Delay In Diagnosis Research Articles

Two pediatric hereditary angioedemathe families: case report and literature review

Objective: To summarize the clinical characteristics of two families with hereditary angioedema in children. Methods: A retrospective analysis was conducted on the general information, clinical manifestations, genetic variations, and laboratory test results of two families diagnosed with hereditary angioedema at Department of Rheumatology and Immunology, Shenzhen Children's Hospital from December 2022 to May 2023. And using keywords such as "children" "adolescent" "infant" "toddler" "pediatric" "hereditary angioedema" search for relevant literature from VIP, Wanfang, CNKI, PubMed, Web of Science and Google Scholar from the establishment of the database until January 2024 and summarize the diagnosis and clinical characteristics of hereditary angioed in children. Results: Case 1, female, 12 years old, presented with intermittent abdominal pain for 8 years, aggravated with vomiting for 2 days. Eight years ago, without a clear cause, case 1 experienced abdominal pain and underwent two abdominal surgeries. The concentration of C1 esterase inhibitor was 0.46 g/L, and the function of C1 esterase inhibitor was less than 0.01. The SERPING1 gene had a c.1396C>G variation, and she was diagnosed with hereditary angioedema type Ⅱ. Among the other 13 family members, 8 had swelling in different parts, and 2 had died. Case 2, female, 17 years old, was diagnosed with hereditary angioedema type Ⅰ due to intermittent limb swelling for more than 2 years. She had C4 of 0.09 g/L, C1 esterase inhibitor concentration of 0.05 g/L, C1 esterase inhibitor function <0.01, SERPING1 gene c.882C>G variation. Two out of the other 12 family members experienced intermittent skin swelling. Literature review meets the search criteria with 0 Chinese literature and 15 English literature, including a total of 524 cases of hereditary angioedema in children. Combined with 2 families in this group, there are 5 families with hereditary angioedema in children as the proband. The onset time is 1-15 years old, and the diagnosis delay time is -0.9 to 20.0 years. Two hundred and sixty-three cases (50.2%) of the children had a family history survey, of which 229 cases (87.1%) had a positive family history. Two hundred and fifty-seven cases (49.0%) had clear disease classification, with type Ⅰ being the main type, accounting for 234 cases (91.1%). The clinical symptoms of 296 children (56.5%) were described in detail, including 262 cases (88.5%) with skin edema in different parts, 176 cases (59.5%) with abdominal pain, and 61 cases (20.6%) with upper respiratory tract edema in the throat. Conclusions: Hereditary angioedema is mainly characterized by episodic skin and mucosal swelling, with individualized differences in the locations and characteristics of the onset. Hereditary angioedema in children is often overlooked, and patients with a positive family history of episodic skin and mucosal swelling need to actively undergo complement level testing.

Correlation of Clinical and Electrophysiological Criteria in the Diagnosis of Guillain-Barré Syndrome: A Prospective Observational Study.

There are many criteria for diagnosing Guillain-Barré syndrome (GBS), and the yield of these diagnostic criteria varies. Each criterion requires some laboratory data and nerve conduction studies (NCS). Although supportive laboratory data are reassuring when present in suspected cases of GBS, when absent, they can potentially cause further delay in diagnosis and treatment. There is no gold standard test for the diagnosis of GBS, and there are multiple diagnostic criteria for GBS to date. The aim of the study is to know the sensitivity of different criteria, clinical and electrophysiological, for the diagnosis of GBS and to study the clinical spectrum and electrophysiological spectrum of GBS in our cohort of patients. We studied a total of 43 cases who presented with one or more of the following symptoms: relatively symmetrical and progressive flail-type weakness of more than one limb, with or without ataxia and/or ophthalmoplegia, and were diagnosed with GBS according to clinical criteria at the time of admission to Government Stanley Medical College Hospital. GBS mimics were ruled out. In all patients, the demographic data, cerebrospinal fluid (CSF) analysis (if done), and electrophysiological findings fitting into the diagnostic criteria of National Institute of Neurological Disorders and Stroke (NINDS), Dutch, and Brighton criteria were recorded. The need for assisted mechanical ventilation, neurology intensive care unit (NICU) stay, any complications, and treatment outcome details were recorded in a structured proforma. Most of the patients in our study were in their fourth decade of life, with a mean age of 41.37 years, similar to previous studies from India. Men are more frequently affected compared to women, similar to what has been observed in most studies done previously worldwide. In our study, electrophysiological criteria by Dutch criteria (87.5%), Brighton criteria (87.5%), and NINDS criteria (85.6%) had low sensitivity compared to the clinical criteria. In the present study, electrophysiological criteria proposed by the NINDS, Dutch, and Brighton criteria are less sensitive compared to clinical criteria in diagnosing GBS at early stages. Clinical criteria alone may be useful in resource-poor countries and at peripheral healthcare systems where NCS are not always readily available.

Long term outcome of C1-esterase inhibitor deficiency.

Hereditary angioedema (HAE) is a rare hereditary disorder characterized by episodic swelling and life-threatening airway obstruction caused by laryngeal angioedema. In most HAE patients, reduced level of serum C1-Inhibitor (type-I-HAE) or presence of aberrant C1-Inhibitor (type-II-HAE) result in the lost of regulation of the complementary system and contact activation system with downstream over-activation of bradykinin - the chief mediator leading to angioedema. Type-III HAE (HAE-nl-C1INH) is rare without deficient or dysfunction of C1-Inhibitor, often with genetic aberrant related to the contact activation system. The prevalence of HAE in the population is estimated at 1 in 50,000 individuals, often with early onset, but due to the heterogeneity of the disease, there is frequently a significant delay in diagnosis. Recently, better awareness by physicians, more access to diagnostic tools, better management and prophylaxis has decreased morbidity and mortality. A focus in HAE patient care shift from management of attacks with on-demand medication, to use of prophylaxis to reduce attacks has improved the overall quality of life of patients with HAE. One area in HAE research that has not been emphasized is the long-term consequence of C1-INH deficiency in HAE patients, other than the typical manifestations of HAE, as evidence have emerged linking this disorder with increased risk of cardiovascular diseases, auto-immune disorders, and malignancy. This review aims to gather the current knowledge and evidence of potential consequence of C1-Inhibitor deficiency in HAE aside from angioedema with emphasis in the improvement of long-term care and overall quality of life for HAE patients.

Sepsis in obstetric care for the emergency clinician: A review

Sepsis remains a leading cause of mortality among pregnant and recently pregnant patients, rendering it a subject of vital importance to emergency clinicians in the US. However, death by sepsis has been found to be largely preventable with prompt and appropriate intervention. This narrative review provides a summary of the physiologic, epidemiologic, and systemic factors specific to obstetric sepsis that contribute to delays in diagnosis and treatment. Additionally, it provides a framework for emergency department providers to approach infection identification, antimicrobial selection, and appropriate resuscitation prior to disposition.

Psychosocial Adaptation in Lung Cancer Patients: a Literature Review

ABSTRACT Lung cancer is one type of cancer with the highest mortality rate, this is often due to delays in diagnosis and the impact of prognosis which can affect the psychosocial adaptation of lung cancer patients. Analyze psychosocial adaptation problems in lung cancer patients, their impacts, and treatment strategies. Systematic review used the PRISMA protocol and JBI scoring tool to determine eligible articles. Five electronic databases were used (Pubmed; Science Direct and Google Scholar. Inclusion criteria included research on lung cancer published in English in the last ten years (2014-2024). The results showed that 20 articles met the inclusion criteria. The results of the review show several common problems experienced by lung cancer patients, including depression, anxiety, social isolation, stigmatization, mental health problems, and difficulties in adaptation. The impact is a decrease in emotional well-being, a reduction in quality of life, an increase in physical symptoms, and a worsening of the disease prognosis. Several prevention strategies include providing multidisciplinary therapy through supportive and palliative care, improving the quality of psychosocial health services, cognitive behavioral therapy, social support therapy, psycho-education, increasing social support, spiritual treatment, increasing healthy behavior, and using confrontation and stress coping. Psychosocial problems experienced by lung cancer patients are often complex and can include various aspects. Several common issues experienced by lung cancer patients are related to psychosocial problems. The impact of psychosocial problems can worsen the prognosis of lung cancer so several treatment efforts are needed to overcome psychosocial problems in lung cancer patients. Keywords: Adaptation, Lung Cancer, Literature Review, Psychosocial

Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.

Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymphoproliferative immunodeficiencies (ALPID) other than ALPS, inattention to which would increase the delay in diagnosis of the underlying genetic defect and hinder disease-specific treatment. This cross-sectional study recruited patients suffering from ALPID (exclusion of ALPS) with established genetic diagnosis. Following thorough history taking, immunophenotyping for lymphocyte subsets was performed using BD FACS CaliburTM flowcytometry. Fifteen non-ALPS ALPID patients (60% male and 40% female) at a median (interquartile range: IQR) age of 14.0 (7.6-21.8) years were enrolled. Parental consanguinity and family history of immunodeficiency were present in 8 (53.3%) patients. The median (IQR) age at first presentation, clinical and molecular diagnosis were 18 (4-36) months, 8.0 (4.0-17.0) years, and 9.5 (5.0-20.9) years, respectively. Molecular defects were observed in these genes: LRBA (3, 20%), CTLA-4 (2, 13.3%), BACH2 (2, 13.3%), AIRE (2, 13.3%), and FOXP3, IL2Rβ, DEF6, RASGRP1, PIK3CD, and PIK3R1 each in one patient (6.7%). The most common manifestations were infections (14, 93.3%), autoimmunity (12, 80%), and lymphoproliferation (10, 66.7%). The median (IQR) count of white blood cells (WBCs) and lymphocytes were 7160 (3690-12,600) and 3266 (2257-5370) cells/mm3, respectively. The median (IQR) absolute counts of CD3+ T lymphocytes and DNTs were 2085 (1487-4222) and 18 (11-36) cells/mm3, respectively. Low lymphocytes and low CD3+ T cells were observed in 3 (20%) patients compared to normal age ranges. Only one patient with FOXP3 mutation had DNT cells higher than the normal range for age. Most non-ALPS ALPID patients manifested normal DNT cell count. For a small subgroup of patients with high DNT cells, defects in other IEI genes may explain the phenotype and should be included in the diagnostic genetic panel.

51870 Delay in diagnosis and undertreatment of lichen sclerosus in adult male patients: a retrospective case series

51870 Delay in diagnosis and undertreatment of lichen sclerosus in adult male patients: a retrospective case series

449. CAN LARGE ANASTOMOTIC LEAKAGE AFTER ESOPHAGEAL SURGERY BE TREATED BY ENDOLUMINAL VACUUM-ASSISTED CLOSURE (EVAC THERAPY)?: A CASE REPORT

Abstract Background Anastomotic leakage after esophageal surgery is a deadly complication which approach is still under debate. The high morbimortality of the surgical approach has led to debate whether there are any alternative treatments. The appropriate strategy is based on many factors that include patient’s general conditions, size of anastomotic leakage and diagnosis delay. EVAC (Endoscopic vacuum assisted wound closure) is an emerging technique to treat these patients that can be placed either into the cavity or in the lumen under endoscopic guidance. It is then connected to a negative continuous pressure of 75-125mmhg and then reviewed after 3-4 days. Methods A 62-year-old man with esophageal squamous cell carcinoma underwent neoadjuvant chemoradiotherapy, followed by a minimally invasive Mckeown esophagectomy. On the fourth postoperative day, inflammatory indexes increased, and a CT scan showed an anastomotic leakage. It was decided to perform an endoscopy that showed that the leakage was about 70% of the anastomosis opening to a wound cavity of 5cm with necrotic tissue and fibrosis. Due to the clinical stability of the patient, it was decided to treat the anastomotic leakage conservatively by EVAC therapy. Results To start the EVAC therapy a polyurethane sponge was placed in the cavity via an overtube during the first endoscopy. The patient underwent a total of 14 EVAC sessions over 85 days. As we performed the sessions, healthy granulation tissue appeared leading the leakage and the cavity size to progressively improve. After the 13th session, the endoscopic evaluation showed a healed anastomosis. A CT scan with oral contrast was performed showing leak resolution. The patient started oral intake and was discharged after four days. Conclusions Treatment of anastomotic leakage after esophagectomy is still challenging and presenting high morbidity. The appropriate strategy needs to be individualized. Although surgical reintervention was the classical approach for these patients, new strategies have appeared like the EVAC. It is a promising option to improve the outcome of patients with transmural leakages who would otherwise require surgery. It has demonstrated that it is a reliable, safe and effective treatment.

Efficient and novel multidomain feature analysis model with incremental optimizations for enhancing pediatric myelodysplastic syndrome detection

Pediatric myelodysplastic syndromes (MDS) are complicated, thus early and accurate diagnosis is essential for treatment planning and patient care. Diagnostic processes often use discrete data domain analysis, which reduces accuracy and delays diagnosis. This work addresses these limitations by introducing an advanced Multi domain Feature Analysis Model (MFAM) enhanced with incremental optimizations to improve pediatric MDS detection. Traditional pediatric MDS diagnosis relies on subjective evaluations and limited data fusion, not modern computational methods. These constraints may reduce diagnosis accuracy and postpone action. The proposed MFAM integrates data from Clinical History, Physical Examination, Blood Cell Counts, Peripheral Blood Smear, Bone Marrow Aspiration and Biopsy, Cytogenetic Analysis, Flow Cytometry, Genetic Testing, Iron Studies, and Bone Marrow Cytology to overcome these challenges. The MFAM increases feature variance by fusing Bidirectional Long Short-Term Memory (BiLSTM) with Bidirectional Gated Recurrent Units (BiGRU). Deep Q Learning with Graph Recurrent Convolutional Neural Networks (DQGRCNN) boosts efficiency. Additionally, the model integrates the Vector Autoregressive Moving Average with Exogenous Inputs (VARMAX) to facilitate early prediction of paediatric MDS. These enhancements have resulted in significant improvements in the precision of paediatric MDS detection by 4.5%, accuracy by 3.5%, recall by 2.3%, Area Under the Curve (AUC) by 1.5%, and specificity by 2.4% while reducing diagnostic delays by 8.5%. Furthermore, the model enhances the precision of predictive analysis by 2.9%, accuracy by 3.5%, recall by 2.5%, AUC by 2.9%, specificity by 5.5%, and reduces delays in predictive analysis by 8.5%. The MFAM presented in this paper revolutionizes the diagnosis and treatment of paediatric MDS by efficiently combining diverse diagnostic data, employing advanced transformation and fusion techniques, and optimizing responses through DQGRCNN. The integration of VARMAX further enables early prediction of the disease. MFAM will enhance diagnostic precision, therapy start, and clinical outcomes for young MDS patients.

1569P Secondary delay in breast cancer diagnosis and role of rural medical practitioners: A cause and cure finding study

1569P Secondary delay in breast cancer diagnosis and role of rural medical practitioners: A cause and cure finding study

Identification and Quantification of Precursory Changes of Rheumatoid Vasculitis in the Dorsalis Pedis Artery

ObjectiveRheumatoid arthritis (RA) is a systemic connective tissue autoimmune disease that can infiltrate arterial walls. The delay in diagnosis and treatment of rheumatoid vasculitis (RV) in patients with RA may lead to irreversible damage to the arterial walls of small-to-medium vessels, which has serious and devastating consequences, most notably lung and cardiac damage. In this work an ultrasound image-based biomarker was developed to detect precursory changes in RV. MethodsThe ground truth was initiated from a medical diagnosis of RA, with arterial wall thickening of the proximal dorsalis pedis artery (DPA) indicating precursory changes of RV identified with ultrasound scanning. Ultrasound images of the DPA from 49 healthy subjects in the control group and 46 patients in the RA group were obtained. In total, 187 texture features were extracted from the images, followed by principal component analysis and linear discriminant analysis. ResultsThe proposed biomarker detected a significant difference between the two groups (p = 5.74 × 10-18) with an area under the receiver operating characteristic curve of 0.85. Ten major textural features contributing most heavily to the biomarker were identified, with these textures being consistent with clinical observations of RV identified in previous studies. Interscan reproducibility was assessed by computing the biomarker twice based on repeated scans of each ankle. High interscan reproducibility was demonstrated by a strong and significant Pearson's coefficient (r = 0.85, p < 0.01) between the two repeated measurements of the proposed biomarker. ConclusionThe proposed biomarker can discriminate image textural differences seen in images acquired from RA patients, demonstrating precursory changes in RV compared with healthy controls. The major discriminative features identified in this study may facilitate the early identification and treatment of RV.

Ethylene Glycol Poisoning with Acute Liver Injury Due to Delayed Diagnosis: An Autopsy Case Report and Literature Review

Ethylene glycol (EG), commonly used as antifreeze, is frequently ingested accidentally or in suicides, and causes acute renal failure. We report an unusual case of EG poisoning with acute liver injury. After vomiting and loss of consciousness, a 48-year-old male was admitted to the emergency room. Despite prompt conservative treatment for metabolic acidosis, kidney function deteriorated, necessitating the continuous renal replacement therapy. Blood toxicology results, showing EG levels of 510 mg/L, arrived 10 hours after admission. Oral ethyl alcohol therapy commenced 16 hours post-admission. By 36 hours, liver function tests indicated significant liver damage, and the patient died 45 hours upon admission. On autopsy, histological findings were hepatic centrilobular necrosis, cerebral perivascular neutrophilic and lymphocytic infiltration with calcium oxalate deposition, and renal tubular necrosis with calcium oxalate deposition. EG concentrations in the blood and gastric contents were 18.7 mg/L and 45.0 mg/L, respectively. Glycolic acid and oxalic acid, metabolites of EG produced by alcohol dehydrogenase in the liver, cause metabolic acidosis, renal tubular calcium oxalate deposition, and acute renal failure, leading to death. Generally, because fomepizole or ethyl alcohol block alcohol dehydrogenase in the liver, acute liver injury by EG poisoning is rare. To the best of authors’ knowledge, only one relevant report was found in the literature described a case in which EG caused centrilobular necrosis in liver. In the current case, delays in diagnosis and antidote therapy without gastric lavage allowed continued metabolism of EG which led to acute liver injury and acute renal failure.

La enfermedad fúngica: el acoso y derribo del más débil

Fungal diseases encompass a wide range of conditions, from superficial skin infections to potentially life-threatening systemic diseases. The burden of severe fungal diseases is considerable, with millions of cases annually and high mortality rates. However, accurate epidemiological information is lacking due to limited surveillance. Their diagnosis and treatment present significant challenges, especially in resource-limited settings. Globally, there is a notable shortage of specialists experienced in fungal diseases. This scarcity contributes to delays in diagnosis and empirical treatment, with the consequences that this entails for the patient. The integration of artificial intelligence into medical practice promises to improve the diagnosis and management of fungal diseases. However, careful validation and training of algorithms are essential to ensure their effectiveness and equity. In conclusion, we call on relevant institutions to recognize the need for public funding for a project whose sole aim is to ensure that fungal diseases are incorporated into the realm of equal opportunities and rights, rather than remaining hidden and relegated to elitist institutions where professionals have the knowledge and tools to diagnose and treat them.

Clinical characteristics, management, and survival of retinoblastoma patients: a five-year study at an Indonesian tertiary eye hospital

Background Studies on the clinical characteristics of retinoblastoma in Indonesia have been limited, even though retinoblastoma is the most common pediatric ocular malignancy worldwide and the second-most common pediatric malignancy in Indonesia. The estimated patient survival rate in lower-middle-income countries is 77%, and survival is highly dependent on early diagnosis and therapy. Objective To identify the clinical characteristics of retinoblastoma in patients at the Cicendo National Eye Hospital, as an Indonesian tertiary eye hospital. Methods This retrospective, observational study included pediatric patients &lt;18 years of age diagnosed with retinoblastoma at the Cicendo National Eye Hospital, Bandung, West Java, between January 2018 and December 2022. We collected patients’ medical record data on age, gender, laterality, chief complaints, stage of disease, grouping, histopathologic features, therapy, and survival. Results Of 247 retinoblastoma patients (328 eyes) enrolled, 53.85% presented at 1-2 years of age and 50.61% were males. Patients mostly presented with unilateral (67.21%) retinoblastoma, leukocoria (51.82%) as the chief complaint, and classified as International Retinoblastoma Staging System (IRSS) stage III (33.20%). Tumors were mostly intraocular (58.84%), particularly group E (39.02%). Most tumors showed undifferentiated (45.43%) and high-risk features (54.27%). Most eyes were treated with combination therapy (74.09%), particularly local and systemic therapy (59.45%). Survival was noted at 18.62% of patients, but 62.75% of patients were lost to follow-up. Conclusion Most patients present with advanced retinoblastoma. Most histopathological results shows undifferentiated and high-risk features of the tumor. Delays in diagnosis and therapy may occur due to a lack of awareness and knowledge regarding clinical manifestations of retinoblastoma, which leads to worse prognosis.

C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal

BackgroundC9orf72 gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort. MethodsDemographical and clinical data of MND patients with (C9RE+) and without C9RE were compared. ALS al Rating Scale-Revised (ALSFRS-R) and Edinburgh Cognitive and Behavioural ALS Screen (ECAS) were used to evaluate functional and cognitive performance, respectively. Survival analysis was performed using Kaplan Meier log-rank test and Cox proportional hazards model. ResultsWe included 761 patients of whom 61 (8.0 %) were C9RE+. C9RE+ patients had a higher frequency of ALS (95.1 vs 78.4 %, p = 0.002), and lower frequency of progressive muscular atrophy (3.3 vs 16.7 %, p = 0.006). C9RE+ was associated with earlier age of onset (58.1 vs 62.6 years, p = 0.003) and more frequent MND family history (65.5 vs 11.4 %, p < 0.001). Gender, ethnicity, onset site, diagnostic delay, disease progression rate until diagnosis (ΔF), ALSFRS-R and time until non-invasive ventilation did not differ between groups. Cognitive/behavioural symptoms and ECAS did not differ between groups, except a worse visuospatial score in C9RE+ group (p = 0.035). Death rate was 1.8 and 1.6 times higher in C9RE+ patients with MND and ALS, respectively. Significant survival prognostic factors in C9RE+ group were diagnosis delay (HR = 0.96, 95 %CI 0.92–0.99, p = 0.008) and ΔF (HR = 1.93, 95 %CI 1.26–2.96, p = 0.002). ConclusionOur study corroborates most previous cohorts' findings, but harbours some singularities regarding onset site, phenotype, and cognitive profile, that contribute to a better understanding of C9RE epidemiology.

Patient-Oriented Questionnaires and Machine Learning for Rare Disease Diagnosis: A Systematic Review.

Background: A major challenge faced by patients with rare diseases (RDs) often stems from delays in diagnosis, typically due to nonspecific clinical symptoms or doctors' limited experience in connecting symptoms to the underlying RD. Using patient-oriented questionnaires (POQs) as a data source for machine learning (ML) techniques can serve as a potential solution. These questionnaires enable patients to portray their day-to-day experiences living with their condition, irrespective of clinical symptoms. This systematic review-registered at PROSPERO with the Registration-ID: CRD42023490838-aims to present the current state of research in this domain by conducting a systematic literature search and identifying the potentials and limitations of this methodology. Methods: The review adheres to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and was primarily funded by the German Federal Ministry of Education and Research under grant no. 16DHBKI056 (ki4all). The methodology involved a systematic search across the databases PubMed, Semantic Scholar and Google Scholar, covering articles published until June 2023. The inclusion criteria encompass examining the use of POQs in diagnosing rare and common diseases. Additionally, studies that focused on applying ML techniques to the resulting datasets were considered for inclusion. The primary objective was to include English as well as German research that involved the generation of predictions regarding the underlying disease based on the information gathered from POQs. Furthermore, studies exploring identifying predictive indicators associated with the underlying disease were also included in the literature review. The following data were extracted from the selected studies: year of publication, number of questions in the POQs, answer scale in the questionnaires, the ML algorithms used, the input data for the ML algorithms, the performance of these algorithms and how the performance was measured. In addition, information on the development of the questionnaires was recorded. Results: This search retrieved 421 results in total. After one superficial and two comprehensive screening runs performed by two authors independently, we ended up with 26 studies for further consideration. Sixteen of these studies deal with diseases and ML algorithms to analyse data; the other ten studies provide contributing research in this field. We discuss several potentials and limitations of the evaluated approach. Conclusions: Overall, the results show that the full potential has not yet been exploited and that further research in this direction is worthwhile, because the study results show that ML algorithms can achieve promising results on POQ data; however, their use in everyday medical practice has not yet been investigated.

Narcolepsy and Idiopathic Daytime Hypersomnia: A Study of Cohort in the Chilean Population

Introduction: Central disorders with hypersomnolence (CDH) are a group of sleep disorders characterized by excessive daytime sleepiness (EDS) that can be related to REM-sleep dissociative symptoms. They have a low prevalence in the population and may not be explained by other medical conditions. Materials and methods: A cohort of 59 Chilean patients with the most common types of CDH were studied. Clinical data, and results of polysomnography (PSG) plus multiple sleep latency tests (MSLT) were analyzed.. Results: The median age of the cohort was 35.26 ± 13.23 years (69.5% female). Diagnosis of narcolepsy Type 1, narcolepsy Type 2, and idiopathic daytime hypersomnia, were determined in 54.2%, 23.7% and 22% of patients respectively. All patients reported EDS, while 57.6%, 81.4% and 78% reported cataplexy, sleep paralysis and hypnagogic/hypnopompic hallucinations respectively. Polysomnographic studies showed non relevant alterations in the majority of patients. The MLTS was abnormal in all patients, 78% of them with 2 or more sleep onset REM periods (SOREMP). In 52.5% of cases, the delay in final diagnosis was more than 5 years. About a third of patients had another sleep disorder that could not explain the severity of EDS. We observed a comorbidity with an immunological disorder in 30.5% of patients. Conclusion: The EDS is the main symptom in CDH. Related REM-sleep symptoms and MSLT alterations were the second most important features to establish final diagnosis. However, we observed a significant delay in CDH diagnosis in the majority of patients.

Portable Sensing Probe for Real-Time Quantification of Ammonia in Blood Samples.

The detection of ammonia levels in blood is critical for diagnosing and monitoring various medical conditions, including liver dysfunction and metabolic disorders. However, traditional diagnostic methods are slow and cumbersome, often involving multiple contact-based steps such as ammonia separation in alkali conditions followed by distillation or microdiffusion, leading to delays in diagnosis and treatment. Herein, we developed a colorimetric assay capable of rapid detection of ammonia in whole blood or plasma samples, utilizing 2,2,6,6-tetramethylpiperidine 1-oxyl (TEMPO)-oxidized cellulose nanocrystals (TCNC) coupled with gold nanoparticles (AuNPs). The basis of our assay relies on either (i) the interaction between the carboxylate group (-COO) of TEMPO and ammonium ions or (ii) the manipulation of AuNPs surface plasmon resonance (SPR) through the formation of Au(NH3)43+, which displaces a redox mediator, resazurin, resulting in observable multicolor displays at various concentrations of ammonia. The colorimetric assay exhibits a wide linear detection range for dissolved NH4+ (0.1-37 μM) with a low limit of detection (LOD) of 0.1 μM. Additionally, it effectively measures NH3(g) concentrations in the range of 0.5-144 μM. The fabricated electrochemical nose (E-nose) device demonstrates excellent analytical performance for plasma ammonia sensing (0.05-256 μM). Experimental results demonstrate a linear detection range suitable for clinical applications, with excellent correlation to standard laboratory methods, offering a practical solution for point-of-care (PoC) testing. We anticipate that this approach can be applied broadly to improve patient monitoring and treatment by providing immediate and accurate ammonia measurements in a clinical setting.

Are Medical Students and Primary Health-care Professionals Aware of Neonatal Cholestasis and Acholic Stool.

Early diagnosis of biliary atresia (BA) and the timing of Kasai hepatic portoenterostomy are associated with improved survival rates of the native liver. Acholic stool is a major and earliest sign of BA. We evaluated the awareness and recognition of medical students and primary health care professionals (PHCPs) about neonatal cholestasis and acholic stool as a marker of BA. The knowledge of students and PHCP about prolonged jaundice and acholic stool was evaluated through a questionnaire. In the first step, 5 questions evaluating the knowledge of prolonged jaundice were asked. The sixth question was "Have you ever seen acholic stool before?" Following this question, stool color cards with 9 colors were shown, and participants were asked "Which of the following stool pictures would you define as acholic?" A total 724 students and 88 PHCPs were included in the study. In both groups, about half of the participants could not answer the first 4questions related to prolonged jaundice and cholestasis correctly. Twenty-four percent of the students and 11.4% of PHCP answered correctly to all of the stool colors. The rate of correct answers to acholic stool colors were approximately 43.9%-87.6% and 23.9%-86.4% for students and PHCP, respectively. Whitish acholic stool colors were better known than mild yellowish pale stool colors. The percentages of recognition were less than about 50% for these stool colors. This study showed that recognition and awareness of prolonged jaundice are low, and acholic stool is not well known. This may lead to delay in diagnosis. Considering the international success of stool color cards, using stool color cards will improve the outcomes of biliary atresia in our country as well.

A Man with Sudden Onset Leg Pain and Weakness

Case Presentation: An 89-year-old male who had been holding dabigatran in the setting of transcarotid artery revascularization presented to the emergency department with sudden onset leg pain and weakness. Computed tomography angiography revealed acute aortic occlusion and thrombosis of the bilateral common iliac arteries. He underwent aortoiliac and femoral embolectomies and stenting of the bilateral common iliac arteries and returned to his baseline functional status. Discussion: Acute aortic occlusion is a rare but often devastating vascular emergency characterized by obstruction of the aorta by an embolus or thrombosis. Diagnosis can be challenging as it may be mistaken for spinal pathology, which can lead to delays in diagnosis. Despite advances in diagnostic modalities and interventions, acute aortic occlusion often results in high rates of major morbidity and mortality.