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.

Delayed Correction of Intra-articular Lateral Head Fracture of the Proximal Phalanx of the Great Toe in Children.

Backgroud: Conservative treatment of intra-articular lateral head fracture of the proximal phalanx (LHFPP) of the great toe in young children has a high rate of nonunion, leading to hallux valgus interphalangeus (HVIP). This study presents a case series of surgically managed, late-diagnosed LHFPP, highlighting the difficulties of the surgery and presenting satisfactory results. Methods: Nine unilateral cases (8 late-diagnosed and 1 acute) were treated by open reduction and Kirchner wire fixation. The average time from trauma to surgery was 2.9 years (range, 0.5-10.1 years) in our late-diagnosed cases. The average age at the time of operation was 9.2 years (range, 3.4-16.3 years). The causes of injury were various. Intraoperative findings were reviewed through medical records and photographs. Pre- and postoperative HVIP angle, American Orthopedic Foot and Ankle Society (AOFAS) score, and range of motion of the interphalangeal joint were measured and compared statistically. Results: Progressive HVIP was a chief complaint in all 8 late-diagnosed cases. Bony fragment size depended on the time elapsed after trauma (fragments increased in size due to ossification of cartilage) with a mean of 23.5% articular involvement. Four cases required bone graft, and union was achieved in all cases. The mean HVIP angle improved from a mean of 17.8° to 10.5°. The average AOFAS score and range of motion were significantly improved after surgery. Conclusions: Although LHFPP is rare and difficult to diagnose, even cases detected long after the initial trauma can be successfully treated, albeit with difficulty. All 9 of our patients had successful outcomes when treated by open reduction and internal fixation.

Delay in the Diagnosis of Patients With Head and Neck Cancer: Impact of Different Patient- and Healthcare Provider-Related Factors.

Background In our setup, head and neck cancer (HNC) is the most common, and patients frequently present at an advanced stage, which results in dismal outcomes. Delays on the part of the patient (such as resistance to seeking treatment) or the provider (such as misdiagnosis or an extended wait period for consultation) may be the cause of a late presentation. The presentation stage may vary depending on several factors, including age, gender, smoking status, job status, and education. Objectives The study aims to identify factors that lead to advanced-stage presentations of HNCs and to determine the delays brought on by patient- or healthcare provider-related factors and how these factors affect HNC disease staging among biopsy-proven HNC patients. Materials and methods Participants in the study were those who initially presented with a biopsy-verified HNC at the cancer clinic of the department of otolaryngology-head and neck surgery at Pakistan Institute of Medical Sciences (PIMS), Islamabad. Patients answered questions on their first symptom presentation, past healthcare professional visits, and intervals between visits on a Cancer Symptom Interval Measure (C-SIM) questionnaire. For every patient, clinical and demographic information was gathered. TNM staging was completed. The test of significance was applied where applicable. Results Age, gender, education level, and smoking status had no bearing on the presentation stage. Patients without jobs present at a statistically significant higher stage (p = 0.038). The most prevalent histological form of HNC was squamous cell carcinoma 79 (82.29%), with the oral cavity and larynx being the most common sites of the disease 30 (31.25%) and 29 (30.21%) respectively. Patients took an average of 5.28 ± 9.12 months from the onset of symptoms to their first appointment with a healthcare provider. Prior to diagnosis, the majority of patients saw three or more healthcare providers (range: 1-8). The duration from the initial visit to a healthcare provider to the initiation of treatment was 3.06 ± 5.88 months. Based on the stage at presentation, there were no discernible variations in the times to presentation (p>0.05). Conclusion Significant delays and high stage of presentation are caused by unemployment. The majority of the delay was caused by the patient's tardiness in seeing a medical practitioner, yet the presentation stage was not greatly impacted by this delay.

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.

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.

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.

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.

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.

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.

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.

Time-to-Treatment Delays and Their Prognostic Implications in Pharyngeal Cancer-An Exploratory Analysis in Western Romania.

BACKGROUND: Diagnosis and treatment for pharyngeal cancer are decisive in determining prognosis. Diagnosis delays are frequent, representing a significant cause of avoidable mortality, and an important factor in subpar survival across the continuous HNC care delivery. METHODS: The present study represents a retrospective analysis of medical records from Western Romania, which included 180 patients, to evaluate the impact of time-to-treatment delay on patients diagnosed with pharyngeal cancer. The data analyses were performed using the Kaplan-Meier method R (version 3.6.3) packages, including tidyverse, final-fit, mcgv, survival, stringdist, janitor, and Hmisc. RESULTS: The mean days from diagnosis until the end of treatment were higher for the nasopharynx group. Cox regression analysis regarding diagnosis to treatment duration categories showed an increased risk mortality by 3.11 times (95%CI: 1.51-6.41, p = 0.0021) with a Harrell's C-index of 0.638 (95%CI: 0.552-0.723). The hypopharynx and oropharynx locations increased risk mortality by 4.59 (95%CI: 1.55-13.55) and 5.49 times (95%CI: 1.79-16.81) compared to the nasopharynx location. CONCLUSIONS: The findings of this study led to the conclusion that it seems there is a trend of mortality risk for oropharynx and hypopharynx cancers due to delays in the time to treatment over 70 days, standing as a basis for further research as there is an imperative need for prospective multicenter studies.

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.

Update in the management of gastroenteropancreatic neuroendocrine tumors.

Neuroendocrine neoplasms are a diverse group of neoplasms that can occur in various areas throughout the body. Well-differentiated neuroendocrine tumors (NETs) most often arise in the gastrointestinal tract, termed gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Although GEP-NETs are still uncommon, their incidence and prevalence have been steadily increasing over the past decades. The primary treatment for GEP-NETs is surgery, which offers the best chance for a cure. However, because GEP-NETs are often slow-growing and do not cause symptoms until they have spread widely, curative surgery is not always an option. Significant advances have been made in systemic and locoregional treatment options in recent years, including peptide-receptor radionuclide therapy with α and ß emitters, somatostatin analogs, chemotherapy, and targeted molecular therapies.

Modified Senning Procedure for Treatment of Transposition of the Great Arteries with Crisscross Heart.

CLINICAL DATA: A nine-month-old female infant diagnosed with transposition of the great arteries with symptoms of heart failure associated with cyanosis and difficulty in gaining weight was referred to our center with late diagnosis (at nine months of age). CHEST RADIOGRAPHY: Cardiomegaly; attenuated peripheral vascular markings.Electrocardiography: Sinus rhythm with biventricular overload and aberrantly conducted supraventricular extra systoles. ECHOCARDIOGRAPHY: Wide atrial septal defect, ventricular axis torsion with concordant atrioventricular connection and discordant ventriculoarterial connection. COMPUTED TOMOGRAPHY ANGIOGRAPHY: Concordant atrioventricular connection, right ventricle positioned superiorly and left ventricle positioned inferiorly; discordant ventriculoarterial connection with right ventricle connected to the aorta and left ventricle connected to pulmonary artery. DIAGNOSIS: Crisscross heart is a rare congenital heart defect, accounting for 0.1% of congenital heart diseases. It consists of the 90º rotation of ventricles' axis in relation to their normal position; therefore, ventricles are positioned in the superior-inferior direction rather than anterior-posterior. Most cases have associated cardiac anomalies, and in this case, it is associated with transposition of the great arteries. The complexity and rarity of its occurrence make diagnosis and surgical treatment challenging. OPERATION: Modified Senning procedure using the pericardial sac in the construction of a tunnel from pulmonary veins to the right atrium. Cardiopulmonary bypass time of 147 minutes with nine minutes of total circulatory arrest.

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.

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.

Delayed diagnosis in a child with strangulated mesenteric hernia.

Background: Strangulated intestinal obstruction is a life-threatening condition that should be considered as a differential diagnosis in children with shock. However, it has pitfalls in diagnosis and can lead to diagnostic errors. Case Presentation: A 3-month-old male patient presented with a pale complexion lasting 2 h and abnormal crying. He was in shock with lactic acidosis, altered mental status, and slight abdominal distension. He required volume resuscitation, vasoactive agents, and transfusion. On Day 2, he had marked abdominal distension and acute kidney injury, which required continuous kidney replacement therapy. Contrast-enhanced computed tomography revealed extensive intestinal ischemia. It took 33.5 h from his arrival to the computed tomography, leading to operative management. The small intestine had entered a mesenteric hiatus, leading to ischemia. He was diagnosed with strangulated mesenteric hernia. Conclusion: In this case, four pitfalls led to delayed diagnosis. Factors for diagnostic errors specific to strangulated intestinal obstruction and intensive care should be noted.

Challenges and Uncertainties in the Diagnosis of Cardiac Amyloidosis: A Case Report.

Amyloidosis is the condition when starch-like misfolded proteins form insoluble fibrils that deposit in tissues and cause dysfunction. Cardiac amyloidosis occurs due to the deposition of amyloid fibrils at the cardiac level and is an important cause of heart failure. This case reveals a patient with significant heart failure and arrhythmia, which later on turned out to be caused by cardiac amyloidosis. While regarded as a rare disease in practice, in retrospect, there are a lot of signs and imaging indicators, particularly in echocardiography that warrant an investigation of cardiac amyloidosis. In this case review, red flags in echocardiography that should endorse further testing for underlying cardiac amyloidosis are highlighted.

Delayed diagnosis of ocular graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.

PURPOSE: To investigate the delayed diagnosis of chronic ocular graft-versus-host disease (coGVHD) after allogeneic hematopoietic stem cell transplantation (alloHCT), and further analyze potential confounding factors. METHODS: This cross-sectional study included 118 patients newly diagnosed as coGVHD after alloHCT at Zhongshan Ophthalmic Center, Sun Yat-sen University. All participants finished the flow path of medical history taking, detailed ophthalmological examination and questionnaire-based survey. coGVHD was diagnosed and graded by International Chronic Ocular GVHD Consensus Group (ICOGCG) criteria. Lag time of diagnosis was defined as interval between noting of ocular symptoms and confirmed diagnosis of coGVHD (TN-D). We further compared the clinical parameters between groups categorized by the median TN-D as medium and long delay groups. RESULTS: The median TN-D was 6.3 [IQR 2.8-14.5] months. Most coGVHD patients underwent delayed diagnosis of coGVHD longer than 3 months (70 %, 83 of 118), with 90 of 118 diagnosed as severe coGVHD (76 %). The long delay group exhibited higher ICOGCG scores (10 [IQR 9-10.5] vs. 9 [IQR 8-10], P = 0.039) and more pronounced ocular signs, including conjunctival injection, meibomian gland loss, fibrotic tarsal conjunctiva, symblepharon, and corneal complications (all P < 0.05). Delayed diagnosis was strikingly correlated with seeking ophthalmic medical care twice or more prior to diagnosis (adjusted OR = 5.42, 95%CI: 1.40-21.06, P = 0.015) and accurate knowledge of ocular discomfort symptoms in coGVHD (adjusted OR = 0.29, 95%CI: 0.08-1.00, P = 0.050). CONCLUSIONS: Delayed diagnosis of coGVHD, associated with disease severity, was common among alloHCT recipients in southern China. Improving patient education and the awareness of ophthalmologists may facilitate early diagnosis of coGVHD.