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

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

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

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

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

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

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

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

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

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

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.

Stroke Risk After Emergency Department Treat-and-Release Visit for a Fall.

BACKGROUND: Previous cohort studies of hospitalized patients with a delayed diagnosis of ischemic stroke found that these patients often had an initial emergency department (ED) diagnosis of a fall. We sought to evaluate whether ED visits for a fall resulting in discharge to home (ie, treat-and-release visits) were associated with increased short-term ischemic stroke risk. METHODS: A case-crossover design was used to compare ED visits for falls during case periods (0-15, 16-30, 31-90, and 91-180 days before stroke) and control periods (equivalent time periods exactly 1 year before stroke) using administrative data from the Healthcare Cost and Utilization Project on all hospital admissions and ED visits across 10 states from 2016 to 2020. To identify ED treat-and-release visits for a fall and patients hospitalized for acute ischemic stroke, we used previously validated International Classification of Diseases, Tenth Revision, Clinical Modification codes. Odds ratios and 95% CIs were calculated using conditional logistic regression. RESULTS: Among 90 592 hospitalized patients with ischemic stroke, 5230 (5.8%) had an ED treat-and-release visit for a fall within 180 days before their stroke. Patients with an ED treat-and-release visit for a fall were older (mean age, 74.7 [SD, 14.6] versus 70.8 [SD, 15.1] years), more often female (61.9% versus 53.4%), and had higher rates of vascular comorbidities than other patients with stroke. ED treat-and-release visits for a fall were significantly more common in the 15 days before stroke compared with the 15-day control period 1 year earlier (odds ratio, 2.7 [95% CI, 2.4-3.1]). The association between stroke and a preceding ED treat-and-release visit for a fall decreased in magnitude with increasing temporal distance from stroke. CONCLUSIONS: ED treat-and-release visits for a fall are associated with significantly increased short-term ischemic stroke risk. These visits may be opportunities to improve stroke diagnostic accuracy and treatment in the ED.

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

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

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

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

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.

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.

Case report: Rare variants in the MTRR gene, 66GG and 524TT cause hyperhomocysteinemia and folic acid deficiency linked to schizophrenia.

We present an adult patient with schizophrenia who was later found to have hyperhomocysteinemia, a condition that increases the risk of several diseases, due to a deficiency in folic acid. Although folic acid supplementation quickly normalized the hyperhomocysteinemia and folic acid levels, it did not significantly improve the overall mental and cognitive health. Genotype analysis was performed and the patient was found to have two pathogenic variants in the MTRR gene, 66GG and 524TT, which encodes for methionine synthase reductase (MSR), an enzyme crucial for homocysteine metabolism. The results can shed light on the reasons behind the patient's hyperhomocysteinemia and folic acid deficiency. Hyperhomocysteinemia confers an increased risk of several diseases. Indeed, the patient has neurodevelopment and cardiovascular health problems for decades. Given the rarity of the condition and the nonspecific nature of the symptoms, the detection of hyperhomocysteinemia or MSR deficiency can often be delayed or overlooked. Considering the potential irreversible and detrimental consequences of prolonged hyperhomocysteinemia and folic acid deficiency that our patient is likely experiencing, we suggest that clinicians be vigilant for associated signs when they encounter adolescents exhibiting psychotic symptoms, especially those with additional physical symptoms and a history of resistance to treatment.

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.

Scrub typhus with hemorrhagic stroke: a case report.

BACKGROUND: Scrub typhus, caused by Orientia tsutsugamushi, rarely leads to central nervous system involvement. Although intracerebral bleeding is rare due to endemicity and a significant proportion of underdiagnoses, it should be considered a noteworthy differential diagnosis in endemic regions in patients with relevant history and clinical findings. CASE PRESENTATION: We present the case of a 40-year-old Nepali woman who visited the emergency department with complaints of left-sided weakness for 6 hours and an acute febrile illness with an eschar for 7 days and was diagnosed with scrub typhus by immunoglobulin M enzyme-linked immunosorbent assay of the serum. Imaging revealed a right-sided frontotemporal hematoma, and further examination revealed pulmonary edema with multiple organ dysfunction syndrome. The patient was mechanically ventilated and was treated with antibiotics, steroids, vasopressors, and antipyretics. However, the hematoma was treated conservatively, with ongoing neurological recovery at the 6-month follow-up. CONCLUSION: Although neurological complications and intracranial hemorrhage are uncommon, physicians must be cautious when making differential diagnoses and initiating appropriate therapies to avoid serious or fatal complications.

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.

Delayed traumatic intracranial aneurysms: literature review and case series.

Traumatic intracranial aneurysm (TICA) is a rare and aggressive pathology that requires prompt treatment. Nevertheless, early vascular imaging following head trauma may yield falsely negative results, underscoring the importance of subsequent imaging within the first week to detect delayed TICAs. This study aims to report our experience with delayed TICAs and highlight the clinical importance of repeated angiographic screening for delayed TICAs. In this retrospective analysis, we evaluated patients managed for a TICA at a tertiary care teaching institution over the last decade. Additionally, we conducted a systematic review of the literature, following the PRISMA guidelines, on previously reported TICAs, focusing on the time lag between the injury and diagnosis. Twelve delayed TICAs were diagnosed in 9 patients. The median time interval from injury to diagnosis was 2 days (IQR: 1-22 days), and from diagnosis to treatment was 2 days (IQR: 0-9 days). The average duration of radiological follow-up was 28 ± 38 months. At the final follow-up, four patients exhibited favorable neurological outcomes, while the remainder had adverse outcomes. The mortality rate was 22%. Literature reviews identified 112 patients with 114 TICAs, showcasing a median diagnostic delay post-injury of 15 days (IQR: 6-44 days), with 73% diagnosed beyond the first week post-injury. The median time until aneurysm rupture was 9 days (IQR: 3-24 days). Our findings demonstrate acceptable outcomes following TICA treatment and highlight the vital role of repeated vascular imaging after an initial negative computed tomography or digital subtraction angiography in excluding delayed TICAs.

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

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

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

A Diagnosis of Turner Syndrome in the Eighth Decade of Life.

Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with primary amenorrhea or infertility and often has a typical phenotype, with associated medical conditions that require lifelong surveillance. We report the case of a 76-year-old female with a history of osteoporosis and vertebral fractures who presented to our specialist osteoporosis clinic following a neck of femur fracture. She revealed a history of short stature and primary amenorrhea as a young woman, with limited investigation and treatment. Her other medical history included coeliac disease, hypertension, and hearing and vision abnormalities. Given her phenotype, the patient was referred for a karyotype at age 76, which was consistent with mosaic TS (45, X in 78% of cells and 46, X, r(Y) in the remaining cells). We review reports of other cases of marked delay in TS diagnosis and discuss the consequences of a late diagnosis.

Delayed diagnosis of new onset pediatric diabetes leading to diabetic ketoacidosis: a retrospective cohort study.

OBJECTIVES: Patients with a delayed diagnosis of diabetes are more likely to present in diabetic ketoacidosis (DKA). The objective of this study was to assess the prevalence, risk factors, and consequences of missed pediatric diabetes diagnoses in emergency departments (EDs) potentially leading to DKA. METHODS: Cases of children under 19 years old with a first-time diagnosis of diabetes mellitus presenting to EDs in DKA were drawn from the Healthcare Cost and Utilization Project database. A total of 11,716 cases were included. A delayed diagnosis of diabetes leading to DKA was defined by an ED discharge in the 14 days prior to the DKA diagnosis. The delayed diagnosis cases were analyzed using multivariate analysis to identify risk factors associated with delay, with the primary exposure being child opportunity index (COI) and secondary exposure being race/ethnicity. Rates of complications were compared across groups. RESULTS: Delayed diagnosis of new onset diabetes leading to DKA occurred in 2.9 %. Delayed diagnosis was associated with COI, with 4.5 , 3.5, 1.9, and 1.5 % occurring by increasing COI quartile (p<0.001). Delays were also associated with younger age and non-Hispanic Black race. Patients with a delayed diagnosis were more likely to experience complications (4.4 vs. 2.2 %, p=0.01) including mechanical ventilation, as well as more frequent intensive care unit admissions and longer length of stays. CONCLUSIONS: Among children with new-onset DKA, 2.9 % had a delayed diagnosis. Delays were associated with complications. Children living in areas with lower child opportunity and non-Hispanic Black children were at higher risk of delays.

Characterizing Inequities in Pediatric Appendicitis Delayed Diagnosis and Perforation.

Objective: We sought to characterize the impact of a child's sociodemographic characteristics on their odds of delayed diagnosis and perforation in pediatric appendicitis. Study design: We performed a single-center, retrospective cohort study of all pediatric appendicitis admissions between 2016 and 2021. Using a multivariable model, we evaluated for associations between delayed diagnosis and perforation and a child's sociodemographic characteristics, including their age, sex, race and ethnicity, insurance status, and their home census-tract Material Community Deprivation Index value. Results: The study included 3248 patients. The median age was 12.1 years (IQR 9.5-14.9 years). Most patients were male (60.3%), identified as non-Hispanic White (78.0%), and had private insurance (55.4%). The delayed diagnosis and perforation rates were 6.4% and 25.1%, respectively. Delayed diagnosis cases had a greater perforation rate (56% compared with 21.5%, P < .001). On adjusted analysis, older age decreased the odds (OR 0.91, CI 0.87-0.94) of delayed diagnosis, whereas female sex (OR 1.50, CI 1.13-2.00) and socioeconomic disadvantage (OR 1.56 for quartile 4 vs quartile 1, CI 1.00-2.43) increased the odds. Furthermore, older age (OR 0.91, CI 0.89-0.93) decreased the odds of perforation, whereas non-Hispanic Black (OR 1.72, CI 1.3-2.29) or Hispanic (OR 1.60, CI 1.24-2.08) compared with non-Hispanic White identification and socioeconomic disadvantage (OR 1.43 Q4 vs Q1, CI 1.12-1.83) increased the odds. Conclusions: Our reported delayed diagnosis rate is greater than recent literature, highlighting the need to consider visits that occur across different health care settings. We further identify sociodemographic factors, including socioeconomic status, that impact a child's risk of delayed diagnosis and perforation.