Presence Of Symptoms In Patients Research Articles

Treatment-Resistant Mood Disorders.

The objective of the study was to explore the presentation of symptoms in patients suffering from treatment-resistant mood disorder (TRMD), and associated clinical features, including age, gender, and comorbid conditions, that lead towards the development of treatment-resistant mood disorder. Furthermore, the study analyses the available psychotherapeutic treatment modalities and evidence-based non-medical treatment approaches for TRMD. The current study utilized a systematic review approach where 37 articles were studied and three articles were theoretically sampled to authenticate and signify the findings. PRISMA guidelines were followed and the review was conducted by searching social sciences databases and electronic libraries including Google Scholar, Sage Journal, and Science Direct (1990-2020). The results suggested that psychotherapeutic interventions including cognitive behavior therapy, mindful-based cognitive therapy; and interpersonal and social rhythm therapeutic interventions are efficacious modalities for treatment when in augmentation with psychopharmacological treatment. Bipolar diathesis and comorbid conditions of anxiety and personality disorders are possible causal factors in developing the condition of treatment resistance in mood disorders. The prevalence rate of TRMD is more common in females and in late adulthood. The analysis also suggests that there are numerous risk factors contributing to making a mood disorder treatment-resistant over a period of time; the most observed conditions were physical and psychological comorbidity, inaccurate diagnosis, lack of proper medical treatment, illness severity, and late age diagnosis. In evidence-based non-medical treatment approaches aerobics demonstrated promising results in improving the condition of complex mood disorders. It was concluded that psychotherapeutic interventions in augmentation with pharmacological modalities enhance the efficacy of treatment.

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.

Neurological complications caused by SARS-CoV-2.

SUMMARYSARS-CoV-2 can not only cause respiratory symptoms but also lead to neurological complications. Research has shown that more than 30% of SARS-CoV-2 patients present neurologic symptoms during COVID-19 (A. Pezzini and A. Padovani, Nat Rev Neurol 16:636-644, 2020, https://doi.org/10.1038/s41582-020-0398-3). Increasing evidence suggests that SARS-CoV-2 can invade both the central nervous system (CNS) (M.S. Xydakis, M.W. Albers, E.H. Holbrook, et al. Lancet Neurol 20: 753-761, 2021 https://doi.org/10.1016/S1474-4422(21)00182-4 ) and the peripheral nervous system (PNS) (M.N. Soares, M. Eggelbusch, E. Naddaf, et al. J Cachexia Sarcopenia Muscle 13:11-22, 2022, https://doi.org/10.1002/jcsm.12896), resulting in a variety of neurological disorders. This review summarized the CNS complications caused by SARS-CoV-2 infection, including encephalopathy, neurodegenerative diseases, and delirium. Additionally, some PNS disorders such as skeletal muscle damage and inflammation, anosmia, smell or taste impairment, myasthenia gravis, Guillain-Barré syndrome, ICU-acquired weakness, and post-acute sequelae of COVID-19 were described. Furthermore, the mechanisms underlying SARS-CoV-2-induced neurological disorders were also discussed, including entering the brain through retrograde neuronal or hematogenous routes, disrupting the normal function of the CNS through cytokine storms, inducing cerebral ischemia or hypoxia, thus leading to neurological complications. Moreover, an overview of long-COVID-19 symptoms is provided, along with some recommendations for care and therapeutic approaches of COVID-19 patients experiencing neurological complications.

The Diagnostic Pathway of Hirschsprung's Disease in Paediatric Patients: A Single-Centre Experience.

The presenting symptoms of patients with Hirschsprung's disease (HD) are a failure to pass meconium, abdominal distension, and bilious vomiting. The gold standard diagnosis is a rectal biopsy to confirm aganglionosis. The aim of our study was to describe the diagnostic pathway of Hirschsprung's disease at our institution and document the indication for a rectal biopsy. We have performed a prospective collection of all patients who underwent a rectal biopsy to exclude HD from December 2022 until September 2023 including. The following data were collected: patient's age, presenting symptoms, type of biopsy, failure rate, complications, and histopathological results. We identified 33 patients who underwent 34 rectal biopsies at 0.6 years of age. A total of 17 patients had a rectal suction biopsy (RSB), and 17 patients underwent a partial thickness under general anaesthesia (GA). 1/17 (6%) patients had an inconclusive RSB and subsequently underwent a biopsy under GA. Constipation and chronic abdominal distension plus vomiting were the most common presenting symptoms throughout all ages. Five patients (15%) had a rectal biopsy that was positive for HD. A protocolised approach to the assessment of infants and children with suspected HD ensures the appropriate utilisation of invasive procedures such as biopsy.

A rare case of spinal involvement in hereditary hemorrhagic telangiectasia

IntroductionHere, we describe a rare case of a spinal arteriovenous fistula in a patient with known hereditary hemorrhagic telangiectasia (HHT) and spontaneous intraspinal hemorrhage. Furthermore, we provide a brief review of the literature on the formation of spinal arteriovenous malformations (AVM) in relation to this disease.Case presentationThe case involves a 54-year-old male with known HHT. At the age of 49, the patient experienced recurrent cystitis. Urological evaluation ruled the cause to be neurological and subsequent imaging revealed a thoracic AVM. Four years later, the patient was admitted to A&E with chest pain and loss of function of the lower extremities and right arm, suspicious for ruptured aortic dissection. Trauma-CT excluded this and a final diagnosis of ruptured spinal AVM was made. Seven months post-injury, a spinal angiography was performed confirming the AVM. The remaining AVM was embolized under general anesthesia with acceptable results.DiscussionSpinal involvement in HHT is exceedingly rare but remains an important differential diagnosis, especially when patients present autonomic symptoms as these could potentially progress to life-threatening complications. The literature and the presented case indicate the prudence of closing spinal AVMs in HHT in case of symptoms, including autonomic, such as bladder dysfunction.

Value of a secretomic approach for distinguishing patients with COVID-19 viral pneumonia among patients with respiratory distress admitted to intensive care unit.

In intensive care units, COVID-19 viral pneumonia patients (VPP) present symptoms similar to those of other patients with Nonviral infection (NV-ICU). To better manage VPP, it is therefore interesting to better understand the molecular pathophysiology of viral pneumonia and to search for biomarkers that may clarify the diagnosis. The secretome being a set of proteins secreted by cells in response to stimuli represents an opportunity to discover new biomarkers. The objective of this study is to identify the secretomic signatures of VPP with those of NV-ICU. Plasma samples and clinical data from NV-ICU (n = 104), VPP (n = 30) or healthy donors (HD, n = 20) were collected at Nantes Hospital (France) upon admission. Samples were enriched for the low-abundant proteins and analyzed using nontarget mass spectrometry. Specifically deregulated proteins (DEP) in VPP versus NV-ICU were selected. Combinations of 2 to 4 DEPs were established. The differences in secretome profiles of the VPP and NV-ICU groups were highlighted. Forty-one DEPs were specifically identified in VPP compared to NV-ICU. We describe five of the best combinations of 3 proteins (complement component C9, Ficolin-3, Galectin-3-binding protein, Fibrinogen alpha, gamma and beta chain, Proteoglycan 4, Coagulation factor IX and Cdc42 effector protein 4) that show a characteristic receptor function curve with an area under the curve of 95.0%. This study identifies five combinations of candidate biomarkers in VPP compared to NV-ICU that may help distinguish the underlying causal molecular alterations.

A Comprehensive Review of Lyme Disease: A Focus on Cardiovascular Manifestations.

Lyme disease is a tick-borne illness known for its ability to cause multi-systemic manifestations. It can affect several different systems, including neurological, musculoskeletal, and dermatological systems. However, one of the most concerning biological systems affected is the cardiac system. Lyme carditis typically presents with varying degrees of atrioventricular (AV) block. Additionally, current literature also endorses atypical manifestations, including but not limited to atrial fibrillation and bundle branch blocks. These atypical manifestations are important as they can be the first presenting symptoms in patients with Lyme disease. Therefore, educating clinicians on various signs, symptoms, and manifestations of Lyme carditis remains paramount in reducing morbidity and mortality.We conducted a literature review using PubMed, MEDLINE, and CINAHL, collecting a total of 13 articles to gather information on atypical manifestations of Lyme carditis. This literature review serves to summarize the current research and studies describing these cardiac manifestations and the cardiac pathophysiology associated with Lyme disease. These findings aim to contribute to the expanding understanding of Lyme carditis, subsequently preventing long-term effects through prompt diagnosis and treatment.

Comorbidity of depression and anxiety with obstructive sleep apnea in a sample of Egyptian patients

Abstract Background Over the past 2 decades, sleep researchers have made significant advances in understanding sleep disorders including obstructive sleep apnea (OSA). OSA commonly coexists with psychiatric disorders encompassing mental health issues like depression, anxiety, bipolar, schizophrenia an others. This study aims to assess the comorbidity of OSA with depression and anxiety disorders among Egyptian patients. During the study, we conducted a cross-sectional study involving 92 adults diagnosed with OSA. Those patients were interviewed using a checklist to gather information regarding their chief complaints and other associated symptoms. The psychological status was assessed utilizing the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID I), Beck Anxiety Inventory (BAI), and Beck Depression Inventory (BDI) scoring. The severity of the breathing disorder was classified as mild, moderate, or severe based on the respiratory disturbance index (RDI), which was confirmed through overnight polysomnography. Daytime sleepiness was assessed by the Epworth Sleepiness Scale (ESS). Results The sample of patients as a whole shows that witnessed apneas represent the highest percentage (70.7%), followed by fatigue (69.6%), then non-refreshing sleep (67.4%), and snores (63.0%). The least frequent presenting symptom is frequent naps. The majority of OSA patients have a comorbid psychiatric disorder (65.0%). Among these, depressive disorders are the most prevalent (31.5%), followed by anxiety disorders (23.9%) and psychoses (6.5%). It is worth noting that 38% of OSA patients do not have any psychiatric disorders. In terms of anxiety disorders, the most common subtype observed is OCD (8.7%), followed by GAD (6.5%), panic (5%), and PTSD (3.3%). As regards depressive disorders, the predominant subtype present is depressive disorder not otherwise specified (11.9%), followed by dysthymic disorder and major depressive disorder (8.7% for each), and then bipolar disorder (depression) at 2.2%. Conclusions We conclude the following: 1. OSA patients are likely to present with comorbid depression and/or anxiety disorder(s). 2. Fatigue was found to be the most prevalent presenting symptom in OSA patients with comorbid anxiety compared to those without anxiety.

Time to Diagnosis and Presenting Symptoms of Patients Diagnosed With Cancer Through Emergency and Nonemergency Routes: A Large Retrospective Study From a High-Volume Center.

The symptoms with which a patient with cancer presents and the route taken to diagnosis (emergency v nonemergency) may affect the speed with which the diagnosis of cancer is made, thereby affecting outcomes. We examined time to diagnosis by symptom for cancers diagnosed through emergency and nonemergency routes (NERs). We performed a retrospective review of patients diagnosed with 10 solid cancers at Hospital Clínic of Barcelona between March 2013 and June 2023. Cancers were diagnosed through emergency presentation and admission (inpatient emergency route [IER]), emergency presentation and outpatient referral (outpatient emergency route [OER]), and primary care presentation and outpatient referral (NER). We assessed the effect of diagnostic routes on intervals to diagnosis for 19 cancer symptoms. A total of 5,174 and 1,607 patients were diagnosed with cancer through emergency routes and NERs, respectively. Over 85% of patients presenting with alarm (localizing) symptoms such as hematuria through emergency routes were diagnosed with the expected cancer, whereas those with nonlocalizing symptoms such as abdominal pain had a more heterogeneous cancer-site composition. Median intervals were shorter for alarm than nonlocalizing symptoms and tended to be shorter in IERs than OERs. However, for most symptoms, intervals in both routes were invariably shorter than in the NER. For example, diagnostic intervals for hematuria and abdominal pain were 3 and 5 days shorter in IERs than OERs, but they were 5-8 and 17-22 days shorter than in the NER, respectively. For patients with alarm symptoms, intervals were shorter than for those with nonlocalizing symptoms and, for most symptoms, intervals were shorter when patients were evaluated by emergency routes rather than NERs.

Metastatic Pancreatic Cancer: Where Are We?

Pancreatic cancer is one of the most lethal neoplasms worldwide; it is aggressive in nature and has a poor prognosis. The overall survival rate for pancreatic cancer is low. Most patients present non-specific symptoms in the advanced stages, which generally leads to late diagnosis, at which point there is no option for curative surgery. The treatment of metastatic pancreatic cancer includes systemic therapy, in some cases radiotherapy, and more recently, molecular targeted therapies, which can positively impact cancer control and improve quality of life. This review provides an overview of the molecular landscape of pancreatic cancer based on the most recent literature, as well as current treatment options for patients with metastatic pancreatic cancer.

Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

BackgroundFamilial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare genetic disorder characterized by progressive cognitive decline and myoclonic epilepsy, caused by pathogenic variants of SERPINI1. We reported a case of genetically confirmed FENIB with de novo H338R mutation in the SERPINI1, in which frontal deficits including inattention and disinhibition, and relevant atrophy in the vmPFC on brain MRI were observed in the early stage of the disease.Case presentationA 23-year-old Japanese man presented with progressive inattention and disinhibition over 4 years followed by myoclonic epilepsy. The whole-genome sequencing and filtering analysis showed de novo heterozygous H338R mutation in the SERPINI1, confirming the diagnosis of FENIB. Single-case voxel-based morphometry using brain magnetic resonance imaging obtained at the initial visit revealed focal gray matter volume loss in the ventromedial prefrontal cortices, which is presumed to be associated with inattention and disinhibition.ConclusionFrontal deficits including inattention and disinhibition can be the presenting symptoms of patients with FENIB. Single-case voxel-based morphometry may be useful for detecting regional atrophy of the frontal lobe in FENIB. Detecting these abnormalities in the early stage of disease may be key findings for differentiating FENIB from other causes of progressive myoclonic epilepsy.

Severe mental illness and symptoms of acute coronary syndrome in emergency calls

Abstract Background It can be lifesaving to act fast and correct when acute life-threatening diseases occur. This is, however, challenging in some patients with severe mental illness as they sometimes experience symptoms differently than patients without severe mental illness. This changed perception can affect the patients’ chances of receiving adequate help, as these patients are already stigmatized even by healthcare personnel. Purpose We aimed to determine whether patients with severe mental illness reported different symptoms of acute coronary syndrome (ACS) in emergency calls than patients without severe mental illness. Methods In this registry-based study, we analyzed symptoms of ACS in emergency calls made from 2014 to 2018 in the Capital Emergency Medical Services, including the Emergency Number (1-1-2) and the Out-of-hours Service (medical helpline). The study population comprised patients with severe mental illness (defined by schizophrenia, bipolar affective disorder, and depression) and a control group of patients without severe mental illness. Additionally, we investigated whether psychotropics (defined by antipsychotics, mood stabilizers, and antidepressants) were associated with altered symptom presentation of ACS. Furthermore, we determined the time from the emergency call to hospitalization. Analyses were performed by logistic regression adjusted for sex and age and t-tests. Results In total, 11,113 emergency calls were included; 917 were from patients with severe mental illness (45.4% were female, average age was 64.6 years), and 10,196 were from patients without severe mental illness (35.3% were female, average age was 67.7 years). Severe mental illness was associated with less frequent chest pain in ACS (odds ratio 0.80, 95%CI: 0.70-0.92, p=0.002). Furthermore, treatment with psychotropics was associated with less frequent chest pain in ACS (odds ratio 0.73, 95%CI: 0.64-0.82, p<0.001). The mean time difference from the emergency call to hospitalization was 17 minutes longer for patients with severe mental illness (1 hour 21 minutes vs. 1 hour 4 minutes, p=0.002) Conclusion Patients with severe mental illness presented less frequent chest pain in ACS in emergency calls than patients without severe mental illness and had increased time to hospitalization. This calls for increased awareness of symptom presentation in patients with severe mental illness to improve the identification and management of ACS.

Cerebral glucose hypometabolism and hypoperfusion of cingulate gyrus: an imaging biomarker of autoimmune encephalitis with psychiatric symptoms

BackgroundAbout 60% of autoimmune encephalitis (AE) patients present psychiatric symptoms, but the underlying mechanism remains unknown. This study examined the role of the cingulate cortex in such patients to identify predictive poor psychiatric factors.MethodsIn this study, 49 AE patients and 39 healthy controls were enrolled. AE patients were further divided into two groups based on the presence/absence of psychiatric symptoms. The ratio of the standardized uptake value (SUVR) and relative cerebral blood flow (rCBF) in different regions of the cingulate cortex were calculated through positron emission tomography–computed tomography (PET/CT) and arterial spin labeling (ASL) MRI, and the results were compared among the three groups. In addition, we followed-up on the psychiatric outcomes and identified the risk factors for poor psychiatric prognosis, focusing on the cingulate cortex.ResultsMore than half of the AE patients (27/49) exhibited psychiatric symptoms. Agitation and thought blocking were typical psychiatric phenotypes, except for anti-glutamic acid decarboxylase 65 (GAD65) encephalitis, which mainly presented with catatonia and a depressed mood. AE patients with psychiatric symptoms experienced reduced metabolism and perfusion of the anterior cingulate cortex (ACC), midcingulate cortex (MCC), and posterior cingulate cortex (PCC). The SUVR of ACC can be used as an independent risk factor of poor psychiatric outcomes, which had an area under the ROC curve (AUC) of 0.865.ConclusionImpaired cingulate cortex function in AE may be the potential mechanism of psychiatric symptoms. Hypometabolism of ACC is an independent prognostic factor predicting an unfavorable psychiatric prognosis in AE.

Pearls & Oy-sters: Familial Verbal Auditory Agnosia Due to C9orf72 Repeat Expansion.

Chromosome 9 open reading frame 72 (C9orf72) gene pathogenic variants have been typically associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), but recent studies suggest their involvement in other disorders. This report describes a family with an autosomal dominant pattern of inheritance of progressive verbal auditory agnosia due to GGGGCC repeat expansion in C9orf72. A 60-year-old right-handed male truck driver presented with slowly progressive poor speech perception for 8 years, which became most troublesome when receiving verbal orders over the phone. He had difficulty recognizing single-syllable spoken words beyond his hearing loss but had no problem understanding complex written language. He had a heterozygous pathogenic variant carrying 160 hexanucleotide repeats in the C9orf72 gene. His family history included his deceased mother with similar symptoms that had progressed over 30 years, as well as his older brother and youngest sister who experienced speech perception difficulty beginning in their early fifties. His asymptomatic younger brother had a heterozygous 2 repeat in the C9orf72 gene, while his symptomatic youngest sister had a heterozygous 159 repeat. The patient and his sister exhibited more pronounced cortical thinning in the frontotemporoparietal areas. The discrepancy observed between the distribution of atrophy and the presentation of symptoms in patients with C9orf72 pathogenic repeat expansion may be attributable to the slow progression of their clinical course over time. The variable symptom presentation of C9orf72 pathogenic repeat expansion highlights the importance of considering this pathogenic variant as a potential cause of autosomal dominant degenerative brain diseases beyond FTD and ALS.

Transient liver elastography in the follow-up of Fontan patients: results of a nation wide survey in Germany.

Fontan-palliated patients are at risk for the development of Fontan-associated liver disease (FALD). Currently, there is no consensus on how to stage FALD. Transient elastography (TE) is a rapid, non-invasive method to assess FALD and liver fibrosis. To assess the availability and conditions of using TE to monitor liver disease in Fontan patients in german centers for pediatric cardiology and to propose the introduction of a standardized national protocol for the monitoring of liver disease, we developed a questionnaire. In total, 95 valid questionnaires were collected. Only 20% of the centers offer the TE investigation directly. Most of the centers transfer the patients to another department or center (40%) or didńt offer TE (40%). In only 2.6% of the centers TE is performed directly by the cardiologist. Most of the centers transfer the patients to a other department. In 29.2% TE is performed only at a certain age of the patients and in 27.7% it is performed if the patients present symptoms of failing Fontan. In only 13.9% of the centers TE is proposed in all the Fontan patients on a routine basis. Most often TE is performed only from the beginning of the adolescence. In the majority of answers it was not known if the patients are fasting for the examination (68%) or not and if the TE examination had to be performed in a specific breathing phase during TE (Inspiration/Expiration, 90%). In the majority, TE is not offered routinely (46.9%). To date in Germany, TE is only used in a few numbers of centers specialized in Fontan follow-up. A standardized protocol to use TE is currently not existing. With regard to the feasibility of the examination, it is evident that TE is a quick, cheap and easy method to distinguish between cases with and without progressive FALD. This makes TE a useful and prognostic tool for screening of liver disease and to failing Fontan circulation. We propose a systematic TE evaluation of possible liver congestion and fibrosis, as a part of the routine follow-up of Fontan patients.

Pediatric airway compression in aortic arch malformations: a multidisciplinary approach.

Aortic arch malformations (AAMs) should be suspected in the presence of persistent respiratory symptoms despite medical treatment or feeding problems at the pediatric age. We report a descriptive cohort of patients with AAMs and the local management protocol applied. A total of 59 patients with AAM were retrospectively reviewed. Three groups were identified: double aortic arch (DAA), group 1; complete vascular ring (non-DAA), group 2; and anomalous origin of the innominate artery (IA), group 3. Prenatal diagnosis was available for 62.7% of the patients. In all, 49.2% of children were symptomatic. There was a significantly different prevalence of respiratory symptoms within the three groups: 73.7% in group 1, 24.2% in group 2, and 100% in group 3 (p-value: <0.001). Surgery was considered in the presence of symptoms in patients with DAA and in those with reduction of the tracheal section area greater than 50%. A total of 52.5% of the patients underwent surgical repair (median age 6 months). The median follow-up interval was 21.9 months. Respiratory symptoms improved in most symptomatic patients. No specific protocols are available for the management of patients with AAMs. Conservative treatment seems to be reasonable for asymptomatic patients or those with airway stenosis less than 50%. A close follow-up is necessary to identify early patients who become symptomatic.

Management of cervicofacial infection: a 7-year retrospective study

We aimed to describe and analyze the epidemiologic and clinical variables associated with, treatment for, and development of cervicofacial infection (CFI). We retrospectively examined 201 patients older than 14 years who had met the CFI diagnostic criteria and whose treatment required hospitalization and intervention under general anesthesia at our hospital. We performed chi-square tests to compare proportions in categorical variables and either the Student t test or the Wilcoxon signed-rank test to compare quantitative variables. We performed an analysis of variance to compare 3 or more categories and either Pearson or Spearman correlation coefficient analysis to examine the correlations between quantitative variables. The majority (85.07%) of the CFIs were of odontogenic origin. The mean hospitalization length was 4.58 days. Patients with diabetes who used tobacco and/or alcohol had a significantly longer length of hospitalization and several postoperative complications.The most common symptoms were pain, trismus and toothache. Symptoms of fever and nausea were associated with longer hospitalization. The most affected anatomic spaces were submandibular and pterygomandibular. Buccal and infraorbital, temporal, and parotid spaces were associated with longer hospitalization. Most CFIs are of odontogenic origin. Diabetes and tobacco and alcohol use are important risk factors. Treatment should be surgical and target the cause of infection. Timely referrals are important when patients present symptoms compatible with CFI for immediate treatment.

Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience

Peripheral blood cytopenia, a frequent presenting symptom in pediatric patients, can be caused by bone marrow failure (BMF). Timely identification of patients with non-reversible BMF is of crucial importance to reduce the risks of invasive infections and bleeding complications. Most pediatric patients with severe persistent cytopenia, independent of the underlying cause, are offered allogeneic hematopoietic stem cell transplantation (HSCT) as curative therapy. Here we report on our management guidelines and HSCT outcomes of pediatric BMF patients to pinpoint improvements and future challenges. We formulated recommendations based on this 50 years’ experience, which were implemented at our center in 2017. By analysis of the HSCT cohort of 2017–2023, the 5-year outcome data is presented and compared to historical outcome data. In addition, outcomes of patients transplanted for identified inherited bone marrow failure syndromes (IBMFS) are compared to severe aplastic anemia (SAA) outcomes to underline the often multiorgan disease in IBMFS with implications for long-term survival. Survival of pediatric patients with irreversible BMF has improved tremendously. SAA patients transplanted after 2017 had a superior 5-year overall (OS) and event-free survival (EFS) of 97% and 85% compared to 68% and 59% in the cohort transplanted before 2017 (p = 0.0011 and p = 0.017). A similar trend was seen for BMF, with an OS and EFS of 89% for those transplanted after 2017 compared to 62% and 59% (p > 0.05). This improvement is mainly related to better survival in the first months after HSCT. The long-term survival after HSCT is lower in IBMFS patients as compared to SAA patients due to secondary malignancies and multiorgan toxicity. Conclusion: Unbiased protocolized in-depth diagnostic strategies are crucial to increase the frequency of identifiable causes within the heterogeneous group of pediatric BMF. A comprehensive approach to identify the cause of BMF can prevent treatment delay and be useful to tailor treatment and follow-up protocols.What is Known:• Irreversible BMF in pediatric patients can be caused by a wide spectrum of underlying diseases including (pre)malignant disease, IBMFS and AA. Identifying the exact underlying cause of BMF is crucial for tailored therapy, however often challenging and time-consuming.• Frontline allogeneic HSCT is offered to most pediatric patients with severe BMF as curative treatment.What is New:• Protocolized unbiased diagnostics, short time to treatment (< 3 months) and maximal supportive care until curative treatment can prevent complications with a negative effect on survival such as infection and bleeding.• Personalized follow-up protocols for IBMFS patients are essential to prevent a second decline in survival due to long-term treatment toxicity and extra-hematological disease complications.

Cancer recurrence: Detection and diagnostic intervals in Danish primary care.

e13110 Background: Danish cancer survivors receive hospital-based, specialized follow-up care with one central aim to detect cancer recurrence (CR) at an early stage. Nevertheless, CR is frequently detected outside of scheduled follow-up visits as 40-60% of CR patients encounter and present symptoms. The family physician (FP) is presumed to facilitate most of these diagnostic pathways. However, little is known about CR detection in primary care. We aim to examine diagnostic intervals, actions taken by the FP and sub-optimal events for patients presenting symptoms of CR in primary care. Methods: We are conducting a retrospective, national cohort study based on questionnaire data linked to register data at the individual level. Patients diagnosed with CR of melanoma, lung, breast, colorectal, bladder, ovarian and endometrial cancer between Jan 2022 and May 2024 are included. Patients are identified consecutively using validated, register-based algorithms. All Danish citizens have access to free healthcare and 99% are listed with a specific FP. The affiliated FP is invited to complete a questionnaire on the diagnostic pathway utilizing the patient medical record. Danish health registers provide information on the primary cancer, CR diagnosis date, comorbidity, education, sex, and age. Results: We aim to include 3,000 CR patients and expect to receive information on 1,000 CR diagnostic pathways initiated in primary care. We will present preliminary results from the first 500 responders. The proportion of diagnostic pathways initiated in primary care was 33%, hospital-based follow-up was 44%, and another route was 23%. The FPs initiated the diagnostic pathway by referral to cancer specific urgent pathway for 31% of patients, by referral to specialized private or hospital-based physician including diagnostic imaging for 30% of patients. For 31% of diagnostic pathways, the FPs reported sub-optimal or delaying events. The most frequently reported sub-optimal event was regarding clinical decisions by the FP (12%). For patients with CR of breast cancer (n=53), the mean diagnostic interval (time from first contact to CR diagnosis) was 86 days [95% CI = 61 to 112days]. Conclusions: One third of diagnostic pathways for CR was initiated in primary care. This project will provide novel, comprehensive evidence on these diagnostic pathways to inform the efforts for early detection of CR and survivorship in primary care.

Retina-to-brain spreading of α-synuclein after intravitreal injection of preformed fibrils

Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the aggregation of misfolded α-synuclein and progressive spreading of the aggregates from a few discrete regions to wider brain regions. Although PD has been classically considered a movement disorder, a large body of clinical evidence has revealed the progressive occurrence of non-motor symptoms. Patients present visual symptoms in the initial stages of the disease, and accumulation of phospho-α-synuclein, dopaminergic neuronal loss, and retinal thinning has been observed in the retinas of PD patients. Based on such human data, we hypothesized that α-synuclein aggregation can initiate in the retina and spread to the brain through the visual pathway. Here, we demonstrate accumulation of α-synuclein in the retinas and brains of naive mice after intravitreal injection of α-synuclein preformed fibrils (PFFs). Histological analyses showed deposition of phospho-α-synuclein inclusions within the retina 2 months after injection, with increased oxidative stress leading to loss of retinal ganglion cells and dopaminergic dysfunction. In addition, we found accumulation of phospho-α-synuclein in cortical areas with accompanying neuroinflammation after 5 months. Collectively, our findings suggest that retinal synucleinopathy lesions initiated by intravitreal injection of α-synuclein PFFs spread to various brain regions through the visual pathway in mice.