon mucosal slides. Results In total, 71,798 high quality cells identified 54 distinct cell types, including a new type of epithelial cells: DUOX2+ enterocytes. DUOX2+ enterocytes are almost exclusively present in diseased inflamed colon and can act as antigen presenting cells through the expression of MHC2 on its surface. A general shift in cell type composition upon inflammation was observed, comparable between PSC and UC samples. However, an increased abundance was seen for stem cells in non-inflamed (NI) PSC, and not in UC-NI, compared to healthy controls. Additionally, we found distinct gene expression patterns between PSC and UC inflammation: while activation of inflammatory monocytes was observed in PSC inflammation, several types of fibroblasts were activated upon UC inflammation. Conclusion We describe DUOX2+ enterocytes, which may play a role in both PSC and UC colitis through antigen presentation. Furthermore, we show that intestinal inflammation in PSC-IBD, as compared to UC, is characterized by distinct mucosal cell composition and cell-specific gene expression patterns. PSC colitis, and not UC colitis, is driven by activation of inflammatory monocytes, with antigen presentation through HLA-DRB1, and activation of CD4+ T cells. Additionally, an increased abundance of stem cells in PSC-NI could be related with the increased colorectal cancer risk in PSC-IBD.

P581 Age-related patterns in biological therapy use and surgery among patients with IBD: Insights from the Belgian PANTHER cohort

Abstract Background Inflammatory bowel diseases (IBD) are predominantly diagnosed during the second to third life decade. However, the disease may manifest itself at any age and current understanding of differences in clinical presentation and therapy use among age groups is still limited. We aimed to analyse age-related patterns in biological and surgical treatment among patients with IBD. Methods This study utilized data from the PANTHER cohort, a prospective Belgian inception cohort including 473 adult patients with IBD from 3 Belgian referral centres. Patient inclusion took place from 2015 to 2023. Patients were categorized into groups based on the age at diagnosis: 'young adult-onset' (18-39 years), 'adult-onset' (40-59 years), and ‘elderly-onset’ (³60 years). Baseline characteristics and treatments were analysed using Chi square, Mann-Whitney U tests, log-rank tests and/or Cox regression in SPSS. Results Baseline characteristics are shown in Table 1. No significant differences were found between age groups in terms of IBD diagnosis, gender, median follow-up duration, and smoking status. Use of biologics differed significantly across age groups with highest uptake in young-adult onset patients (65.8%, P&amp;lt;0.001). Significant differences were found in selection of first biologic with vedolizumab as most frequently selected option in the elderly compared to anti-TNF in the youngest age group (P=0.002). Time to initiation of a biological was earlier in the youngest cohort (P=0.002, Figure 1). Cox regression analysis revealed that older age at diagnosis (HR 0.987, 95%CI [0.98;0.996], P=0.006), UC (HR 0.495, 95%CI [0.50;0.39], P&amp;lt;0.001) and centre of follow-up (Brussels vs Leuven: HR 0.663, 95%CI [0.4;1], P=0.048) were associated with a lower risk of biological initiation. When analysing CD separately, independent risk factors associated with biological use were perianal disease (HR 2.26, 95%CI [1.6;3.2], P&amp;lt;0.001), L3 (HR 1.85, 95%CI [1.3;2.6], P&amp;lt;0.001,) and L4 (HR 12.7, 95%CI [1.6;98.7], P=0.015,) location (compared to L1 location). In UC patients, E2 (HR 7.9, 95%CI [2.8;22.4], P&amp;lt;0.001) and E3 (HR 6.9, 95%CI [2.4;19.3], P&amp;lt;0.001) were related to earlier use of biologics. During follow-up, 19% of CD and 5.1% of UC patients required IBD-related surgery. Univariate analysis showed a higher need for surgery in younger patients (P=0.042), however, this difference was no longer significant when analysing CD (P=0.272) and UC (P=0.09) patients as separate groups. Conclusion Analysis of the PANTHER Biobank reveals significant age-related variation in the administration of biological therapies among IBD patients.

Differences in clinical presentation between newly diagnosed bipolar I and II disorders: A naturalistic study

AimThis naturalistic clinical study aims to investigate differences between newly diagnosed patients with bipolar type I (BDI) and bipolar type II (BDII) disorders in socio-demographic and clinical characteristics, affective symptoms, cognition, functioning and comorbidity with personality disorders. MethodsThe BD diagnosis and type were confirmed using the Schedules for Clinical Assessment in Neuropsychiatry. Affective symptoms were assessed with the Young Mania Rating Scale, the Hamilton Depression Rating Scale, the Major Depressive Index, and the Altman Self-Rating Mania Scale. Functional impairment was assessed with the Functional Assessment Short Test. Cognitive impairment was evaluated by the Screen for Cognitive Impairment in Psychiatry and the Cognitive Complaints in Bipolar Disorder Rating Assessment. Finally, comorbid personality disorders were assessed with the Standardized Assessment of Personality-Abbreviated Scale and structured interview Structured Clinical Interview for DSM-disorders. Results383 newly diagnosed patients were included (BDI: n = 125; BDII: n = 258). Against expectations, we found no more depressive symptoms in BDII compared with BDI nor any differences in cognitive, childhood trauma or overall functional impairment. The only difference was lower occupational impairment in the BDII group. LimitationsThe self-reported measures of cognitive difficulties and childhood trauma involved potential bias (recall or other). Despite BD being newly diagnosed a diagnostic delay was observed. ConclusionPatients newly diagnosed with BDII and BDI had similar burdens of depressive symptoms and cognitive and overall functional impairment, however patients with BDI had lower occupational functioning. No statistically significant difference was found in prevalence of comorbid personality disorders between patients with BDI and BDII.

Pediatric Cryptococcosis.

Seroprevalence studies have shown that 70% of children are exposed to Cryptococcus , the most common cause of meningitis in people living with human immunodeficiency virus (HIV), but reported pediatric disease prevalence is much lower than in adults. PubMed and Ovid Global Health databases were searched with the terms "cryptococcosis," "cryptococcal meningitis," " Cryptococcus neoformans " or " Cryptococcus gattii ." All studies reporting pediatric specific data in the English language from 1980 up until December 2022 were included. One hundred sixty-eight publications were reviewed totaling 1469 children, with the majority reported from Africa (54.2%). Sixty-five percent (961) were HIV positive, 10% (147) were non-HIV immunocompromised and 19% (281) were immunocompetent. Clinical signs and symptoms were only reported for 458 children, with fever (64%), headache (55%) and vomiting (39%) being the most common. Most children (80%) suffered from meningoencephalitis. Lung involvement was rarely described in HIV-positive children (1%), but significantly more common in the non-HIV immunocompromised (36%) and immunocompetent (40%) groups ( P < 0.0001). Only 22% received the recommended antifungal combination therapy, which was significantly higher in immunocompetent children than those with HIV (39% vs. 6.8%; P < 0.0001). Overall mortality was 23%. A significant higher mortality was observed in children with HIV compared with immunocompetent children (32% vs. 16%; P < 0.001), but not compared with children with non-HIV immunosuppression (25). This is the largest review of pediatric cryptococcosis with new observations on differences in clinical presentation and outcome depending on the underlying condition. The lack of granular clinical data urges prospective clinical epidemiological studies for improved insight in the epidemiology, management and outcome of cryptococcosis in children.

Familial retinoblastoma: variations in clinical presentation and management based on paternal versus maternal inheritance

BackgroundSeveral studies have demonstrated the effect of parent-of-origin on retinoblastoma penetrance. The purpose of the current study was to assess differences in clinical presentation of paternally versus maternally inherited retinoblastoma. MethodsThe clinical records of all children with familial retinoblastoma treated on a tertiary Ocular Oncology Service between December 1975 and May 2020 were reviewed retrospectively. ResultsA total of 179 patients with familial retinoblastoma were included. Paternal inheritance (PI) was identified in 109 (61%) patients and maternal inheritance (MI) in 70 patients (39%). A comparison (PI vs MI) revealed PI patients were older at presentation (57.2 vs 24.4 months [P = 0.002]) with no difference in patient sex (53% females vs 57% males [P = 0.606]) or number of family members affected (3.2 vs 3.0 family members [P = 0.255]). PI patients had more advanced classification according to the International Classification of Retinoblastoma (ICRB) (group E: 31% vs 8% [P = 0.012)] and greater largest tumor in basal diameter (9.0 vs 6.2 mm [P = 0.040]) and thickness (5.6 vs 4.0 mm [P = 0.038]); they were also less likely to be located in the macula (40% vs 60% [P = 0.004]). There was no difference in tumor laterality (69% vs 64% bilaterality [P = 0.530]). PI patients required enucleation more frequently (34% vs 14% [P = 0.007]). There was no difference in need for plaque radiotherapy (P = 0.86) or chemotherapy (P = 0.85). One PI patient developed metastatic retinoblastoma, and there were no retinoblastoma-related deaths. ConclusionsPatients with paternally inherited retinoblastoma presented at an older age, with larger, more peripheral tumors and more advanced ICRB group, and were more likely to require enucleation compared to those with maternally inherited retinoblastoma.

Differential clinical characteristics across traditional Chinese medicine (TCM) Syndromes in patients with sickle cell disease.

Pain is a common, debilitating, and poorly understood complication of sickle cell disease (SCD). The need for clinical pain management of SCD is largely unmet and relies on opioids as the main therapeutic option, which leads to a decreased quality of life (QoL). According to the literature, acupuncture has shown certain therapeutic effects for pain management in SCD. However, these clinical studies lack the guidance of Traditional Chinese Medicine (TCM) Syndrome Differentiation principles for treatment. To characterize differences in clinical presentation amongst TCM diagnosed Syndromes in SCD patients. Fifty-two patients with SCD and 28 age- and sex-matched healthy controls (HCs) were enrolled in an ongoing trial of acupuncture. Each participant completed a series of questionnaires on pain, physical function, fatigue, sleep, anxiety, depression and QoL and underwent cold- and pressure-based quantitative sensory testing at baseline. Data on prescription opioid use over the 12 months prior to study enrollment was used to calculate mean daily morphine milligram equivalents (MME). Differences among the three TCM Syndromes were analyzed by one-way ANOVA followed by Tukey post hoc testing. Two-sample t-tests were used to compare SCD and HC groups. TCM diagnosis criteria classified SCD patients into one of three TCM Syndromes: (a) Equal; (b) Deficiency; and (c) Stagnation. The Stagnation group exhibited higher pain interference, physical dysfunction, nociplastic pain, fatigue, anxiety, depression, MME consumption and lower sleep quality and QoL compared to the Equal group. Few differences were observed between HCs and the Equal SCD group across outcomes. Deficiency and Stagnation groups were differentiated with observed- and patient-reported clinical manifestations. These findings suggest that TCM diagnosed Syndromes in SCD can be differentially characterized using validated objective and patient-reported outcomes. Because characteristics of pain and co-morbidities in each SCD patient are unique, targeting specific TCM "Syndromes" may facilitate treatment effectiveness with a Syndrome-based personalized treatment plan that conforms to TCM principles. These findings lay the foundation for the development of tailored acupuncture interventions based on TCM Syndromes for managing pain in SCD. Larger samples are required to further refine and validate TCM diagnostic criteria for SCD.

Regional differences in synaptic degeneration are linked to alpha-synuclein burden and axonal damage in Parkinson’s disease and dementia with Lewy bodies

Regional differences in synaptic degeneration may underlie differences in clinical presentation and neuropathological disease progression in Parkinson’s Disease (PD) and Dementia with Lewy bodies (DLB). Here, we mapped and quantified synaptic degeneration in cortical brain regions in PD, PD with dementia (PDD) and DLB, and assessed whether regional differences in synaptic loss are linked to axonal degeneration and neuropathological burden. We included a total of 47 brain donors, 9 PD, 12 PDD, 6 DLB and 20 non-neurological controls. Synaptophysin+ and SV2A+ puncta were quantified in eight cortical regions using a high throughput microscopy approach. Neurofilament light chain (NfL) immunoreactivity, Lewy body (LB) density, phosphorylated-tau and amyloid-β load were also quantified. Group differences in synaptic density, and associations with neuropathological markers and Clinical Dementia Rating (CDR) scores, were investigated using linear mixed models. We found significantly decreased synaptophysin and SV2A densities in the cortex of PD, PDD and DLB cases compared to controls. Specifically, synaptic density was decreased in cortical regions affected at Braak α-synuclein stage 5 in PD (middle temporal gyrus, anterior cingulate and insula), and was additionally decreased in cortical regions affected at Braak α-synuclein stage 4 in PDD and DLB compared to controls (entorhinal cortex, parahippocampal gyrus and fusiform gyrus). Synaptic loss associated with higher NfL immunoreactivity and LB density. Global synaptophysin loss associated with longer disease duration and higher CDR scores. Synaptic neurodegeneration occurred in temporal, cingulate and insular cortices in PD, as well as in parahippocampal regions in PDD and DLB. In addition, synaptic loss was linked to axonal damage and severe α-synuclein burden. These results, together with the association between synaptic loss and disease progression and cognitive impairment, indicate that regional synaptic loss may underlie clinical differences between PD and PDD/DLB. Our results might provide useful information for the interpretation of synaptic biomarkers in vivo.

Coexistence of Thyroglossal Cyst and Thyroid Disease in Adults: Surgical Outcomes From A Single Center.

Thyroglossal cysts (TGCs) usually present during childhood and before the age of 30, however, they can also be seen in adults, even in advanced age. Nodular thyroid disease is also common in adults. In the literature, there is an ongoing debate regarding the differences in clinical presentation, gender, and postoperative recurrence of TGC between children and adults. In this study, we aimed to process the data of adult patients who underwent surgery for TGC in our clinic, along with the data on concurrent thyroid disease and thyroid surgery. The data of patients over 18 years old who were operated on for TGC at the General Surgery Clinic of Sisli Hamidiye Etfal Training and Research Hospital between 2018 and 2024 were retrospectively evaluated. A total of 16 patients with a mean age of 43.94±12.98 (21-67) years, were included in the study (11 F/5 M). The diagnosis of TGC was made in 12 patients (75%) by ultrasonography (USG), in 1 patient (6.25%) by computed tomography, in 1 patient (6.25%) by magnetic resonance imaging (MRI), and in 2 patients (12.5%) incidentally intraoperatively. 13 patients (81.25%) underwent the Sistrunk procedure, and 3 patients (18.75%) underwent cyst excision. Among the 16 TGC patients, papillary thyroid cancer in the cyst was detected in one patient (6.25%) preoperatively. During preoperative evaluation, nodular thyroid disease was found in 12 patients (75%). Of these, papillary thyroid cancer was detected in 3 patients (18.75%) preoperatively. Of the TGC group, 3 (18.75%) underwent thyroidectomy for thyroid malignancy, and five (31.25%) underwent additional thyroid surgery for nodular thyroid disease. The patients were followed for a mean of 22.63±18.32 months (3-67 months), and no recurrence of TGC was observed during the follow-up period. In patients with TGC, thyroid diseases and the requirement for thyroidectomy due to benign or malignant thyroid disease are not uncommon. Patients with TGC should be evaluated for thyroid disease before surgical treatment. While the Sistrunk procedure is the standard surgical technique in the treatment of TGC, in adults, if the cyst terminates below the hyoid bone, total cyst excision without removing the central portion of the hyoid bone may be sufficient.

Clinical and laboratory status in Parkinson’s disease patients with and without polyneuropathy

Background/Aim. The etiology of polyneuropathy (PNP) in patients with Parkinson?s disease (PD) is unclear, and there is a possible association between levodopa therapy, hyperhomocysteinemia, and PNP development due to methylation processes involving vitamin B12 and folic acid. The aim of this study was to analyze the difference in clinical presentation and disease severity between PD patients with and without PNP and to evaluate blood levels of vita-min B12, homocysteine, and folic acid in these patients. Methods. This cross-sectional study included 200 consecutive patients diagnosed with PD, divided into two groups: those with PNP and those without PNP. Diagnosis of PNP was confirmed by electromyoneurography. The first group consisted of 50 patients with PD with confirmed PNP, and the second 50 patients with PD without PNP. All patients were receiving levodopa therapy. Laboratory tests analyzed vitamin B12, folic acid, and homocysteine levels. Results. Patients with PNP were older when PNP was diagnosed (71 vs. 66 years, p &lt; 0.0001), without differences in duration of levodopa therapy (p = 0.359) or daily dose (p = 0.442), and with significant motor impairment according to Unified Parkinson?s Disease Rating Scale III (p = 0.017). No difference was found between groups for vitamin B12 (p = 1.0), folic acid (p = 0.124), and homocysteine (p = 0.313) serum levels. Conclusion. PD patients with PNP have a more pronounced motor deficit, while differences in vitamin B12, homocysteine, and folic acid values compared to the group without PNP were not registered.

Differences in checkpoint-inhibitor-induced hypophysitis: mono- versus combination therapy induced hypophysitis.

Immune checkpoint inhibitors (ICIs) are revolutionary in oncology but may cause immune-related (IR) side effects, such as hypophysitis. Treatment with anti-PD-(L)1, anti-CTLA-4 or anti-CLTA-4/PD-1 may induce hypophysitis, but little is known about the differences in clinical presentation or need for different treatment. We analyzed the differences of anti-PD-(L)1, anti-CTLA-4 and anti-CTLA-4/PD-1 induced hypophysitis. retrospective analysis of 67 patients (27 anti-PD-(L)1, 6 anti-CLTA-4 and 34 anti-CTLA-4/PD-1 induced hypophysitis). The median time between starting ICIs and IR-hypophysitis was longer after anti-PD(L)-1) therapy (22 weeks versus 11 and 14 weeks after anti-CTLA-4 and anti-CTLA-4/PD-1 therapy, respectively). The majority of patients (>90%), presented with atypical complaints such as fatigue, nausea, and muscle complaints. Headache, TSH or LH/FSH deficiency were more common in anti-CTLA-4 and anti-CLTA-4/PD-1 versus anti-PD-(L)1 induced hypophysitis (83% and 58% versus 8%, 67% and 41% versus 11%, and 83% and 48% versus 7%, respectively). Pituitary abnormalities on MRI (hypophysitis or secondary empty sella syndrome) were only seen in patients receiving anti-CTLA-4 or anti-CTLA-4/PD-1 therapy. Recovery from TSH, LH/FSH and ACTH deficiency was described in 92%, 70% and 0% of patients after a mean period of 14 and 104 days, respectively, and did not differ between patients who did or did not receive high-dose steroids. The clinical presentation of IR-hypophysitis varies depending on the type of ICIs. MRI abnormalities were only seen in anti-CTLA-4 or anti-CTLA-4/PD-1 induced hypophysitis. Endocrine recovery is seen for LH/FSH and TSH deficiency but not for ACTH deficiency, irrespective of the corticosteroid dose.

Clinical Benefits of Targeting Treatable Traits in Asthma and Chronic Obstructive Pulmonary Disease.

Asthma and chronic obstructive pulmonary disease (COPD) have long been debated regarding their similarities and differences in clinical presentation and pathology. There has also been a discussion about how common therapeutics should be used differently for each disease. Traditionally, a "one size fits all" stepwise treatment has been chosen based on the severity of each case after categorizing the diseases, such as asthma or COPD. However, recently, the need for a precise approach for the treatment of individual patients beyond the disease category has been emphasized, especially in severe cases. To achieve precise personalized therapy, it has become necessary to focus on the individual phenotypes and underlying causal molecular mechanisms (endotypes) and to identify key therapeutic targets, which are called treatable traits. This review discusses the evidence for the importance of identifying treatable traits and therapeutic strategies based on the broader perspective of chronic obstructive airway disease rather than on individual diseases such as asthma or COPD.

Clinical Presentation Differences Among Four Subtypes of Femoroacetabular Impingement: A Case-Control Study.

The aims of this study were to assess the psychological, functional, and physical differences between patients with femoroacetabular impingement (FAI) syndrome and individuals who were asymptomatic (controls) to analyze clinical differences among 4 subtypes of FAI (cam type, cam type with labral tear, pincer type, and pincer type with labral tear), to calculate the correlations among the variables described, and to identify risk factors contributing to the hip function variance. A case-control study was conducted at a hospital rehabilitation unit with a cohort of individuals who were asymptomatic (controls) and a cohort of patients with FAI. Sociodemographic characteristics, pain intensity, psychological health status, hip range of motion (RoM), hip isometric strength, and hip function were assessed. A total of 69 controls and 69 patients with FAI were analyzed. Although sociodemographic characteristics were comparable between samples, poorer hip RoM, strength, and psychological health were found for the cases. FAI subtypes showed no significant pain intensity, psychological health, or RoM differences (except for hip adduction), but hip strength differed among FAI subtypes. Multiple significant correlations between psychological health, pain intensity, RoM, strength, and hip function were found. The variance values of the International Hip Outcome Tool, Hip Outcome Score (HOS) for daily living activities, and HOS for sports activities were partially explained (47.6%, 36.0%, and 21.6%, respectively) on the basis of kinesiophobia, hip strength, self-efficacy, and anxiety. Patients with FAI showed poorer psychological health, hip RoM, and strength than individuals who were asymptomatic and had similar sociodemographic characteristics. FAI subtype influenced the patients' clinical presentations. Hip strength, kinesiophobia, anxiety, and self-efficacy should be targeted for improving hip function, as they have been demonstrated to be important contributors to hip disability. This study demonstrated that pain catastrophizing, hip strength, and hip adduction differed among FAI subtypes. However, hip function and pain intensity were comparable between FAI subtypes.

Ethnic Disparities in Clinical Presentation of Patients with Early‐Onset Alzheimer’s Disease

AbstractBackgroundEarly‐onset Alzheimer’s Disease (EOAD) affects patients under age 65 and may present with non‐amnestic features. Black patients are half as likely as White patients to be diagnosed despite twice as many risk factors. Ethnic disparities in EOAD have not been fully characterized.MethodsWe retrospectively collected data on ethnicity, level of education, Montreal Cognitive Assessment (MoCA) scores on EOAD patients diagnosed between 2017 and 2022 at The University of Chicago Memory Center.ResultsOf 88 total patients, 60 (68.8%) identified as White and 28 (31.8%) identified as Black. Age at diagnosis was 57.3 ± 5.24 years in Black patients compared to 55.9 ± 5.69 years In White patients. Average time to diagnosis was longer in Black patients (5 ± 9.21 yrs.) vs White patients (3.5 ± 6.44 yrs). Black patients had lower MoCA scores than Whites at presentation (12.17 ± 6.91 vs 15.15 ± 5.92), despite similar education levels among Black vs. White patients (14.71 ± 2.30 vs 15.21 ± 3.00).Black patients more commonly displayed an amnestic profile (19 or 67.9%) than a non‐amnestic presentation (9 or 32.1%), although 2 patients (7.14%) presented with visual symptoms suggestive of posterior cortical atrophy (PCA), 5 (17.9%) patients had prominent language symptoms suggestive of logopenic primary progress aphasia (l‐PPA) and 1 (3.6%) patient had an executive presentation, suggestive of executive variant of AD (EAD). In White patients, 11 (18.3%) were diagnosed with PCA, 10 (16.7%) with EAD and 8 (13.3%) with l‐PPA.Differences were noted in the application of diagnostic tests, in that neuropsychological testing (NPT) and CSF testing were less often ordered in Black patients (NPT: 8 (29%) in Blacks vs 45 (75%) Whites, p = 0.001; CSF: 4 (14%) Blacks vs 30 (50%) Whites, p = 0.002).ConclusionIn our cohort, Black patients with EOAD were on average older, more advanced, and experience longer delays and differences in diagnostic management than their White counterparts. Further work is needed to characterize the barriers to diagnosis for Black patients with EOAD and the potential differences in clinical presentations.

A comparative study of Amyloid positive and negative individuals with “Alzheimer Syndrome”

AbstractBackgroundOutside academic centres, the diagnosis of probable Alzheimer’s Disease remains a clinical diagnosis supported by basic blood work and structural brain imaging. It has already been documented, approximately 1/3rd of individuals meeting clinical criteria for probable AD, do not show underlying amyloidopathy on PET or cerebrospinal fluid. Thus, the clinical “Alzheimer Syndrome” encompasses individuals with abnormal amyloid (Amyloid positive: A+), as well as “amyloid negative” individuals lacking amyloidopathy. Finding ways to distinguish these subgroups clinically will become increasingly important as anti‐amyloid therapies become more available. It is not yet clear if these two groups have any clinical or imaging features that might distinguish them. Our objective was to find out if there are any clinical or imaging pointers towards amyloid biomarker status.MethodsA retrospective chart review of 23 patients screened for anti‐amyloid clinical trials was performed, of whom 13 were (A+) and 10 were (A‐). The following information was collected from the chart review‐ demography, medical history, clinical presentation, course of disease and rate of progression, neuropsychological test scores, blood work, brain scans, and any other relevant investigations. Relevant data were subjected to appropriate statistical analysis.ResultsThis is an ongoing study and the results are derived from interim analysis. Comparison of the (A+) and (A‐) groups revealed no statistically significant difference in terms of age, sex, amnestic presentation and cognitive decline rate. We did not find evidence (in this small group) that (A‐) subjects had a greater vascular load ‐ no difference in Hachinski score or Fazekas score. The only statistically significant difference between the groups was found in their NPI scores, with the A+ group showing a higher score (2.92 versus 0.80, p = 0.008).ConclusionAmyloid positive individuals are more likely to have neuropsychiatric manifestations during the course of their cognitive decline than their Amyloid negative counterpart. Work is ongoing to delineate biological and biomarker differences that account for the cortical dementia (Alzheimer Syndrome) in Amyloid negative subjects. Delineating differences in clinical presentation may prove useful in specifying which of these individuals are actually Amyloid positive. Confirmation in a larger group of subjects will be necessary.

886. Impact of Race on the Early Diagnosis and Treatment of Lyme Disease

Abstract Background Previous studies using single-state and Medicare surveillance data found that Black patients with Lyme Disease (LD) are more likely to present outside of the typical summer months and have higher rates of disseminated disease at diagnosis. We further explored differences in clinical presentation and early treatment of Lyme Disease by self-reported race among a large cohort of patients at an academic research clinic. Methods We abstracted data from all patients with untreated or post-treatment LD seen at the Johns Hopkins Lyme Disease Research Center (LDRC)—either for clinical care or research participation. Patients self-reported their demographics, and clinical information regarding their initial Lyme presentation was either recorded at the time of diagnosis or was abstracted from prior, external medical records. We examined the distribution of race across initial LD clinical presentations—categorized as 1) erythema migrans (EM) rash only, 2) disseminated disease, or 3) non-specific symptoms only—using chi-squared or Fisher’s exact test and fit logistic regression models. We compared racial differences in time to appropriate treatment using a one-sided Mann-Whitney test. Results Of 1363 individuals seen at the LDRC, 93% were white, 3% were Black, 2% were Asian, and 3% self-identified as either ‘other’ or more than one race. Compared to white patients, Black patients were less likely to present with erythema migrans (EM) rash (p &amp;lt; 0.0001) and more likely to present with disseminated disease or non-specific symptoms (p=0.009, p=0.019, respectively). Black patients were more likely to have received a course of inappropriate antibiotic therapy ( 16.7% vs 8.0 %, p= 0.058). Also, Black patients with EM rash experienced longer time to appropriate treatment (16.3 days vs 4.0, p=0.062). Number of asterisks indicates degree of statistical significance. N/S means "non-significant" Conclusion We identified several racial disparities in the early detection and treatment of Lyme Disease, highlighting the need for increased awareness of Lyme and its early manifestations among patients of color and the front-line clinicians who care for them. Because darker skin tones are generally under-represented in medical textbooks and patient education materials, we include several examples of EM rashes from Black patients seen at the LDRC (Figure 2). Disclosures John Aucott, MD, Pfizer, Inc.: Advisor/Consultant