Frequent Presentation Research Articles

Abstract 4134747: Trends and Disparities in Mortality Due to Thoracic Aortic Aneurysm in Patients in the United States from 1999 to 2020

Background: Thoracic aortic aneurysms (TAA) impact approximately 6 to 10 individuals per 100,000 people, though the actual prevalence is likely higher due to frequent asymptomatic presentations, posing a challenge for early diagnosis. The rupture of these aneurysms presents a significant risk, resulting in an estimated 30,000 deaths annually in the United States alone. This emphasizes the urgent need for enhanced detection and treatment strategies. An understanding of trends in TAA mortality is imperative for assessing the efficacy of current approaches, pinpointing vulnerable populations, and ultimately, advancing treatment equity. Methods: This study utilized death certificates from 1999 to 2020 sourced from the CDC WONDER Database. Deaths among individuals aged 25 years and older attributed to TAA were identified using the International Classification of Diseases, Tenth Revision (ICD-10) codes I71.1 and I71.2. Age-adjusted mortality rates (AAMRs) per 1,000,000 individuals and annual percent change (APC) were computed and stratified based on year, gender, race/ethnicity, and urbanization status. Results: Between 1999 and 2020, 47,136 deaths were reported in patients with TAA. Overall, AAMR decreased from 16.2 to 8.2 per 1,000,000 population between 1999 and 2020, with a significant decline from 1999 to 2013 (APC: -5.00; 95% CI: -5.54 to -4.5), followed by a slight increase from 2013 to 2020 (APC: 0.47; 95% CI: -1.02 to 3.06). Gender-based analysis revealed that men had consistently higher AAMRs than women (men: 11.2; 95% CI: 11 to 11.3; vs. women: 9; 95% CI: 8.9 to 9.1). Moreover, we found that AAMRs were the highest among non-Hispanic African Americans (11; 95% CI: 10.7 to 11.3) followed by non-Hispanic Whites (10.3; 95% CI: 10.2 to 10.4), non-Hispanic Asian or Pacific Islanders (9.5; 95% CI: 9 to 9.9), non-Hispanic American Indian or Alaska Native (7.8; 95% CI: 6.6 to 9), and Hispanic populations (5.2; 95% CI 5 to 5.5). In addition, non-metropolitan areas had higher AAMRs than metropolitan areas (non-metropolitan areas: 11; 95% CI: 10.8 to 11.2; vs. metropolitan: 9.8; 95% CI: 9.7 to 9.9) (Figure 1). Conclusions: This analysis revealed a significant decline in mortality since 1999 from TAA, with a slight upward trend in recent years. However, disparities persist, with higher AAMRs observed among men, non-Hispanic African Americans, and residents of non-metropolitan areas.

NICE guidance in the rapid access chest pain clinic: does it work?

Abstract Background Rapid Access Chest Pain Clinics (RACPC) were developed following the publication of the National Service Framework for Coronary Heart Disease in 2000(1). The National Institute for Health and Care Excellence (NICE) produces guidelines for the management of patients with recent onset chest pain of suspected cardiac origin(2). In 2016 the guidance was updated and recommended the use of CT coronary angiography (CTCA) as the initial investigation for patients with chest pain which was typical or atypical of angina. Adherence to the guideline may be dependent upon factors such as local availability of CT scanners and clinician preference. The RACPC in this tertiary centre is nurse-run with no medical involvement. There is good engagement with the CT department and in July 2017 the NICE guidance was adopted in the clinic. Purpose To evaluate the use of CTCA as the first line investigation for patients with typical or atypical chest pain. Methods Data from all patients reviewed in the clinic between 01/07/2017 and 31/12/2023 were prospectively collected, entered into a database, and then retrospectively analysed. The data were organised into 3 groups: patients with typical chest pain; atypical pain and those with non-cardiac sounding chest pain. The number of patients in each group who underwent a CTCA, and the outcome of the scan were evaluated. The CT scans were categorised as showing significant coronary artery disease (CAD), non-obstructive CAD, no CAD, or as inconclusive. The outcome of patients who had a positive CTCA was also recorded. Results 2986 patients were reviewed in the RACPC in the above period. 14.2% of patients presented with typical pain, 47.4% with atypical pain, and 30.6% had non-cardiac pain. The remaining patients presented with other symptoms such as breathlessness. CTCA was used as the first investigation in the majority of patients with typical or atypical pain, unless alternative investigations or management were deemed to be more clinically appropriate. In 59.5% of typical and 78.5% of atypical presentations, the CT scan showed no CAD, or non-significant CAD. There was a low incidence of positive scans in both groups, however patients with typical pain were more likely to have significant CAD (Table). All patients who had a CTCA indicating significant CAD, were referred for invasive angiography. 88.0% of typical presentations, and 64.0% of those with atypical pain, underwent revascularisation. No patient who underwent invasive angiography was found to have normal coronary arteries. Conclusion Atypical pain is the most frequent presentation in the RACPC, however the majority of these patients, and most of those with typical pain, do not have significant CAD. Careful assessment and the use of CTCA as the initial investigation, enable the identification of those patients who need invasive angiography. This is a cost-effective strategy which also reduces risk and radiation exposure for patients.

Exploring the reliability and profile of frequent mental health presentations using different methods: An observational study using statewide ambulance data over a 4-year period.

A disproportionate number of mental health presentations to emergency services are made by frequent presenters. No current consensus definition of a frequent presenter exists. Using a statewide population-based ambulance database, this study (i) applied previous statistical methods to determine thresholds for frequent presenters, (ii) explored characteristics of the identified frequent presenter groups compared to non-frequent presenters and (iii) assessed the reliability of these methods in predicting continued frequent presenter status over time. Statistical methods utilised in previous studies to identify frequent presenters were applied to all ambulance attendances for mental health symptoms, self-harm and alcohol and other drug issues between 1 January 2017 and 31 December 2020 in Victoria, Australia. Differences in characteristics between identified frequent and non-frequent presenter groups were determined by logistic regression analysis. The consistency of agreement of frequent presenter status over time was assessed using intraclass correlation coefficients. Thresholds for frequent presenters ranged from a mean of 5 to 39 attendances per calendar year, with groups differing in size, service use and characteristics. Compared to non-frequent presenters, frequent presenters had greater odds of being female, presenting with self-harm, experiencing social disadvantage or housing issues, involving police co-attendance and being transported to hospital. All frequent presenter definitions had poor reliability in predicting ongoing frequent presentations over time. A range of methods can define frequent presenters according to thresholds of yearly service use. Reasons for identifying frequent presenters may influence the method chosen. Future studies should explore definitions that capture the dynamic nature of presentations by this group.

Necrotizing enterocolitis following spontaneous intestinal perforation in very low birth weight neonates.

Necrotizing enterocolitis (NEC) and spontaneous intestinal perforation (SIP) are severe gastrointestinal complications of prematurity. The clinical presentation and treatment of NEC and SIP (peritoneal drain vs laparotomy) can overlap; however, the pathogenesis is distinct. Therefore, a patient initially treated for SIP can subsequently develop NEC. This phenomenon has only been described in case reports, and no risk factor evaluation exists. We evaluate clinical characteristics, risk factors, and outcomes of patients treated for a distinct episode of NEC after SIP. We performed a retrospective review of very low birth weight (<1500 g) neonates who presented with pneumoperitoneum between 07/2004 and 09/2022. Data was obtained from two separate neonatal intensive care units that were part of the same institution. Patients with an initial preoperative, intraoperative, or pathological diagnosis of NEC were excluded. Patients with an intraoperative diagnosis of SIP or preoperative diagnosis of SIP successfully treated with a peritoneal drain (PD) were evaluated. Patients subsequently treated (medically or surgically) for NEC after SIP were then compared to SIP-alone patients. Clinical characteristics included demographics, gestational age (GA), birth weight (BW), perinatal risk factors (chorioamnionitis, steroids, indomethacin), postoperative feeding regimen, and length of stay (LOS) were compared. Of the 278 patients included, 31 (11.2%) patients had NEC after SIP. There was no difference in GA (25 weeks vs 25 weeks, p = 0.933) or BW (760 g vs 735 g, p = 0.370) between NEC after SIP vs SIP alone cohorts, respectively. Twenty (64%) of NEC after-SIP patients were previously treated with LP. NEC after SIP occurred with a median onset of 56 days. Pneumatosis was the most frequent (81%) presenting symptom and 12 (39%) patients had hematochezia. Four (12.9%) patients required LP for NEC and all had NEC intraoperatively and on pathology. A majority (77.4%) of patients were on breast milk (BM) at time of NEC diagnosis. NEC after SIP patients had lower maternal age at delivery (29.0 vs 25.0, p = 0.055) and the incidence of NEC after LP (primary or failed drain) was higher than PD alone (16.7% vs 6.2%, p = 0.007). NEC after SIP patients had longer LOS (135 vs 81, p < 0.001). We report an 11.2% incidence of NEC at a median of 56 days following successful treatment of SIP, resulting in increased LOS. SIP patients are a high-risk cohort and protocols to prevent this phenomenon should be investigated.

An expert consensus on managing cough in Indian pediatric practice: airway disease education and expertise 2.0 (2024)

Cough in children is one of the most frequent presenting symptoms in health care settings. Coughing can significantly affect a child's sleep and level of activity, which often causes parents’ distress. Promptly addressing chronic cough may enhance the quality of life in children and reduce the considerable stress on parents. In 2017, airway disease education and expertise (ADEX) NEXT recommendations for diagnosis, management, and follow-up of persistent (chronic) cough were published. For the present work 27 modified Delphi consensus statements were prepared, and a survey was undertaken involving 30 expert pediatricians from across India. The opinions of the expert panel on the updates related to pediatric chronic cough awareness, diagnosis, and management were collected. Consensus was predetermined to be obtained if more than 75% of the participants agreed or remained neutral for the statement. All the statements were supported by the latest data from the literature search. All the statements reached consensus after an agreement of more than 75%. Consequently, all the opinions from experts were consolidated and expert recommendations were framed. Children presenting with cough should be treated in accordance with child-specific guidelines. The present expert recommendations can be utilized by pediatricians to make well-informed decisions when treating pediatric patients with cough. The management of cough in children should be determined by the underlying cause, where a prompt and efficient therapy can result in early resolution.

Histopathologic Patterns of Urinary Bladder Lesions and Associated Factors in Hawassa University Comprehensive Specialized Hospital, Sidama Region, Ethiopia

Background: Urinary bladder lesions, non-neoplastic and neoplastic, are collectively responsible for significant morbidity and mortality throughout the world. Bladder cancer is a prevalent disease affects a significant number of individuals each year worldwide. The most common non-neoplastic and neoplastic lesion of the urinary bladder is non-specific cystitis and urothelial carcinoma respectively. Objectives: The aim of this study is to describe histopathologic patterns of urinary bladder lesions and associated risk factors in Hawassa University Comprehensive Specialized Hospital from January 2017 to December 2023. Methods: A 7-year cross sectional study was conducted to describe histologically diagnosed bladder lesions and associated factors at Hawassa University Comprehensive Specialized Hospital from January 2017 to December 2023. Results: This study comprised a total of 182 patients who have bladder biopsies at Hawassa University Comprehensive Specialized Hospital, Pathology department from January 2017 to December 2023. Out of which 21 cases (12.1%) are non-neoplastic, while 152 cases (83%) are neoplastic. Nine cases (4.9%) have a descriptive diagnosis. With 139 (90.44%) cases, urothelial neoplasms have the highest frequency form all neoplastic lesions. Ninety-seven cases, or 69.8%, of urothelial neoplasms were invasive; of them, 78 (80.4%) were high grade cases. Low-grade noninvasive papillary carcinomas, which accounted for 24 instances. One case is a cystectomy specimen, and the remaining 181 cases are TURBT. The age range of 50-59 years was the most frequent accounting for 39 (21.4%) of all cases, with a male to female (M: F) ratio of 2.9:1. The most frequent presenting symptom in 146 (85.7%) of patients was hematuria. Conclusions: This study demonstrates that 139 (90.44%) of the neoplastic bladder lesions were bladder neoplasms of urothelial origin, 97 (69.8%) of which are invasive urothelial carcinoma with rising numbers each year and implying the burden in the region.

Lingual artery thrombosis as a presentation of infective endocarditis in a pregnant patient; a case report

Abstract Background Infective endocarditis during pregnancy is a rare condition that compromises the health of both the mother and the fetus, presenting high rates of morbidity and mortality. The clinical manifestations of this disease are varied, with embolic phenomena being a frequent presentation. Case summary We report the case of a 37-year-old patient, at 29 weeks of pregnancy, with no known cardiovascular history, who presented with 48 hours of sudden mandibular and lingual pain. The study showed acute thrombosis of the right lingual artery and the rest of the right external carotid artery. In this context, searching for the origin of the embolism, acute mitral valve endocarditis was diagnosed, which was effectively treated with antibiotic therapy and biological mitral valve replacement, as well as early cesarean delivery. Discussion We report the first case where lingual artery thrombosis was the key diagnostic feature of infective endocarditis.

Cognitive and academic outcomes in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

To describe the impact of paediatric myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) on academic and cognitive outcomes. This was an observational, retrospective, and descriptive single-centre study, carried out on a paediatric case series of children with MOGAD. A total of 51 patients were included (22 females); their median age was 8 years and the median follow-up duration was 31.1 months (interquartile range 23.5). The most frequent clinical presentation was acute disseminated encephalomyelitis (54.9%), followed by optic neuritis (35.5%). At the last follow-up, regardless of the clinical phenotype at disease onset, 39.5% of patients with MOGAD received academic and educational interventions (p < 0.05 compared to before disease onset), including academic accommodations (p < 0.05) or the need for a learning support assistant (p < 0.05). Ten patients were evaluated with the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V). The overall IQ was calculated for six patients (mean = 92); two of these patients had an IQ lower than 85. No difference was found regarding prenatal and neonatal neurodevelopmental characteristics between this cohort and the general population. MOGAD was associated with a need for academic support; lower scores were found on the WISC-V. Patients with MOGAD should receive cognitive and academic assessments to inform educational planning and support academic success.

Variables Associated With Favorable Obstetrical Outcomes in Early Pregnancy Bleeding in the Emergency Department.

Background Vaginal bleeding in early pregnancy is a frequent emergency department presentation and is associated with various obstetrical outcomes. Despite this, there has been limited research on the variables that predict less-than-preferred obstetrical outcomes in these cases. This study aims to identify predictors of preferred obstetrical outcomes for women presenting to the emergency department with early pregnancy bleeding. Methods We conducted a retrospective review of health records from an emergency department at a Canadian tertiary care center. Pregnant females presenting with vaginal bleeding before 20 weeks gestation were included. Variables analyzed included maternal age, gravidity, parity, hemoglobin levels, Rh status, cramping, socioeconomic status, and ultrasound findings. The primary outcome was a preferred outcome, defined as a full-term live birth (≥37 weeks). Less-preferred outcomes included miscarriage, preterm birth, and stillbirth. Point-of-care ultrasound and radiology ultrasound findings were also evaluated. Results A total of 422 patients were screened, and 180 were included in the analysis. Overall, 75 (41.7%) patients had a preferred outcome, while 105 (58.3%) had a less-preferred outcome. The strongest predictor of a preferred outcome was the presence of a live intrauterine pregnancy with fetal heartbeat onultrasound, with a preferred outcome rate of 74.5% (56/76) (95% CI 59.8-88.7; p < 0.01) on point-of-care ultrasound (POCUS), and 100% (65/65); p = 0.04 for radiology-performed ultrasound. In contrast, 80.8% (21/26) of patients with findings other than a live intrauterine pregnancy onPOCUS, and 100% (88/88) on radiology-performed ultrasound had a less-preferred outcome. Cramping with bleeding was associated with a higher rate of less-than-preferred outcomes (62.1%, 77/124; 95% CI 54.2-71.1; p = 0.07). Socioeconomic status was not a significant predictor, with similar outcomes above and below the poverty line. Anemia was associated with a 100% non-live birth rate, although only 5 patients were anemic. Conclusion Identification of a live intrauterine pregnancy onultrasound is a strong predictor of a preferred outcome in early pregnancy bleeding. POCUS has the advantage of being immediately available, whereas radiology-performed ultrasound may be more definitive as a predictor. Cramping and anemia may also be associated with less-preferred outcomes, though further research is needed to confirm these findings. These predictors may help guide clinical decision-making and improve counseling for patients presenting to the emergency department with early pregnancy bleeding.

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.

This scientific report aims to investigate the genotype-phenotype correlations of retinal hemangioblastoma (RH) in von Hippel-Lindau (VHL) disease. The study included 77 patients with genetically confirmed VHL disease who visited an ophthalmology clinic for the evaluation of RH. The presence, location, and size of RH were evaluated, Patients were categorized into three groups based on variants: HIF-1α binding site missense (HM), non-HIF-1α binding site missense (nHM), and truncating (TR) mutations. Fifty-six patients (72.7%) had RH in either eye, and 24 had bilateral RH. Sixteen patients (20.8%) had juxtapapillary RH in either eye. Nine patients had RH ≥ 2.0 disc diameters in size. VHL c.208G>A variant was the most frequent single mutation. Compared with patients having nHM mutations (15 patients) in VHL gene, patients with HM mutations (33 patients) or TR mutations (26 patients) presented a greater number of eyes affected (p = 0.007 and 0.004, respectively), a greater number of RH (p = 0.012 and 0.003, respectively), and more frequent presentation of large RH ≥ 2.0 disc diameters (p = 0.012, and 0.013, respectively). In conclusion, this study provides a deeper understanding of the genetic spectrum of VHL disease in Korean VHL disease and highlights the importance of the location of missense mutations regarding the risk of RH.

Clinical presentation, management and outcome of maxillofacial fractures in pet rabbits: 27 cases (2008-2022).

To report clinical findings, management strategies and outcomes in pet rabbits with maxillofacial fractures. Medical records of pet rabbits with confirmed maxillofacial fractures from three exotic animal veterinary services between 2008 and 2022 were reviewed. Forty-five fractured maxillofacial bones were reported in 27 rabbits, including mandibular symphyseal separation in 13 rabbits. Median age was 18 months (interquartile range, 7 to 38 months), and median bodyweight was 1.70 kg (interquartile range, 1.36 to 2.33 kg). The most common aetiology was anthropogenic accidents (16/27). Hyporexia/anorexia was the most frequent presenting complaint (17/27). Common clinical findings included dental malocclusion (12/27), craniofacial pain (9/27), crepitus (9/27) and swelling (7/27). Three (3/27) rabbits were euthanised after diagnosis. Mandibular symphyseal separation in 11 of 12 treated rabbits were addressed using circummandibular cerclage wiring. All remaining fractures were conservatively managed. Twenty-three of 27 rabbits survived to hospital discharge. Median time of return to normal or near-normal eating was 1 day (interquartile range, <1 to 3 days). Median survival time was 859 days (interquartile range, 567 to 1092 days). Dental malocclusion was a reported complication in 12 of 16 rabbits with follow-up data. However, only five of 12 rabbits developed associated clinical signs requiring corrective dentistry. Maxillofacial fracture in rabbits may present with similar clinical signs and findings to other conditions such as odontogenic disease. Successful outcomes with infrequent long-term clinical complications are associated with management strategies that emphasise early functional recovery.

7534 Characterizing The Presentation Of Non-Classical Congenital Adrenal Hyperplasia

Abstract Disclosure: S. Patel: None. M. Skamagas: None. A.C. Levine: None. M. Yau: None. Introduction: 21-hydroxylase deficiency, due to CYP21A2 gene mutations, is the most common steroidogenic enzymatic defect causing congenital adrenal hyperplasia (CAH). Disease severity is categorized into the classical and milder, non-classical (NCAH) form. Many patients go undiagnosed due to variable presentation and delayed onset. We aim to investigate the specific presenting concerns, age of onset, and genotypes associated with NCAH. Methods: A retrospective chart review of 285 patients with CAH seen over the past 2 years at our academic pediatric and adult endocrine clinics was performed. Records were reviewed for presenting concerns and age of symptom onset. CYP21A2 gene analysis was performed commercially via multiplex ligation-dependent probe amplification or next generation sequencing. Results: Of the 165 patients classified with NCAH, genotypes were available for 124 patients. Of the patients with a V281L allele, 43 were homozygous and 49 were heterozygous. 7 patients had the P30L allele and 7 had other allele combinations. The overall most common presenting concerns were early pubarche (29%), hirsutism (28%), and irregular menses (26%). In V281L homozygotes, family history most commonly led to diagnosis (30%). In patients with V281L heterozygosity or the P30L allele, the predominant concern was early pubarche (37% and 43% respectively). 15% of patients were screened prenatally or only due to family history and were asymptomatic at diagnosis. Patients’ age at diagnosis ranged from 0-40 years, with the mean age at diagnosis for the total group being 13.3 ± 8.9 years. Mean age of onset in symptomatic V281L homozygotes (15.4 ± 7.9 years) trended toward an older age compared to symptomatic V281L heterozygotes (15.1 ± 10.5 years) (P value = 0.90). Those who were heterozygous for V281L/P30L or undetermined whether homozygous for V281L or heterozygous with a deletion were excluded from age of onset comparisons. Discussion: The mean age of symptom onset was in adolescence and did not differ significantly between V281L homozygotes and heterozygotes. Early pubarche is a frequent presenting symptom in children with NCAH, and our data support this finding. P30L has been associated with a more severe phenotype than V281L, and in our cohort, the only patient presenting in adrenal crisis had a genotype with a P30L mutation. As NCAH is one of the most common autosomal recessive disorders in humans and there is an allelic predominance of V281L in NCAH patients, it is not surprising that a large percentage of V281L homozygotes were diagnosed due to family history prior to developing symptoms. Such patients need to be followed clinically and our data describing symptom onset could be useful in counseling these families and those with prenatal diagnoses. Presentation: 6/1/2024

OTHR-07 A DESCRIPTIVE EPIDEMIOLOGICAL PROFILE OF BRAIN TUMOURS IN CAMEROON

Abstract Cancer is a significant threat to public health and a leading cause of morbidity across the globe. In low- and middle-income countries, the delay in diagnosis and access to treatment has contributed to the poor outcome of brain tumors. In Cameroon, epidemiological studies on brain tumors are scarce, which contributes to the lack of knowledge of the disease behavior in our local community. We conducted a descriptive epidemiological analysis based on review of patient’s records at the Cameroon Oncology Center in Douala from 1/1/2018 to 31/12/2023. A total of 2600 charts were reviewed, of which 1.9% of the patients carried a brain tumors diagnosis. Females accounted for 34(68.0%) of the cases and the mean age was 45.4 years (SD=17.9). The most recorded types of brain tumors were brain metastasis (n=25, 50.0%), glioblastoma (n=7, 14.0%), and gliomas (n=6, 12.0%). The most common clinical manifestation associated with brain tumors included headaches (n=32, 34.4%), visual disturbance (n=18, 19.4%), and motor deficit (n=15, 16.1%).In this oncology center, Adults represent the most affected population with brain tumors because most of the children were managed at specialized pediatric oncology centers, with a female: male ratio of 3:1. Brain metastasis was the common type of brain tumor, headache was the most frequent clinical presentation.

Epithelioid Fibrous Histiocytoma Is on a Continuum With Superficial ALK-rearranged Myxoid Spindle Cell Neoplasm: A Clinicopathologic Series of 35 Cases Including Alternate RET and NTRK3 Fusions.

Anaplastic lymphoma kinase (ALK) rearrangements drive most examples of epithelioid fibrous histiocytoma (EFH) and have been reported in an emerging family of receptor tyrosine kinase (RTK) fusion-positive mesenchymal neoplasms, including superficial ones described under the rubric of "superficial ALK-rearranged myxoid spindle cell neoplasm" (SAMS). Here, we describe 35 superficial tumors with SAMS morphology, which occurred in 18 females (51%) and 17 males at a median age at presentation of 39 years (range: 6 to 82y). Most tumors occurred on the lower extremity (25 tumors; 71%), followed by upper extremity (5; 14%), trunk (3; 9%), and face (2; 6%). Nine tumors were reported to have grown slowly before presentation, including >10 years in 2 cases. Tumors occurred primarily in the dermis (32 tumors; 91%) or subcutis (3; 9%); 8 dermal tumors extended into the subcutis. Median tumor size was 1.3cm (range: 0.5 to 8.0cm). Clinical follow-up was available for 12 patients (34%; range: 2mo to 21y; median: 2.7y), none of whom experienced metastasis. One incompletely resected tumor recurred locally at 19 months, and no other patients experienced recurrence. Histologically, tumors were characterized by bland spindle-to-ovoid cells showing whorled growth and myxoid-to-collagenous stroma. Recurrent features included an epidermal collarette (19/30; 63%), perivascular hyalinization (20/35; 57%), amianthoid collagen (14/35; 40%), and metaplastic ossification (2/35; 6%). Immunohistochemistry (IHC) demonstrated expression of ALK (24/31; 77%), CD34 (15/21; 71%), EMA (17/28; 61%), and S-100 (9/32; 28%). Eleven tumors showed hybrid morphologic features between EFH and SAMS; 9 of them (82%) showed cytomorphology typical of EFH but with whorled growth, myxoid stroma, and/or regions of spindle cell morphology. Two hybrid tumors showed sharp transitions between a region characteristic of EFH and a region characteristic of SAMS, with a concomitant sharp transition in EMA, CD34, and S-100 expression by IHC. Sequencing revealed ALK fusions in 15 of 19 tumors: 2 each with fusion partners FLNA, SQSTM1, and VCL, and 1 each with COL1A2, DCTN1, EML4, FXR1, MPRIP, PLEKHH2, PRKAR1A, SPECC1L, and TLN2. Thirteen of 14 ALK-rearranged tumors expressed ALK by IHC. Three tumors negative for ALK fusions instead harbored alternate RTK fusions (NCOA4::RET, TRIM27::RET, and VIM::NTRK3), and 1 tumor was negative for RTK alterations. CDKN2A/B deletions were found in 2 tumors with ALK fusions and both tumors with RET fusions. SAMS is on a morphologic and molecular genetic spectrum with EFH, with a similar body site distribution, frequent clinical presentation as an exophytic skin tumor, and invariably benign outcomes; we conclude that SAMS should be considered a histologic variant of EFH. Some morphologically typical examples harbor alternate RET and NTRK3 fusions, such that SAMS is not an appropriate designation for this morphologic class; instead, to highlight the clinicopathologic similarities to EFH, we propose the diagnostic term "myxoid spindle cell variant of epithelioid fibrous histiocytoma."

Myopic traction maculopathy in fovea-involved myopic chorioretinal atrophy.

To assess the specific features of myopic traction maculopathy (MTM) in the context of myopic macular atrophy (MA). The evolution, surgical considerations, optimal surgical procedures, and results were studied. Retrospective, consecutive cases collection was performed for highly myopic eyes with MA (category 4, the classification system of META-analysis for Pathologic Myopia). Eighty-seven eyes of 75 patients with MA were included. The characteristics and evolution of the MTM were analyzed. Surgical indications and outcomes were evaluated and specific surgical features and techniques were assessed. Approximately half (50.6%) of the cases with MA presented with various stages of MTM. The majority were maculoschisis with a lamellar macular hole (LMH) and were characterized by an O-shaped LMH, high outer retinal schisis, thin floor, and a high percentage of thickened epiretinal tissue. Half (50%) of them either displayed maculoschisis progression (61%) or developed into macular hole with retinal detachment (39%), and all received surgical intervention. The inverted ILM flap technique, with or without fovea-sparing ILM peeling, was the most frequently used surgical technique (78%). Complete traction relief was achieved in most cases (94%). MA contributes to the specific configuration and evolution of MTM, and characteristic maculoschisis with LMH is a frequent presentation in MA patients. MHRD development and structural progression were two major reasons for surgical intervention. Vitrectomy with inverted ILM flap effectively stabilized the macular structure with few recurrences.

Diagnostic Accuracy of Circulating Tumor HPV DNA Testing in Patients With a Lateral Neck Mass

The most frequent presenting symptom for patients with human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (OPSCC) is a lateral neck mass. Circulating tumor tissue-modified viral (TTMV)-HPV DNA is a unique biomarker produced by the fragmentation of HPV DNA during the degradation of HPV-associated tumors, and its detection and quantitation are currently being used as an adjunct to imaging in monitoring for disease recurrence and may have utility for diagnosis. To measure the diagnostic characteristics of TTMV-HPV DNA compared with gold standard tissue biopsy for diagnosing HPV-OPSCC in patients presenting with an indeterminate lateral neck mass. This prospective diagnostic test study enrolled patients 18 years or older who presented with a lateral neck mass to a large urban tertiary health care system from December 2021 to June 2023. Participants underwent standard-of-care testing to obtain a tissue diagnosis and a single TTMV-HPV DNA measurement. The primary outcome of interest was sensitivity, while specificity, positive predictive value, and negative predictive value were secondary end points. A subset analysis was performed comparing test performance metrics between TTMV-HPV DNA testing and fine-needle aspiration. A total of 138 patients were included, of whom 80 (58.0%) were men, with median age of 57.5 years (IQR, 43.3-67.0 years). Of 138 patients, 87 (63.0%) had neck masses in level 2 and 47 (34.1%) had HPV-OPSCC. TTMV-HPV DNA testing exhibited a sensitivity of 95.7% (95% CI, 85.5%-99.5% [45 of 47 patients]), specificity of 97.8% (95% CI, 92.3%-99.7% [89 of 91 patients]), positive predictive value of 95.7% (95% CI, 85.5%-99.5% [45 of 47 patients]), and negative predictive value of 97.8% (95% CI, 92.3%-99.7% [89 of 91 patients]). In this diagnostic study of patients presenting with a lateral neck mass, circulating TTMV-HPV DNA demonstrated excellent diagnostic test characteristics for the detection of HPV-OPSCC. Such testing may have particular utility for patients in whom obtaining adequate tissue is problematic, as is often the case with cystic neck masses and unknown primary tumors.

Gastrointestinal Bleeding After Percutaneous Coronary Intervention: Incidence, Risk Factors, and Outcomes.

Percutaneous coronary intervention (PCI) is a well-established method for treating coronary artery disease. However, stent implantation necessitates the use of antiplatelet agents, which increases the risk of gastrointestinal bleeding (GIB). This study aims to assess the incidence, etiology, and outcomes of GIB within one year post-PCI at Sultan Qaboos University Hospital (SQUH), Muscat, Oman. This retrospective analysis included 435 patients who underwent PCI at SQUH between January and December 2017, excluding those with multiple PCI procedures and incomplete data. GIB was defined using the thrombolysis in myocardial infarction (timi) bleeding score. Statistical analysis was performed using IBM SPSS Statistics for Windows, version 23 (IBM Corp., Armonk, NY) with binary logistic regression employed to identify significant risk factors for GIB. A p-value < 0.05 was considered statistically significant. GIB was identified in 15 patients (age 67.8 ± 8.8 years; 60% male), resulting in an incidence within one year post-PCI of 3.4%. Melena (53.3%) and hematemesis (20.0%) were the most frequent clinical presentations, with peptic ulcer disease being the predominant underlying etiology (40%). Significant risk factors included advanced age, chronic kidney disease, pre-existing peptic ulcer disease, and the use of non-steroidal anti-inflammatory drugs. The incidence of GIB observed in this study aligns with previously reported rates. These findings highlight the importance of pre-PCI risk stratification for bleeding, especially in high-risk patients. Prophylactic measures, such as the use of gastric protective agents, should be considered to mitigate the risk of GIB in patients undergoing PCI.

Rates and predictors for sustained ventricular tachycardia in patients with cardiac sarcoidosis and AV block as first cardiac presentation: Implications for device implantation

BackgroundAtrioventricular block (AVB) is a frequent initial presentation of cardiac sarcoidosis (CS), but dangerous ventricular arrhythmias (VA) can occur. Despite the scarcity of data, guidelines recommend implantable cardioverter-defibrillator (ICD) rather than a pacemaker implantation whenever a device is needed. ObjectiveIn this study, we aimed to establish predictors for sustained VA in patients with CS presenting with pacing indication because of an AVB. MethodsWe prospectively enrolled 112 patients with CS. Excluding those with VA, 82 patients remained and were divided into 2 groups: 34 individuals with AVB as initial presentation and 48 with other symptoms as first presentation (OSF). Both groups were compared for clinical characteristics, rates of VA, left ventricular assist device (LVAD) implantation, heart transplantation, and mortality. ResultsDuring follow-up, VA was detected in 50% in the AVB and 10.4% in the OSF group (P = .001). Death, LVAD implantation, and heart transplantation occurred in 11.8% in AVB group vs 10.4% in the OSF group (P = .847). Late gadolinium enhancement (LGE) was equally observed in both groups: 70% vs 70.5% (P = .966), whereas more patients in the AVB group exhibited abnormal positron emission tomography (PET) uptake: 86.2% vs 54.3% (P = .007). In multivariate analysis, AVB (hazard ratio [HR], 25.15), right ventricular (RV) LGE in cardiovascular magnetic resonance (CMR) (HR, 7.39) were predictors for VA occurrence, whereas the use of immunosuppressive therapy was associated with less VA (HR, 0.26). ConclusionsPatients with CS presenting with AVB have a high risk of sustained VA. Although immunosuppressive drugs may reduce the occurrence of VA, ICD implantation is reasonable, especially in case of RV LGE.

Complex Fractures of the Radial and Ulnar Shaft.

Successful management of radial and ulnar shaft fractures is an essential skill for all orthopaedic surgeons. The frequent presentation of these injuries coupled with the nuanced anatomic considerations that must be observed for successful outcomes dictate that these injuries require a thorough understanding by the treating surgeon. Intraoperative care to restore the anatomic radial bow and rotation is essential for the resumption of functional forearm rotation postinjury. Often, problems arising during the operative treatment of radial and ulnar shaft fractures come in predictable patterns that can be mitigated with preoperative planning and sound technique. Cases of increased complexity with segmental bone defects and soft tissue defects require a variety of advanced reconstructive techniques.

Socioeconomic determinants of very frequent presentations to emergency departments in New South Wales, Australia: A state wide data linkage study

ObjectivesTo describe the clinical and longitudinal patterns of presentation, and to understand the underlying socioeconomic characteristics of different modes of presentation. DesignRetrospective state-wide data linkage analysis of emergency department (ED) presentations. Patients were included if they were 18 years of age or over and presented to the ED over twenty times within any consecutive 365-day period between January 2015 and December 2020. This analysis used routinely collected data from the Emergency Department Data Collection and Admitted Patient Data Collection. The quintile of Socioeconomic Indexes for Area (SEIFA) defined by Australian Bureau of Statistics was used for equity considerations. Main outcome measuresThe main outcomes of interest included patients’ clinical presentation, demographic information and SEIFA score as represented by Index of Relative Socioeconomic Advantage and Disadvantage (IRSAD) quintiles. ResultsThere were 417,154 presentations and 5,244 patients who met the inclusion criteria. The majority of the presentations were from SEIFA groups 1 (28.2 %) and 2 (35.6 %). The most common presentations were for drug and alcohol (17.5 %), followed by abdominal pathology (11.8 %) and mental health (11.5 %). In the lowest SEIFA group, the main presenting complaints were for drug and alcohol and administrative presentations. While in the highest SEIFA group, the main presentations were for mental health then abdominal pain, followed by drug and alcohol presentations. ConclusionPatients in the lower SEIFA groups tended to be older with lower acuity presentations and were more likely to present to the same facility, more regularly. Patients in the lower SEIFA group were also more likely to present with drug and alcohol and administrative presentations while those in the higher SEIFA groups were more likely to present with mental health presentations. System wide interventions are needed to address the needs of both groups, particularly those from lower socioeconomic backgrounds, who would benefit from improved access to primary care either through access to General Practice or Urgent Care Centres.