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.

A latent bleeding complication in ipsilateral common femoral puncture involving delayed diagnosis: a case report.

BACKGROUND: The trans femoral ipsilateral approach is often adopted for endovascular treatment (EVT) for better steerability of guidewires or better device deliverability. However, contrary to the trans femoral contralateral approach, ipsilateral antegrade puncture sometimes causes peculiar bleeding complications. CASE PRESENTATION: A 76-year-old female underwent EVT for chronic occlusion of the left superficial femoral artery (SFA) via the ipsilateral antegrade approach. After guidewire passage, we inflated the drug-coated balloons, but angiography showed blood flow stasis at the mid segment of the SFA. We also ensured prolonged balloon inflation, which resulted in favorable blood flow. While trying to ensure hemostasis, the blood pressure remained decreased, but neither bleeding nor superficial hematoma were observed at the puncture site. After hemostasis was achieved, we removed the surgical drape and noticed a swelling in the mid-portion of the thigh, distant from the puncture point. We then approached the left common femoral artery (CFA) contralaterally. Angiography showed continuous bleeding from a little bit distally to the sheath insertion point that was spreading through an intramuscular space. We stopped the bleeding with balloon tamponade inside the CFA. Angiography after hemostasis demonstrated blood flow stasis at the mid-segment of the SFA, similarly as that seen before. We confirmed compression of the SFA by a large hematoma using both intra- and extra- vascular ultrasound. Therefore, we deployed a self-expandable stent at the compressed SFA position. Finally, we achieved favorable blood flow on angiography. CONCLUSION: We encountered a case that latent bleeding unrecognized in the surgical field persisted while prolonged inflation of DCB was conducted at just proximal SFA. We could have avoided bailout stenting by noticing the bleeding incident in a timely manner. Prediction and prevention are essential for all kinds of procedural complications in EVT.

Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes.

BACKGROUND: Limited data exist on long-term outcomes in individuals with postural orthostatic tachycardia syndrome (POTS). We designed an electronic questionnaire assessing various aspects of outcomes among patients diagnosed and treated in a single-center pediatric POTS clinical program. METHODS AND RESULTS: The LT-POTS (Long Term POTS Outcomes Survey) included questions about quality of life, symptoms, therapies, education, employment, and social impact of disease. Patients age≤18 years at POTS diagnosis who were managed in the Children's Hospital of Philadelphia POTS Program were included. A total of 227 patients with POTS responded with sufficient data for interpretation. The mean age of respondents was 21.8±3.5 years. The median age of symptom onset was 13 (interquartile range 11-14) years, with mean 9.6±3.4 years symptom duration. Multiple cardiovascular, neurologic, and gastrointestinal symptoms were reported. Symptom prevalence and severity were worse for female patients, with 99% of patients reporting ongoing symptoms. Quality of life showed moderate function and limitation, with more severe limitations in energy/fatigue and general health. Nearly three quarters of patients had diagnostic delays, and over half were told that their symptoms were "in their head." Multiple medications were used and were felt to be effective, whereas fewer nonpharmacologic interventions demonstrated efficacy. Nearly 90% of patients required continued nonpharmacologic therapy to control symptoms. CONCLUSIONS: POTS is a chronic disorder leading to significant disability with a range of multisystem problems. Although symptoms can be modifiable, it rarely spontaneously resolves. Improved understanding of POTS presentation and therapeutic approaches may inform provider education, improve diagnostic success, and help patients self-advocate for appropriate medical management approaches.

Delay in fibromyalgia diagnosis and its impact on the severity and outcome: a large cohort study.

OBJECTIVES: To evaluate the impact of the diagnostic delay on fibromyalgia (FM) severity. METHODS: Data were retrospectively extracted from a large database of patients with FM belonging to the Italian Fibromyalgia Registry (IFR) residents on the Marche Region. The diagnosis of FM was formulated according to the 2016 American College of Rheumatology (ACR) criteria. The following information was obtained: time to diagnosis [categorised in early diagnosis (ED) if FM diagnosed within one year, late diagnosis (LD) if FM diagnosed more than 1 year but less than 5 years, and very late diagnosis (VLD) if FM diagnosed over 5 years from symptoms onset], revised Fibromyalgia Impact Questionnaire (FIQR), modified Fibromyalgia Assessment Status (FASmod), and Polysymptomatic Distress Scale (PDS) [consisting of the sum of Widespread Pain Index (WPI) and Symptom Severity Scale (SSS)]. RESULTS: The study included 616 FM patients (92.2% female), with a mean disease duration of 6.46 (SD 4.14) years and a mean (SD) time to diagnosis of 3.45 (2.39) years. The ED group included 169 patients, the LD 320 patients, and the VLD 127 patients. Comparing the differences among groups, a significant difference in disease severity was observed in all the clinimetric indices in increasing the time to reach the diagnosis (p=0.000001): the median PDS scores were 13.36 (interquartile range [IQR] 7.00-20.00), 16.09 (IQR 9.00-22.00), and 23.00 (IQR 18.25-26.00) for ED, LD, and VLD, respectively. CONCLUSIONS: Delayed diagnosis is associated with poorer patient outcomes, including worsening severity.

Factors Associated with High Prevalence of Multibacillary Leprosy in West Bengal: A Case-Control Study.

BACKGROUND: High proportion of multibacillary (MB) among newly diagnosed leprosy cases poses a public health challenge. OBJECTIVES: This study aimed to find out the factors associated with the high burden of MB leprosy in West Bengal. MATERIALS AND METHODS: This case-control study was conducted from August 2020 to December 2022 in three high-endemic districts (annual new case detection rate ≥10/lakh) of West Bengal. OBJECTIVES: MB cases registered under the National Leprosy Eradication Programme were considered as case and paucibacillary (PB) cases were considered as control. Weighted sample sizes for cases and controls in each of the three districts were selected using simple random sampling from the list of registered leprosy patients. Requisite data were collected through structured interview with a validated questionnaire in Bengali. R, version 4.1.1 (R Foundation for Statistical Computing, 2021, Vienna, Austria) was used for data analysis. A binary logistic regression model was prepared with the type of leprosy as a dependent variable. RESULTS: Three hundred and ninety-eight individuals, 204 MB and 194 PB, participated in this study with 1.97% nonresponse rate. Gender, marital status, and diagnostic delay (adjusted odds ratio = 2.75 [1.66,4.65]) were associated with developing MB. Not perceiving the symptoms seriously (90, 56% [PB], 97, 51% [MB]), lack of knowledge about the disease and its complications (47, 29% [PB], 53, 28% [MB]), delayed referral by the private practitioners (11, 7% [PB], 22, 12% [MB]) were the major reasons of delay. CONCLUSION: This study identified a vulnerable group - married and migrated males. Changing from annual screening to quarterly screening along with capacity building and awareness generation of the targeted population is the need of the hour for eradicating the disease.

Diagnostic and therapeutic delays in lung cancer during the COVID-19 pandemic: a single center experience at a German Cancer center.

BACKGROUND: The COVID-19 pandemic has had negative drawbacks on the healthcare system worldwide and on individuals other than those directly affected by the virus. Delays in cancer therapy and diagnosis have been reported in the literature. We hypothesized similar effects on patients with lung cancer at our center. METHODS: We retrospectively analyzed data of patients referred to our center with newly diagnosed lung cancer from 2018 to 2022. We considered distribution of UICC Stages and time from case presentation in our multidisciplinary tumor board or from therapeutic indication from treating physician to therapy initiation (surgery, systemic therapies and radiation) to define delays in diagnosis and treatment. RESULTS: 1020 patients with newly diagnosed lung cancer were referred to our center from 2018 to 2022, with a median of 206 cases yearly (range: 200-208). Cases with Stage IV in 2020-2022 were significantly higher than in 2018-2019 (57% vs. 46%, p = 0,001). 228 operative resections took place between 2018 and 2022, 100 from January 2018 to February 2020 and 128 from March 2020 to December 2022. Median time from presentation in our tumor board to resection was also significantly longer after the beginning of the pandemic than before (22 days vs. 15,5 days, p = 0,013). No significant delays were observed for administration of systemic treatment and initiation of radiation. CONCLUSIONS: During the pandemic higher disease stages were reported for patients with lung cancer, yet there were no clinically relevant delays in treatment. In the context of the post-covid era new diagnostic strategies are necessary to facilitate early diagnosis of lung cancer. Despite the pandemic, for patients with suspicious symptoms prompt access to healthcare facilities is essential for early diagnosis.

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.

Case detection delay in leprosy: Testing tool reliability and measurement consistency in Ethiopia, Mozambique, and Tanzania.

BACKGROUND: Case detection delay (CDD) in leprosy is defined as the period between the onset of the first signs and symptoms and the time of diagnosis. A tool, consisting of a questionnaire and a detailed guide for researchers, which includes photos of typical skin signs and notes on establishing the timing of events, was developed to determine this period of delay in months in recently diagnosed leprosy patients. The aims of the study were to determine the reliability and consistency of this CDD assessment tool. METHODS: This study was conducted in Ethiopia, Mozambique and Tanzania. Two types of consistency were considered: over time (test-retest reliability) and across different researchers (interrater reliability). A CDD questionnaire was administered to 167 leprosy patients who were diagnosed within 6 months prior to their inclusion. One month later, the same or another researcher re-administered the CDD questionnaire to the same patients. Both test-retest and interrater reliability were assessed using the intraclass correlation coefficient (ICC), where a value greater than or equal to 0.7 is considered acceptable. RESULTS: In this study, 10 participants (6.0%) were under 15 years of age, and 56 (33.5%) were women. In the test-retest assessment, the mean CDD from the first and second interviews was 23.7 months (95% CI 14.4-34.8) and 24.0 months (95% CI 14.8-33.2), respectively. The ICC for test-retest reliability was 0.99 (95% CI 0.994-0.997). For the interrater reliability assessment, the first and second interviews revealed a mean CDD of 24.7 months (95% CI 18.2-31.1) and 24.6 months (95% CI 18.7-30.5), respectively, with an ICC of 0.90 (95% CI 0.85-0.94). A standard error of measurement of 0.46 months was found in the test-retest and 1.03 months in the interrater measurement. Most answers given by participants during the first and second interviews were matching (≥86%). Most non-matching answers were in the 0-2 month delay category (≥46%). CONCLUSION: The tool, including a questionnaire to determine the CDD of newly diagnosed leprosy patients, was validated in three African countries. The test-retest and interrater measurements demonstrated that the instrument is reliable and measures consistently. The tool can be used in routine leprosy programmes as well as in research settings. TRIAL REGISTRATION: This trial is registered with The Netherlands Trial Register (NTR), now available via International Clinical Trial Registry Platform (ICTRP) with registration number NL7294 (NTR7503), as well as with The Pan African Clinical Trials Registry (PACTR) with registration number PACTR202303742093429.

Patient experience of the process to diagnosis of chronic limb-threatening ischaemia: A qualitative study.

INTRODUCTION: Delays exist at each stage of the chronic limb-threatening ischaemia (CLTI) care pathway, but there is little known about patient factors influencing delay to diagnosis of CLTI. This study explores the experiences and perceptions of patients recently diagnosed with CLTI. METHODS: A qualitative interview study was conducted. Sixteen participants underwent semi-structured interviews. Reflexive thematic analysis was performed on the data, aiming to understand factors which can influence delay in the CLTI care pathway. RESULTS: Five interrelated themes were developed: CLTI is a devastating condition; Reluctance to ask for help; When we are empowered we get better care; Luck plays a role in the process to diagnosis; and Vascular units can do better, comprising sub-themes of information transfer-consider communication and arterial versus non-arterial centres-proximity isn't everything. CONCLUSIONS: The five themes generated from the interview data describe factors relevant to delay given meaning by participants who have lived experience of CLTI. Theme content should be noted by clinicians, commissioners and providers looking to improve care pathways for patients with CLTI. The importance of awareness for the public, patients and clinicians linked ideas in some themes and interventions to raise awareness should be considered.

Delayed diagnosis of persistent Q fever: a case series from China.

BACKGROUND: Q fever, caused by the zoonotic pathogen Coxiella burnetii, exhibits a worldwide prevalence. In China, Q fever is not recognized as a notifiable disease, and the disease is overlooked and underestimated in clinical practice, leading to diagnostic challenges. CASE PRESENTATION: We present a case series of three patients diagnosed with persistent Q fever between 2022 and 2023. The average age of our three cases was 63.33 years old, consisting of two males and one female. The medical history of the individuals included previous valve replacement, aneurysm followed by aortic stent-graft placement and prosthetic hip joint replacement. At the onset of the disease, only one case exhibited acute fever, while the remaining two cases were devoid of any acute symptoms. The etiology was initially overlooked until metagenomic next-generation sequencing test identified Coxiella burnetii from the blood or biopsy samples. Delayed diagnosis was noted, with a duration ranging from three months to one year between the onset of the disease and its confirmation. The epidemiological history uncovered that none of the three cases had direct exposure to domestic animals or consumption of unpasteurized dairy products. Case 1 and 2 resided in urban areas, while Case 3 was a rural resident engaged in farming. All patients received combination therapy of doxycycline and hydroxychloroquine, and no recurrence of the disease was observed during the follow-up period. CONCLUSION: Q fever is rarely diagnosed and reported in clinical practice in our country. We should be aware of persistent Q fever in high-risk population, even with unremarkable exposure history. Metagenomic next-generation sequencing holds great potential as a diagnostic tool for identifying rare and fastidious pathogens such as Coxiella burnetii.

Epidemiological, clinical and therapeutic profiles of mantle cell lymphoma cared for in a Moroccan center: a review of 14 cases.

Mantle cell lymphoma (MCL) accounts for 3-10% of non-Hodgkin's lymphomas (NHL). We identified 14 patients with mantle cell lymphoma, with an average number of 3.5 new cases/year. A male predominance was observed with a sex ratio equal to 6. The average age of our patients was 64.4±14.1 years, with an average diagnostic delay of 6.57 months. Regarding the clinical presentation, adenopathy was the most reported physical sign (78.6%) followed by B symptoms (57.1%). Disseminated stages were the most frequent in our series: stages IV (78.5%) and III (7.1%) versus stages I (0%) and II (7.1%). The extra-ganglionic localizations observed were hepatic 5 cases (31.1%), pulmonary 04 cases (25%), medullary 4 cases (25%), pleural 2 cases (12.5%) and prostate 1 case (6.2%). All diagnosed cases are mantle cell lymphomas, of which 12 cases (85.7%) are classical and 2 cases (14.3%) indolent. The high-risk group is, according to international prognostic index (MIPI) MCL prognostic score, the most represented in our series: 0-3 = 6 cases (42.9%), 6-11 = 8 cases (57.1%). The therapeutic protocol chosen 1st line: 9 patients treated with R-DHAP, three with R-CHOP, one with DHAOX and one with R-CVP. Second line: two patients treated with R-DHAP, one after R-CHOP and the other after R-CVP. Two patients received autologous hematopoietic stem cell transplant at the end of the treatment. The evolution was marked by the death of 7 patients, 3 lost to follow-up and 4 still followed. Additionally, the study highlights characteristics and treatment patterns of mantle cell lymphoma, emphasizing its predominance in males, delayed diagnosis, frequent dissemination, and high-risk classification, with chemotherapy as the primary treatment modality and a challenging prognosis contributing to a comprehensive understanding of mantle cell lymphoma presentation and management.

Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

Delayed diagnosis of mild mucopolysaccharidosis type IVA.

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal deformities. A mild form of MPS IVA often presents with atypical symptoms and can go unrecognized for years. METHODS: The diagnosis of MPS IVA was confirmed via GALNS enzyme activity testing in leukocytes. Clinical features were collected. Molecular analysis was performed by next generation sequence and Sanger sequencing of the GALNS gene. The pathogenicity of the deep intron variant was verified by mRNA analyses. RESULTS: Thirteen patients with mild MPS IVA from six families were included. All probands first visit pediatric orthopedists and it took 5.6 years to be diagnosed after the disease onset. The most common symptoms in our series were waddling gait (85%), short neck (69%) and flat feet (62%). Radiologic findings indicated skeletal abnormalities in all patients, especially modification of the vertebral bodies (100%) and acetabular and femoral head dysplasia (100%). Five novel GALNS variants, including c.121-2_121-1insTTTGCTGGCATATGCA, E2 deletion, c.569 A > G, c.898 + 2 T > A, and c.1139 + 2 T > C, were identified. The most common variant, a deep intron variant NM_000512.5: c.121-210 C > T (NM_001323544.2: c.129 C > T, p.G43G), was revealed to result in an 11 bp deletion (c.128_138delGCGATGCTGAG, p.Gly43Aspfs*5) on GALNS mRNA in the GALNS transcript of NM_001323544.2. CONCLUSIONS: This study provides significant insights into the clinical features and molecular characteristics that contribute to the early diagnosis of mild MPS IVA. On the basis of our cohort, orthopedists need to be able to recognize signs and symptoms of mild MPS IVA as well as the molecular and biochemical diagnosis so that an early diagnosis and treatment can be instituted.

Diagnostics and treatment delay in primary central nervous system lymphoma: What the neurosurgeon should know.

PURPOSE: The gold standard for diagnostics in primary central nervous system lymphoma (PCNSL) is histopathological diagnosis after stereotactic biopsy. Yet, PCNSL has a multidisciplinary diagnostic work up, which associated with diagnostic delay and could result in treatment delay. This article offers recommendations to neurosurgeons involved in clinical decision-making regarding (novel) diagnostics and care for patients with PCNSL with the aim to improve uniformity and timeliness of the diagnostic process for patients with PCNSL. METHODS: We present a mini review to discuss the role of stereotactic biopsy in the context of novel developments in diagnostics for PCNSL, as well as the role for cytoreductive surgery. RESULTS: Cerebrospinal fluid-based diagnostics are supplementary and cannot replace stereotactic biopsy-based diagnostics. CONCLUSION: Histopathological diagnosis after stereotactic biopsy of the brain remains the gold standard for diagnosis. Additional diagnostics should not be a cause of diagnostic delay. There is currently no sufficient evidence supporting cytoreductive surgery in PCNSL, with recent studies showing contradictive data and suboptimal study designs.

Sources of diagnostic delay for people with Crohn's disease and ulcerative colitis: Qualitative research study.

OBJECTIVE: An improved understanding of the causes and experience of diagnostic delay in Inflammatory Bowel Disease (IBD). METHODS: Framework analysis of semi-structured interviews with 20 adults with IBD. RESULTS: Participants' prior knowledge of normal bowel function/IBD was limited. Symptoms were sometimes misattributed to mild/transient conditions or normalised until intolerable. Family pressures, work, education, mistrust of doctors, fear and embarrassment could exacerbate delays. Poor availability of face-to-face appointments deterred people from seeing a GP. Patients feared that by the time they got to see their GP, their symptoms would have resolved. Patients instead self-managed symptoms, but often regretted not seeking help earlier. Limited time in consultations, language barriers, embarrassment, and delays in test results subsequently delayed specialist referrals. GPs misattributed symptoms to other conditions due to atypical or non-specific presentations, leading to reduced trust in health systems. Patients complained of poor communication, delays in accessing test results, appointments, and onward referrals-all associated with clinical deterioration. GPs were sometimes unable to 'fast-track' patients into specialist care. Consultations and endoscopies were often difficult experiences for patients, especially for non-English speakers who are also less likely to receive information on mental health support and the practicalities of living with IBD. CONCLUSIONS: The framework analysis demonstrates delay in the diagnosis of IBD at each stage of the patient journey. RECOMMENDATIONS: Greater awareness of IBD amongst the general population would facilitate presentation to healthcare services through symptom recognition by individuals and community advice. Greater awareness in primary care would help ensure IBD is included in differential diagnosis. In secondary care, greater attention to the wider needs of patients is needed-beyond diagnosis and treatment. All clinicians should consider atypical presentations and the fluctuating nature of IBD. Diagnostic overshadowing is a significant risk-where other diagnoses are already in play the risk of delay is considerable.

[Delayed diagnosis of osteosarcoma in adults: a prognostic factor to be considered]. / Retraso en el diagnóstico de osteosarcoma en adultos: un factor pronóstico que debemos considerar.

INTRODUCTION: different variables have been associated with a worse prognosis of patients with osteosarcoma (OS), highlighting tumor size, location in the axial skeleton and the presence of metastases. The objective of this study is to analyze the prognostic impact of diagnostic delay in osteosarcoma in adults in the Mexican population in a center specialized in sarcomas. MATERIAL AND METHODS: retrospective cohort study from January 1, 2005, to December 31, 2016, 96 patients over 21 years of age with a diagnosis of osteosarcoma were analyzed. RESULTS: the median time to diagnosis from the onset of symptoms was six months (range: 2-36). This variable was dichotomized by applying the operator-dependent curve (ROC) analysis and we determined a cut-off value greater than five months, with an area under the curve (AUC) = 0.93 [95% CI 0.86-0.97], sensitivity 93.2% and specificity 94.6%. CONCLUSION: time until diagnosis is a critical factor in the survival of adult patients with osteosarcoma, highlighting its influence on disease progression and the appearance of metastasis. The correlation between diagnostic delay and an unfavorable prognosis reinforces the need for rapid and efficient evaluation in suspected cases of osteosarcoma.

INTRODUCCIÓN: diferentes variables se han asociado con un peor pronóstico de los pacientes con osteosarcoma, destacando el tamaño tumoral, la localización en esqueleto axial y la presencia de metástasis. El objetivo de este estudio fue analizar el impacto pronóstico del retraso diagnóstico en osteosarcoma en adultos en población mexicana en un centro especializado en sarcomas. MATERIAL Y MÉTODOS: estudio de tipo cohorte retrospectiva del 1 de Enero del 2005 al 31 de Diciembre de 2016, se analizaron 96 pacientes mayores de 21 años con diagnóstico de osteosarcoma. RESULTADOS: la mediana de tiempo al diagnóstico desde el inicio de síntomas fue de seis meses (rango: 2-36). Esta variable se dicotomizó aplicando el análisis de curva dependiente de operador (ROC) y determinamos un valor de corte mayor a cinco meses con un área bajo la curva (AUC) = 0.93 [IC95% 0.86-0.97], sensibilidad 93.2% y especificidad 94.6%. CONCLUSIÓN: el tiempo hasta el diagnóstico es un factor crítico en la supervivencia de los pacientes adultos con osteosarcoma, destacando su influencia en la progresión de la enfermedad y la aparición de metástasis. La correlación entre el retraso diagnóstico y un pronóstico desfavorable refuerza la necesidad de una evaluación rápida y eficiente en casos sospechosos de osteosarcoma.

The effect of late presentation on HIV related mortality among adolescents in public hospitals of north showa zone Oromiya, Ethiopia; 2022: a retrospective cohort study.

BACKGROUND: Late human immunodeficiency virus (HIV) diagnosis is the most prominent cause of HIV/AIDS-related mortality and also increases the risk of transmission and spread of the disease in society. Adolescents are the most vulnerable population's age group for HIV infection in several settings, but expanding access to early HIV testing remains a challenge. Consequently, a significant proportion of adolescents are still dying of HIV-related causes, and the current study aimed at assessing the effect of late presentation on HIV-related mortality among adolescents living with HIV. METHODS: An institutional-based retrospective cohort study was conducted from August 21-November 21, 2022, at selected public hospitals in the North Showa Zone of Oromiya, Ethiopia. All adolescents living with HIV who had received no ART and presented for ART follow-up at public hospitals from September 1, 2012, to August 31, 2021, were included in the study. Data entry was done by Epi-data version 3.1.1 software and exported to Stata version 16 for further analysis. Both bi-variable and multivariable analyses were performed using the Cox proportional hazard model to compare the HIV-related mortality of early and late-presented adolescents using an adjusted hazard ratio at a 95% confidence interval (CI). RESULTS: A total of 341 medical records of adolescents were included in the study, contributing an overall incidence rate of 3.15 (95% CI: 2.21-4.26) deaths per 100 person-years of observation throughout the total follow-up period of 1173.98 person-years. Adolescents with late presentation for HIV care had three times the higher hazard of mortality (adjusted hazard ratio (aHR) = 3.00; 95% CI: 1.22-7.37) as compared to those with early presentation for HIV/AIDS care. Adolescents within the age range of 15-19 years old (aHR = 3.56; 95% CI: 1.44-8.77), rural residence (aHR = 2.81; 95% CI: 1.39-5.68), poor adherence to ART (aHR = 3.17; 95% CI: 1.49-6.76), and being anemic (aHR = 3.09; 95% CI: 1.52-6.29) were other independent predictors of HIV-related mortality. CONCLUSION: The study found a substantial link between HIV late presentation to care and mortality among adolescents. Residence, age, antiretroviral therapy (ART) medication adherence, and anemia status were also found to be other independent predictors of HIV-related mortality. To achieve the ultimate aim of lowering mortality among adolescents living with HIV, rigorous emphasis must be placed on early presentation for HIV/AIDS care. In addition, counseling on adherence and prompt diagnosis and treatment of anemia are highly recommended to reduce mortality.

Living with axial spondyloarthritis: a cross-sectional survey of patient knowledge and perceptions.

Diagnosis and effective treatment of axial spondyloarthritis (AxSpA) are often delayed due to inadequate awareness and poor patient-physician communication. Some AxSpA patients fail to maintain an active lifestyle by exercising regularly, further worsening their disease management. The evolving concept of patient-centred care necessitates better understanding of patient awareness and their needs. We aimed to survey AxSpA patients to reflect on healthcare planning and management perspectives. Our self-administered questionnaire focused on perceptions of AxSpA diagnosis and management, particularly exploring issues of physical activity and active lifestyle. Satisfaction with AxSpA medical care and its accessibility, diagnostic delays, patient-physician communication, and support for disease management were also explored. This offline survey was arranged at the Department of Rheumatology, Immunology, and Internal Medicine of Jagiellonian University Medical College and Krakow University Hospital. We surveyed patients with AxSpA attending outpatient clinics between December 1st, 2023 and April 22nd, 2024. The questionnaire included questions on types of physical activities, barriers to exercising, satisfaction with medical care, patient-physician interactions, diagnostic delays, and use of teleconsultations. A total of 117 patients with AxSpA were enrolled (mean age 41.62 years). The majority (n = 93, 79.5%) were employed. There was a male predominance (69, 59%). The average diagnostic delay was 5.5 years. Notably, 104 (88.9%) responders perceived physical activity as a factor influencing their disease course. However, only 32 (27.35%) managed to exercise regularly (≥ 30 min, 2-3 times a week). The majority (70, 59.83%) were irregularly engaged in some form of physical activity, with 15 (12.8%) not exercising at all, and nearly half (48%) reported at least one barrier to maintaining a physically active lifestyle. Pain (32, 27.35%), fatigue (27, 23.08%), lack of motivation (17, 14.53%), and lack of time (12, 10.26%) were noted as barriers to exercising. The respondents preferred to exercise at home. The survey identified critical areas where patient dissatisfaction or uncertainty were notably prevalent: 38 (32.5%) were uncertain and 35 (30%) were dissatisfied with rehabilitation access. For spa therapy, 63 (53.85%) reported uncertainty and 23 (19.7%) expressed dissatisfaction. Only 48 (41%) were treated by a rehabilitation specialist last year. Only 23% of AxSpA patients took part in teleconsultations last year, and 65% preferred in-person visits. While AxSpA patients recognize the importance of physical activity, significant barriers exist to engaging them regularly in exercising. Addressing these barriers through personalized, motivational, and educational strategies could improve patient outcomes. Improving patient satisfaction with healthcare services, particularly in areas of rehabilitation and physician-patient communication, is crucial for improving the overall care of AxSpA patients.

Impact of COVID-19 on paracoccidioidomycosis. Which was the most influential: The pandemic or the virus?

The impact of COVID-19 on paracoccidioidomycosis (PCM) in Argentina and the consequences generated by the pandemic are discussed. From 2018 to 3 years after the pandemic declaration, 285 proven PCM patients were registered. No association between both diseases was documented. PCM frequency decreased to extremely low levels in 2020. Mandatory social isolation and the emotional and psychological effects generated under pandemic circumstances led to delays in diagnosis, severe disseminated cases, and other challenges for diagnosis in subsequent years. Probable underdiagnosis should be considered due to the overlap of clinical manifestations, the low index of suspicion and the lack of sensitive diagnostic tools.

[A race against time: POEMS syndrome]. / "Verseny az idovel": a POEMS szindróma.

Background - POEMS syndrome is a potentially well manageable disease with an ascendant therapeutic arsenal nowadays. The early recognition of the syndrome is key to prevent serious multiorgan damage, and that is still a big challenge for physicians. With the following two case reports the authors aimed to highlight the consequences of late recognition of the disease and summarize the potential therapeutic options for POEMS syndrome.

Results - We have presented two patients’ cases with a long history of examination and treatment because of uncleared polyneuropathy. Through these cases we could see how serious could be the consequences of late diagnosis and despite multiorgan impairment there are still therapeutic options which could improve the patient’s condition. Although the diagnosis of POEMS syndrome is not easy, it must raise our mind the thought and be prudent when we start a treatment in polyneuropathy.