Delayed diagnosis in inflammatory bowel disease: Time to consider solutions.

In this editorial, we discuss a recently published manuscript by Blüthner et al in the World Journal of Gastroenterology, with a specific focus on the delayed diagnosis of inflammatory bowel disease (IBD). IBD, which includes Crohn's disease and ulcerative colitis, is a chronic intestinal disorder. A time lag may exist between the onset of inflammation and the appearance of signs and symptoms, potentially leading to an incorrect or delayed diagnosis, a situation referred to as the delayed diagnosis of IBD. Early diagnosis is crucial for effective patient treatment and prognosis, yet delayed diagnosis remains common. The reasons for delayed diagnosis of IBD are numerous and not yet fully understood. One key factor is the nonspecific nature of IBD symptoms, which can easily be mistaken for other conditions. Additionally, the lack of specific diagnostic methods for IBD contributes to these delays. Delayed diagnosis of IBD can result in numerous adverse consequences, including increased intestinal damage, fibrosis, a higher risk of colorectal cancer, and a decrease in the quality of life of the patient. Therefore, it is essential to diagnose IBD promptly by raising physician awareness, enhancing patient education, and developing new diagnostic methods.

Missed and Delayed Diagnoses of Chronic Liver Disease in Primary Care Patients with Cirrhosis.

BACKGROUND: Chronic liver diseases (CLD), cirrhosis, and hepatocellular carcinoma (HCC) cause significant morbidity and mortality. Unfortunately, patients with CLD often go undiagnosed until progression to cirrhosis and HCC. We aimed to determine the proportion of primary care patients with severe liver disease outcomes that had missed or delayed CLD diagnoses. METHODS: This retrospective cohort study evaluated primary care patients with a diagnosis of cirrhosis, HCC, or other severe liver disease outcome between 2012 and 2021. The outcomes of interest were missed and delayed diagnoses of CLD, defined as the absence of a CLD diagnosis (missed) or first appearance of CLD on the same day as the cirrhosis diagnosis (delayed). Univariate analyses were performed to describe the cohort. Multivariable logistic regression models analyzed the association of aminotransferase elevations with the outcomes of interest. RESULTS: Of 667 patients with cirrhosis or HCC, 133 (20%) had a missed CLD diagnosis, and 243 (36%) had a delayed CLD diagnosis. Alcohol-related liver disease was the most common etiology among patients with missed/delayed diagnoses. A lower proportion of patients with missed/delayed diagnoses had an elevation in ALT or AST compared to patients with timely diagnoses (61% vs. 77%, p < 0.001). Elevated aminotransferase values were associated with lower odds of a missed/delayed diagnosis (OR 0.47; 95%CI 0.34-0.66). CONCLUSIONS: Most patients with cirrhosis or HCC had missed or delayed diagnoses of CLD in the context of probable overreliance on aminotransferase elevation for CLD detection. Enhanced screening for high prevalence CLD, especially alcohol, in primary care is needed.

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.

BACKGROUND: Marfan syndrome (MFS) guidelines recommend optimal pharmacological therapy (OPT) and replacement of the ascending aorta (RAA) at 5.0cm diameters to prevent acute type A aortic dissection (ATAAD) and death. The effect of early MFS diagnosis and initiation of therapy on outcomes is not known. OBJECTIVE: To evaluate the effect of age at MFS diagnosis and therapy initiation on delayed RAA and death. METHODS: This retrospective observational cohort study with long-term follow-up included consecutive patients with MFS, pathogenic FBN1 variant, and regular visits to a European Reference Network Center. We considered MFS diagnosis at age ≥21 years late, and OPT initiation at age <21 years early. Outcomes were delayed RAA with aneurysm diameter >5.0cm or ATAAD, and death from all causes. We used landmark design starting at age 21 years to determine associations with outcomes. RESULTS: The study group consisted of 288 patients (45.1% male), including 169 patients with late MFS diagnosis (58.7%) and 63 with early OPT (21.9%). During mean follow-up of 25±14.7 years, 78 patients had delayed RAA, with 42 operations for ATAAD and 36 for aneurysms ≥5.0cm. There were 33 deaths, including 11 deaths late after ATAAD. All deaths were cardiovascular. Late diagnosis, but not early OPT, showed univariate association with delayed RAA (P<0.001) and death (P=0.025). Multivariate Cox regression analysis confirmed late diagnosis as predictor of delayed RAA (hazard ratio (HR)=8.01; 95% confidence interval (95%CI) 2.52-25.45; P<0.001) and death (HR=4.68; 95%CI 1.17-18.80; P=0.029). CONCLUSIONS: Late diagnosis of Marfan syndrome is associated with delayed surgery and death.

Unravelling a hidden pathology of a vertebral fracture in a teenage girl.

BACKGROUND: Although the skeleton remains a common target of primary hyperparathyroidism, the classic bone disease "osteitis fibrosa cystica" is currently rare due to early diagnosis. This case represents severe classic bone manifestations of primary hyperparathyroidism due to delayed diagnosis and delayed medical attention. CASE PRESENTATION: A 19-year-old young female was symptomatically managed for chronic back pain and nonspecific bone pain in the small joints of both hands over 2 months by a general practitioner. The patient had delayed seeking for treatment for 3 months. Later, she was evaluated for tuberculosis, hematological malignancies and rheumatic disorders following a fractured T12 vertebra and underwent pedicle screw fixation. However, clinical examination and investigations, including biochemistry, imaging and histology, ruled out the above conditions. Unfortunately, serum calcium level was not performed at the initial presentation. Later, primary hyperparathyroidism was diagnosed on the basis of moderate hypercalcaemia and elevated intact PTH levels (2064 pg/ml). She had sufficient vitamin D levels and normal kidney function. Her DXA scan revealed severe secondary osteoporosis with the lowest Z score of -8 at the total lumbar spine. Ultrasonography of the thyroid revealed a hypo echoic mass in the left lower neck, and localization studies with technetium-99 m sestamibi and 4D-CT revealed a left inferior parathyroid adenoma (1.6 × 1.5 × 1.6 cm). CT scan also revealed brown tumors in the mandible and vertebrae and diffuse bony changes in the skull, sternum, humerus and vertebrae. Her radiographs revealed subperiosteal bone resorption on the radial aspects of the middle and distal phalanges and brown tumors in both the ulna and fibula. We excluded MEN and other hereditary syndromes in our patient with a personal and family history and with a normal pituitary hormone profile because of poor resources for genetic testing. She underwent parathyroid adenoma excision, and the postoperative period was complicated with hungry bone syndrome, requiring high doses of calcium and active vitamin D supplements. These supplements were gradually weaned off over 6 months, and she recovered with normal biochemical investigations. Histology revealed parathyroid adenoma without malignant features. CONCLUSION: In developing countries where routine calcium screening is not available, clinicians should be aware of various manifestations of primary hyperparathyroidism to allow diagnosis as soon as possible without delay to prevent further progression, as it is a treatable condition.

Gossypiboma: A case of retained intra-luminal surgical sponge leading to delayed diagnosis and treatment in a Nigerian patient.

Gossypiboma, a term used to describe a retained foreign body mass of cotton (sponge, abdominal mop or gauze) within the body after a surgical procedure, is an uncommon but serious surgical complication. It can manifest with various clinical presentations and often leads to delayed diagnosis and significant morbidity. This report highlights the need for a repeat exploration at the end of open abdominal surgeries as routine. The case presented is that of a young female who underwent open myomectomy in an outreach setting, and subsequently developed symptoms of an acute abdomen due to a retained abdominal mop seen at surgery. The abdominal mop seen at laparotomy had migrated transmurally and became trapped within the ileum and ileocecal junction. After removal of the intra-luminal abdominal mop and abdominal closure, she had post-operative malnutrition and anaemia that were corrected as she regained full recovery. The incidence of gossypiboma is believed to be underestimated in developing countries, and surgical sponges are the most frequently retained foreign bodies. Accurate estimates of the incidence are challenging due to socio-cultural impediments and fear of litigation. Prompt recognition and prevention of gossypiboma are crucial to avoid associated complications and improve patient outcomes.

Musculoskeletal Symptoms and Misdiagnoses in Children With Acute Myeloid Leukaemia: A Nationwide Cohort Study.

OBJECTIVES: Childhood cancer often presents with non-specific signs and symptoms that might mimic non-malignant disorders including musculoskeletal diseases, potentially leading to rheumatic and orthopaedic misdiagnoses. We aimed to compare clinical presentation, diagnostic interval and survival in paediatric acute myeloid leukaemia (AML) with and without initial musculoskeletal symptoms. METHODS: This nationwide retrospective, cohort study reviewed medical records of 144 children below 15 years diagnosed with AML in Denmark from 1996 to 2018. RESULTS: Musculoskeletal symptoms occurred in 29% (42/144) of children with AML and 8% (11/144) received an initial musculoskeletal misdiagnosis, being mainly non-specific and pain-related. The children with and without musculoskeletal symptoms did not differ markedly up to the diagnosis of AML and blood counts were affected equally in both groups. However, the children with prior musculoskeletal symptoms were more likely to have elevated levels of LDH and ferritin. Furthermore, they revealed a tendency towards a longer total interval (median 53 days vs. 32 days, p = 0.07), but the overall survival did not differ. CONCLUSION: AML should be considered as an underlying cause in children with unexplained musculoskeletal symptoms and abnormal blood counts. Concomitant elevation of LDH and ferritin should strengthen the suspicion.

Clinical characteristics of 217 Chinese cases with depersonalization/derealization disorder.

Depersonalization/derealization disorder (DPD) is a prevalent yet inadequately understood clinical condition characterized by a recurrent or persistent sense of unreality. This study aims to provide insight into DPD through descriptive and comparative analyses involving a large group of Chinese participants. The socio-demographic details (age, gender proportion, education, occupational status, marital status), depersonalized and dissociative symptom characteristics (symptomatic factors or subscales of the Cambridge Depersonalization Scale and the Dissociative Experiences Scale), development trajectory (age of onset, potential precipitating factors, course characteristics), treatment history (duration of delayed healthcare attendance, duration of delayed diagnosis, previous diagnoses), and adverse childhood experiences of the DPD patients are presented. Comparisons of anxiety and depressive symptoms, alongside psychosocial functioning, between DPD participants and those diagnosed with generalized anxiety disorder, bipolar disorders, and major depressive disorder were conducted. The analysis highlights a higher male preponderance and early onset of DPD, symptomatology marked by derealization, notable impairment in psychosocial functioning, and prolonged periods of delayed healthcare attendance and diagnosis associated with symptom severity. Furthermore, noteworthy relationships between adverse childhood experiences and symptom levels were identified. The findings substantiate the view that DPD is a serious but neglected mental disorder, urging initiatives to improve the current condition of DPD patients.

Identifying Factors Contributing to Delayed Diagnosis of Ovarian Cancer: A Comprehensive Analysis.

Background: Ovarian cancer (OC) remains the deadliest gynecologic malignancy worldwide due to delayed diagnosis, recurrence, and drug resistance. This study aimed to identify key factors affecting delayed diagnosis in OC patients. Methods: A retrospective analysis was conducted on OC patients treated at Taihe Hospital, Hubei University of Medicine from June 2023 to September 2023. Patients were categorized based on a three-months cut-off point for delayed diagnosis. Collected data included demographics, tumor incidence, and disease cognition. The analysis of variance and the chi-squared test was used for comparison between groups. Results: The significant differences were found in age, residence, education level, family income, family history of tumor, histology, FIGO stage, and tumor location between groups (P<0.05). Multifactorial logistic regression analysis identified education level [odds ratio (OR) = 0.606; 95% confidence interval (CI): 0.440, 0.833; P = 0.002], family history of tumor (OR = 0.462; 95% CI: 0.214, 0.997; P = 0.049), emotional barriers (OR = 1.332; 95% CI: 1.081, 1.642; P = 0.007), and practical barriers (OR = 2.964; 95% CI: 2.195, 4.004; P < 0.001) as risk factors for delayed diagnosis of OC. Conclusion: Patient cognition is crucial in OC diagnosis delay. Enhancing public awareness and understanding of OC is essential to eliminate fear and improve early diagnosis.

Advanced pulmonary tuberculosis in Alameda County: Ten-year incidence and risk factors.

Background: Advanced pulmonary tuberculosis (APT) may reflect delays in tuberculosis (TB) diagnosis and contribute to ongoing disease transmission and poor outcomes. We characterized trends and factors associated with APT over ten years in a high TB-burden county within the United States. Methods: We evaluated microbiologically and clinically confirmed TB cases reported to the Alameda County Public Health Department during 2010-2019. APT was defined as the presence of cavitation on chest imaging and positive acid-fast bacilli sputum smear. Over the ten-year period, we determined overall incidence and annual trends, and conducted multivariable logistic regression to identify sociodemographic and clinical factors associated with APT. Results: We included 997 cases with pulmonary TB, of which 128 (12.8 %) had APT. The 10-year incidence of APT was 8.8 cases per 100,000, with no significant change in proportion over time. The median age of cases with APT were 50 years (IQR 32-61), 68 % were male, and 78.9 % were non-US-born. On multivariable assessment, APT cases were more likely than non-APT cases to use drugs in the past year (aOR 2.43, 95 % CI 1.10-35.09), to have diabetes (aOR 2.51, 95 % CI: 1.59-3.96), and be HIV negative (aOR 9.32 versus HIV positive, 95 % CI 1.87-169.77). While US nativity was not significantly associated with APT, it was an effect modifier. In stratified analysis, APT was more likely among those with drug-use in the last year among US-born, while diabetes was associated with APT among non-US-born individuals. Conclusions: APT remains a substantial proportion of TB cases. Efforts to increase awareness and access to care are needed for key risk groups including those with recent drug use or diabetes, with consideration of cultural and linguistic factors given differences by US nativity.

Delayed Diagnosis and Treatment of Rare Fungal Peritoneal Dialysis-Associated Peritonitis.

Fungal peritonitis is a somewhat rare yet serious complication associated with peritoneal dialysis (PD). It requires prompt diagnosis and treatment to prevent unnecessary morbidity and mortality. We present an unusual presentation that highlights the consequences of delayed diagnosis and management and propose methods for improving care for patients receiving peritoneal dialysis.

Characteristics of a Pure Acute Subdural Hematoma Caused by Intracranial Aneurysm Rupture: A Case Report and Review of Literature.

Pure acute subdural hematomas (ASDHs) due to ruptured aneurysms without subarachnoid or intracerebral hemorrhage are rare. We report the case of a 26-year-old female who presented with a pure ASDH caused by a ruptured distal anterior cerebral artery (ACA). The patient complained of sudden headache and vomiting and was transferred to our hospital. On the ambulance journey to the hospital, her consciousness level decreased suddenly just after experiencing additional pain in the head. At admission, the consciousness level was 4 points on the Glasgow coma scale with bilateral pupil dilatation. Computed tomography (CT) and CT angiography showed a left ASDH without subarachnoid hemorrhage (SAH) and a distal ACA aneurysm. Emergent hematoma evacuation was performed, but SAH and the bleeding point were not observed. Therefore, coil embolization for the distal ACA aneurysm was performed after an emergent operation. During embolization, intraoperative rupture was observed. The contrast media was seen up to the convexity subdural space along the falx. Extravasation ceased after intraaneurysmal coil embolization. Consequently, the rupture of the distal ACA aneurysm was diagnosed as the cause of the pure ASDH. The patient received additional coil embolization due to recanalization of the aneurysm without rebleeding 44 days after admission and was transferred to a rehabilitation hospital 55 days after admission to our hospital with a score of 4 on the modified ranking scale. From the reviews of 56 patients from 32 studies, including our case, we determine that an ACA aneurysm could show the distant hematomas located far from the site of a ruptured aneurysm compared with a ruptured aneurysm located in the internal carotid and middle cerebral arteries. Distant hematoma location could also lead to delayed diagnosis of aneurysms and lead to rebleeding and poor outcomes. Aneurysm rupture diagnoses should receive special attention, especially for ACA aneurysms, as the hematoma may be located far from the rupture site.

Delayed diagnosis and missed opportunities in the early detection of atrial fibrillation: a cross-sectional study.

INTRODUCTION: We analysed the frequency of atrial fibrillation (AF) delayed diagnosis and the factors associated with it in newly diagnosed patients. METHODS: This was a descriptive, cross-sectional, multicentre study. Data were collected from newly diagnosed patients with AF through medical records review and interviews during cardiology, internal medicine, primary care and emergency department consultations in Spain. RESULTS: A total of 201 physicians participated in the study (64.2% cardiologists, 21.4% internists). 948 patients (58% men; mean age 72.8 years) were included. In 41.8% of patients, AF was classified as paroxysmal at diagnosis, 30.9% as persistent and 27.3% as permanent. The diagnosis was coincidental in 37%. It was considered that a delayed diagnosis occurred in 49.3% of patients. This delay was associated with the presence of permanent or persistent AF, older age or valvular disease. 74.8% of patients had some contact with the healthcare system in the preceding year. The diagnosis could have been established between 1 and 6 months earlier in 50.7% of cases and more than six months earlier in 20.1%. 54.4% of the patients had experienced AF compatible symptomatology previously. Of these, 32.6% had a consultation without a diagnosis. CONCLUSIONS: In a significant proportion of AF cases, there is a diagnostic delay. Many people with compatible symptoms neither seek consultations nor contact the healthcare system facilities. Consequently, the opportunity for early diagnosis is lost.

Suppressed HIV antibody responses following exposure to antiretrovirals-evidence from PrEP randomized trials and early antiretroviral treatment initiation studies.

BACKGROUND: Exposure to antiretrovirals at or early after HIV acquisition can suppress viral replication and blunt antibody (Ab) responses; a reduced HIV detectability could impact diagnosis and blood donation screening. METHODS: We used three antigen (Ag)/Ab assays and one nucleic acid test (NAT) to analyze samples collected in pre-exposure prophylaxis (PrEP) trials (iPrEx; Partners PrEP) before infection detection by Ab-only rapid diagnostic tests (RDTs), and in early antiretroviral treatment (ART) initiation studies (RV254; SIPP). RESULTS: Reactivity using NAT and Ag/Ab assays in samples collected up to 8 weeks prior to the first reactive RDT from 251 PrEP trials participants varied between 49-61% for active PrEP users and between 27-37% for placebo users. Among RV254 participants, reactivity in Ag/Ab assays was <100% at all timepoints, and lower among those initiating ART earlier. Seroreversions occurred for 29% (16/55), and blood donation screening with NAT and Ag/Ab assays could have missed up to 36% (20/55) of RV254 participants. For SIPP participants, who started ART at later timepoints, Ag/Ab assays identified infections with no evidence of reactivity waning. CONCLUSION: PrEP and early ART initiation can delay or reduce HIV detectability. Considerations for the implementation of NAT and Ag/Ab tests in PrEP/PEP programs relying on Ab-only RDTs should be balanced according to feasibility and public health impact. While blood transfusion services using Ab-only RDTs for HIV screening should adopt higher sensitivity tests, surveillance and further research are needed to determine the need for novel HIV testing algorithms for those already using NAT and Ag/Ab screening assays.

Barriers and facilitators to tuberculosis diagnosis in Lima, Peru: a mixed methods study.

BACKGROUND: Tuberculosis (TB) infectiousness decreases significantly with only a few days of treatment, but delayed diagnosis often leads to late treatment initiation. We conducted a sequential explanatory mixed methods study to understand the barriers and facilitators to prompt diagnosis among people with TB. METHODS: We enrolled 100 adults who started TB treatment in the Carabayllo district of Lima, Peru, between November 2020 and February 2022 and administered a survey about their symptoms and healthcare encounters. We calculated total diagnostic delay as time from symptom onset to diagnosis. We conducted semi-structured interviews of 26 participants who had a range of delays investigating their experience navigating the health system. Interview transcripts were inductively coded for concepts related to diagnostic barriers and facilitators. RESULTS: Overall, 38% of participants sought care first from public facilities and 42% from the private sector. Only 14% reported being diagnosed with TB on their first visit, and participants visited a median of 3 (interquartile range [IQR] health facilities before diagnosis. The median total diagnostic delay was 9 weeks (interquartile range [IQR] 4-22), with a median of 4 weeks (IQR 0-9) before contact with the health system and of 3 weeks (IQR 0-9) after. Barriers to prompt diagnosis included participants attributing their symptoms to an alternative cause or having misconceptions about TB, and leading them to postpone seeking care. Once connected to care, variations in clinical management, health facility resource limitations, and lack of formal referral processes contributed to the need for multiple healthcare visits before obtaining a diagnosis. Facilitators to prompt diagnosis included knowing someone with TB, supportive friends and family, referral documents, and seeing a pulmonologist. CONCLUSIONS: Misinformation about TB among people with TB and providers, poor accessibility of health services, and the need for multiple encounters to obtain diagnostic tests were major factors leading to delays. Extending the hours of operation of public health facilities, improving community awareness and provider training, and creating a formal referral process between the public and private sectors should be priorities in the efforts to combat TB.

A Case Report of Navigating Dual Respiratory Challenges: From Pulmonary Tuberculosis (PTB) to Allergic Bronchopulmonary Aspergillosis (ABPA).

This case study describes a unique scenario in which allergic bronchopulmonary aspergillosis (ABPA) was identified following treatment for pulmonary tuberculosis (PTB). ABPA is a complex pulmonary disorder that is often overlooked due to its nonspecific clinical presentation, especially in individuals concurrently diagnosed with tuberculosis (TB). Despite initial TB diagnosis and treatment, a 28-year-old male continued to experience respiratory symptoms, prompting further investigation that revealed underlying ABPA. This case underscores the importance of emphasizing the critical role of maintaining a high level of suspicion for ABPA in TB patients with persistent symptoms, highlighting the need for timely recognition and management to minimize further lung damage and improve patient outcomes.

Hanseníase na atenção básica: saberes e práticas dos profissionais da Estratégia Saúde da Família / Leprosy in primary care: knowledge and practices of professionals in the Family Health Strategy

O objetivo deste estudo é descrever a capacitação de profissionais de saúde na avaliação dermatoneurológica e do grau de incapacidade física em hanseníase, realizada em um posto de Saúde. Trata-se de uma Pesquisa-ação desenvolvida de maio a agosto de 2019 com médicos, enfermeiros e fisioterapeuta da atenção básica. Foi utilizado para coleta de dados questionário autoaplicado, através da plataforma Google Forms, gravação audiovisual e registro em diário de campo durante as oficinas teóricas e práticas. O processo interpretativo deu-se através da análise de conteúdo. Inicialmente, foi realizado o diagnóstico situacional, no qual os profissionais relataram insegurança e deficiência tanto no conhecimento como na habilidade para o atendimento ao paciente com hanseníase. Além disso, não participaram de capacitações acerca do tema. Foram realizadas oficinas para desenvolver competências necessárias. A avaliação das oficinas mostrou uma melhoria do conhecimento e das práticas de cuidado aos usuários durante o estudo. É importante o incentivo às capacitações periódicas dos profissionais de saúde da atenção básica. Além disso, incluir na prática o monitoramento sistemático dos casos novos, busca ativa de casos suspeitos e dos contatos da pessoa com hanseníase. Para que se interrompa a cadeia de transmissão, faz-se necessária a adoção dessas práticas a fim de controlar os casos de hanseníase.

The aim of this study is to describe the training of health professionals in the dermatoneurological assessment and the degree of physical disability in leprosy performed at a health center. This is an action research developed from may to august 2019 with doctors, nurses and physical therapists in primary care. A self-administered questionnaire was used for data collection, through the google forms platform, audiovisual recording and field diary recording during the theoretical and practical workshops. The interpretive process took place through content analysis. Initially, the situational diagnosis was carried out, where professionals reported insecurity and deficiency in both knowledge and ability to care for patients with leprosy. In addition, they did not participate in training on the subject. Workshops were held to develop necessary skills. The evaluation of the workshops showed an improvement in knowledge and care practices for users during the study. It is important to encourage periodic training of primary care health professionals. Include in practice the systematic monitoring of new cases, active search for suspected cases and contacts of the person with leprosy. In order to interrupt the chain of transmission, it is necessary to adopt these practices in order to control leprosy cases.

A Difficult Differential Diagnosis in New Neck Masses: Retropharyngeal Abscess or Malignancy?

Retropharyngeal abscesses (RPAs) are rare in the adult population and rarer without an inciting event or comorbidity such as recent oral surgery, neck infection, or pharyngeal trauma. The definitive treatment is incision and drainage of the abscess. Clinical researchers have recently questioned whether invasive surgical intervention is necessary and posed the question of what role antibiotics play in management. Sequelae of RPAs are severe and include rupture of the abscess, erosion of the carotid artery, thrombophlebitis, and most seriously, airway compromise. We present a case where an atypical presentation of an RPA caused a disagreement among specialists, and the debate of whether the described case represented an abscess or malignancy caused a delay in diagnosis and treatment for the patient. Only after invasive and emergent surgical intervention was a final diagnosis able to be made. This case demonstrates the need for more research and official guidance on the management of new neck masses to hasten diagnosis and prevent devastating outcomes.

Surgical Removal of a Long-Forgotten, Retained Intravascular Foreign Body: A Case Report and Literature Review.

Intravascular foreign body embolization is a potential complication of any vascular operation. Placement of a central venous catheter (CVC) is a common procedure, especially during surgery, hemodialysis, or in critically ill patients. The complete loss of the introducing guidewire into the circulation is a rare complication, with the majority of cases identified immediately or shortly after the procedure. We report an unusual case of an 82-year-old male with a misplaced CVC guidewire, extending from the right common femoral vein (CFV) to the superior vena cava, that was found incidentally 2 years after internal jugular vein cannulation during colorectal surgery. The patient was asymptomatic at the time, without any signs of deep vein thrombosis or post-thrombotic syndrome. Surgical extraction of the guidewire was successfully performed, under local anesthesia, through venotomy of the right CFV. Proper education and advanced awareness are advised in order to minimize the risk of this avoidable complication.

Effect of delayed diagnosis on neuroendocrine function in individuals with suprasellar germ cell tumors.

Purpose: The impact of delayed diagnosis on tumor-related prognosis appears to be minimal in individuals with intracranial germ cell tumors (iGCTs). However, its effect on neuroendocrine functions remains unclear. We aimed to assess the effects of delayed diagnosis on neuroendocrine function in individuals with suprasellar GCTs. Methods: We conducted a retrospective cohort study of 459 individuals with suprasellar GCTs and categorized them into two groups based on disease duration: delayed diagnosis (> 6 months) and non-delayed diagnosis (≤ 6 months). We compared endocrinological symptoms, neuroendocrine dysfunction and its grading (categorized into 0-3 grades based on severity), and recovery from neuroendocrine dysfunction in both groups. Results: Patients with delayed diagnosis exhibited higher incidences of amenorrhea, slow growth, fatigue, and polyuria/polydipsia. Neuroendocrine dysfunction, including central adrenal insufficiency (CAI), central hypothyroidism (CHT), arginine vasopressin deficiency (AVP-D), growth hormone deficiency, hypogonadism, and hyperprolactinemia, was more pronounced in the delayed diagnosis group at diagnosis, the end of treatment, and the last follow-up. Furthermore, individuals with delayed diagnosis showed higher grades of neuroendocrine dysfunction at diagnosis (OR=3.005, 95% CI 1.929-4.845, p<0.001), end of oncologic treatment (OR=4.802, 95% CI 2.878-8.004, p<0.001), and last follow-up(OR=2.335, 95% CI 1.307-4.170, p=0.005) after adjusting for confounders. Finally, less recovery, particularly in CAI, CHT, and AVP-D, was seen among the group with delayed diagnosis after treatment. Conclusion: Among individuals with suprasellar GCTs, delayed diagnosis is associated with increased, more severe, and less recovered neuroendocrine dysfunction, emphasizing the importance of early diagnosis and treatment to reduce neuroendocrine dysfunction.

Late diagnosis of anorectal malformation: how good is good enough?

PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.