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Background: Hair thread tourniquet syndrome occurs when tissue is strangulated by a hair thread. It occurs most commonly in the digits of infants and young children, but can also occur in the genitalia., Case Report: A 13-year-old postmenarchal girl with several days of severe vulvar pain and swelling presented to the emergency department. Diagnosis was unclear and she was referred to pediatric and adolescent gynecology. Pelvic examination under anesthesia revealed a hair thread tourniquet involving the bilateral labia minora. The hair tourniquet and portions of bilateral labia minora were excised. Why Should an Emergency Physician Be Aware of This? Genital hair thread tourniquet syndrome is uncommon but must be considered in patients with severe genital pain and swelling. Prompt diagnosis and treatment are important to prevent tissue necrosis and may be facilitated by means of a pelvic examination with sedation., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Importance: Delayed diagnosis of a dislocated hip in infants can lead to complex childhood surgery, interruption to family life, and premature osteoarthritis., Objective: To evaluate the diagnostic accuracy of clinical examination in identifying dislocated hips in infants., Data Sources: Systematic search of CINAHL, Embase, MEDLINE, and the Cochrane Library from the inception of each database until October 31, 2023., Study Selection: The 9 included studies reported the diagnostic accuracy of the clinical examination (index test) in infants aged 3 months or younger and a diagnostic hip ultrasound (reference test). The Graf method of ultrasound assessment was used to classify hip abnormalities., Data Extraction and Synthesis: The Rational Clinical Examination scale was used to assign levels of evidence and the Quality Assessment of Diagnostic Accuracy Studies tool was used to assess bias. Data were extracted using the individual hip as the unit of analysis; the data were pooled when the clinical examinations were evaluated by 3 or more of the included studies., Main Outcomes and Measures: Sensitivity, specificity, and likelihood ratios (LRs) of identifying a dislocated hip were calculated., Results: Among infants screened with a clinical examination and a diagnostic ultrasound in 5 studies, the prevalence of a dislocated hip (n = 37 859 hips) was 0.94% (95% CI, 0.28%-2.0%). There were 8 studies (n = 44 827 hips) that evaluated use of the Barlow maneuver and the Ortolani maneuver (dislocate and relocate an unstable hip); the maneuvers had a sensitivity of 46% (95% CI, 26%-67%), a specificity of 99.1% (95% CI, 97.9%-99.6%), a positive LR of 52 (95% CI, 21-127), and a negative LR of 0.55 (95% CI, 0.37-0.82). There were 3 studies (n = 22 472 hips) that evaluated limited hip abduction and had a sensitivity of 13% (95% CI, 3.3%-37%), a specificity of 97% (95% CI, 87%-99%), a positive LR of 3.6 (95% CI, 0.72-18), and a negative LR of 0.91 (95% CI, 0.76-1.1). One study (n = 13 096 hips) evaluated a clicking sound and had a sensitivity of 13% (95% CI, 6.4%-21%), a specificity of 92% (95% CI, 92%-93%), a positive LR of 1.6 (95% CI, 0.91-2.8), and a negative LR of 0.95 (95% CI, 0.88-1.0)., Conclusions and Relevance: In studies in which all infant hips were screened for developmental dysplasia of the hip, the prevalence of a dislocated hip was 0.94%. A positive LR for the Barlow and Ortolani maneuvers was the finding most associated with an increased likelihood of a dislocated hip. Limited hip abduction or a clicking sound had no clear diagnostic utility.

Despite the rising prevalence and incidence of eosinophilic esophagitis (EoE), the etiology and pathophysiology remain unknown. Studies to date suggest that complex interactions between genetic and environmental risk factors result in the development and presentation of disease. Examining environmental factors both in the early life and later life exposures offers potential clues for the development of EoE, although challenges exist in making causal inferences due to diagnostic delay and access, ascertainment biases, and misclassification of cases. The authors review studies supporting early life factors as etiologic factors in the development of EoE., Competing Interests: Disclosure Study concept and design: J.W. Chang and E.T. Jensen. Drafting of the article: J.W. Chang and E.T. Jensen. Critical revision of the article: J.W. Chang and E.T. Jensen. This work was supported by funding in part by NIH, United States awards K23DK129784 (J.W. Chang), R01AI139126 (E.T. Jensen), and R01ES031940 (E.T. Jensen)., (Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.)

Objective: Catatonia is a distinct and severe medical syndrome comprising motor, somatic, and psychiatric symptoms that is reported in upwards of 17% of young patients with autism spectrum disorders. Clinical experience indicates catatonia is often under-recognized in this clinical population. Here we characterize the clinical presentation of catatonia in patients with and without neurodevelopmental disorders (NDDs) including autism, including the time from symptom onset to diagnosis of catatonia., Method: Retrospective chart review of electronic medical records at a large, academic pediatric medical center identified 113 pediatric and young adult patients with a charted history of catatonia, as identified by an encounter diagnosis or problem list entry between September 2017 and September 2021. Workup, treatments, and diagnoses (psychiatric, neurodevelopmental, and genetic) were identified., Results: We observed a clear and substantial delay in identification of catatonia in those with NDDs (diagnosis after 330 days for those without psychosis) compared with neurotypical patients (∼16 days). Psychiatry involvement was associated with shorter delays., Conclusion: Intellectual disability and autism are risk factors for significantly delayed diagnosis of catatonia. It is unknown whether delayed diagnosis contributes to the difficulty in treating catatonia in this patient population or whether the treatment difficulties relate instead to differential and ongoing biological mechanisms and underlying encephalopathy. Overall, these findings highlight the importance of increased recognition of catatonia symptoms in patients with NDDs and suggest early referral to psychiatric specialists may shorten the delay to diagnosis., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Primary aldosteronism (PA) is a common but underdiagnosed cause of hypertension. Many patients experience preventable end-organ injury due to delayed or missed diagnosis but data on the experience of patients are limited., Methods: We evaluated the lived experience of PA and determines factors associated with diagnostic delay through an international anonymous online cross-sectional survey, codesigned by researchers and PA consumers. We distributed the survey through academic medical centers, Amazon Mechanical Turk, Twitter, PA patient advocacy groups, and hypertension support groups on Facebook between March 21 and June 5, 2022., Results: Of 684 eligible respondents, 66.5% were women. Diagnostic delay (defined as ≥5 years between the diagnosis of hypertension and PA) was reported in 35.6%. Delay was more likely in women than in men (odds ratio, 1.55 [95% CI, 1.10-2.20]) and respondents with ≥3 comorbidities versus none (odds ratio, 1.77 [95% CI, 1.05-3.02]), ≥10 symptoms versus none (odds ratio, 2.73 [95% CI, 1.74-4.44]), and on ≥4 antihypertensive medications versus none (odds ratio, 18.23 [95% CI, 6.24-77.72]). Three-quarters of patients (74.4%) experienced reduced symptom burden following targeted PA treatment. Quality of life improved in 62.3% of patients, and greater improvement was associated with being a woman (odds ratio, 1.42, [95% CI, 1.02-1.97]), receiving adrenalectomy (odds ratio, 2.36 [95% CI, 1.67-3.35]), and taking fewer antihypertensive medications following diagnosis (odds ratio, 5.28 [95% CI, 3.55-7.90])., Conclusions: One-third of patients with PA experienced prolonged diagnostic delays. Targeted treatment led to reduced symptom burden and improved quality of life. Gender differences in diagnostic delay and symptom burden are prominent. These findings suggest that routine screening for PA at the onset of hypertension may reduce diagnostic delay and facilitate timely diagnosis., Competing Interests: Disclosures None.

Objectives: To examine the prevalence of extra-musculoskeletal manifestations (EMM) and the association between diagnostic delay and their incidence in AS and PsA., Methods: This was a retrospective, cohort study comprising two single centre cohorts in Europe and one multicentre cohort in Latin America (RESPONDIA). Crude prevalence of EMMs (uveitis, IBD and psoriasis) was calculated across geographic area and adjusted by direct standardization. Cox proportional hazard analysis was performed to assess the association between diagnostic delay and EMM incidence., Results: Of 3553 patients, 2097 had AS and 1456 had PsA. The overall prevalence of uveitis was 22.9% (95% CI: 21.1, 24.8) in AS and 3.8% (95% CI: 2.9, 5.0) in PsA; 8.1% (95% CI: 7.0, 9.4) and 2.1% (1.3, 2.9), respectively, for IBD; and 11.0% (95% CI: 9.7, 12.4) and 94.6% (93.0, 95.9), respectively, for psoriasis. The EMM often presented before the arthritis (uveitis 45.1% and 33.3%, and IBD 37.4% and 70%, in AS and PsA, respectively). In the multivariable model, longer diagnostic delay (≥5 years) associated with more uveitis (hazard ratio [HR] 4.01; 95% CI: 3.23, 4.07) and IBD events (HR 1.85; 95% CI: 1.28, 2.67) in AS. Diagnostic delay was not significantly associated with uveitis (HR 1.57; 95% CI: 0.69, 3.59) or IBD events (HR 1.59; 95% CI: 0.39, 6.37) in PsA., Conclusion: EMMs are more prevalent in AS than PsA and often present before the onset of the articular disease. A longer diagnostic delay is associated with the 'de novo' appearance of uveitis and IBD in AS, highlighting the need to enhance diagnostic strategies to shorten the time from first symptom to diagnosis in SpA., (© The Author(s) 2023. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

Introduction: Inborn errors of immunity (IEIs) are inherited disorders that present with increased susceptibility to infections as well as noninfectious complications. Due to the aberrant immune functions of patients with IEI, autoimmune cytopenia (AIC) may be the initial finding, which makes diagnosis a challenge. We aimed to evaluate the clinical course, laboratory findings, and treatment response of AIC in children with IEI., Methods: Data of children with autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP) were obtained from a retrospective chart review of IEI patients diagnosed and followed in our center. Demographic and clinical features and therapeutic outcomes were evaluated. Immunologic findings were compared between patients with AIHA, ITP, and Evans syndrome (ES). The patients were also divided into two subgroups based on the presence or absence of immune dysregulation diseases (IDDs), and all data were compared between these two groups., Results: Out of 562 patients with IEI, 6% (n: 34) had AIC which were ITP (23.5%), AIHA (35.5%), and ES (41.2%). AIC was the initial finding in 50% of these 34 patients. Patients with ES had a higher mean percentage of CD8+ T lymphocytes than ITP patients (40.77 ± 20.21% vs. 22.33 ± 12.48%, p = 0.011). Patients with IDDs were more likely to develop ES (p = 0.004), lymphoproliferation (p = 0.005), and resistance to first-line therapy (p = 0.021) than other IEI groups., Conclusion: This study shows that AIC may be the initial finding of IEI, particularly when lymphoproliferation and resistance to first-line therapy co-occur. Therefore, detailed investigation should be offered to all patients to avoid diagnostic delay., (© 2023 S. Karger AG, Basel.)

Background: Lipedema is a chronic disease marked by symmetric enlargement of painful nodular and fibrotic adipose tissue, predominantly affecting the limbs. Since there is no specific test or biomarker for this condition, years often pass before the diagnosis of lipedema is established for the first time, thereby causing psychosocial distress, including depression, eating disorders, and social isolation. Over the last few years several advanced Doppler-based technologies have been developed to visualize slow flow blood vessels and superficial microvascular architecture undetectable by traditional color Doppler flow imaging (CDFI)., Objective: The aim of this study was to evaluate the superficial microvascular anatomy in lipedema patients compared to healthy controls and investigate the clinical significance of the Ultra Micro Angiography (UMA) technology in the diagnosis of lipedema. This new technique may contribute to reduce the diagnostic delay and, eventually, establish and guide treatment strategies toward a better therapeutic outcome in lipedema patients., Methods: 25 patients with lipedema and ten healthy controls with no history of lipedema were included in this study. All ultrasound examinations were performed on a novel high-performance ultrasound system (Resona R9/Mindray) using CDFI and the UMA technique., Results: In all of the patients, Ultra Micro Angiography achieved the excellent visualization of microvascular structures, revealing that most lipedema patients showed grade 3 (n = 13) or grade 2 (n = 8) flow. UMA was superior to CDFI for depicting the microvascular structures., Conclusions: Here we show that UMA imaging characterizes the subcutaneous microvasculature with an unprecedented accuracy. The method has the advantage of being sensitive to small, slow-flowing vessels. This allows for the assessment of the course of vessels and vascular pathologies in great detail. Thus, UMA as a non-invasive diagnostic method can improve diagnostic accuracy in lipedema.

Background: Acquired angioedema with C1-inhibitor deficiency (AAE-C1-INH) is a rare condition resembling hereditary angioedema (HAE), but with late onset and low C1-inhibitor (C1-INH) due to consumption potentially caused by autoimmune diseases and mainly lymphatic malignancies. Being about 10-fold rarer than HAE, there is limited knowledge and no licensed therapy., Objective: To report clinical and biological data from a newly described population of 20 patients with AAE-C1-INH assessing diagnostic delay, AAE-C1-INH:HAE-ratio, underlying conditions, and therapeutic management in Germany., Methods: Retrospective data analysis of 20 patients from 2 angioedema centers in southern Germany., Results: Median age at symptoms' onset was 64 years (60% females), with predominant swellings of the face (85%) and low levels for C1-INH in almost all patients. The ratio AAE-C1-INH:HAE was 1:9.7. From symptoms' onset to diagnosis of AAE-C1-INH, the median delay was 7.5 months, and between AAE-C1-INH symptoms' onset and diagnosis of the underlying hematological condition (n = 9) it was 4 months (median). Four patients had a history of solid neoplasm, 1 had a papillary thyroid carcinoma as the only potential cause for AAE-C1-INH, with treatment of the malignancy resulting in resolution of AAE-C1-INH. All the symptomatic patients were treated with off-label on-demand icatibant subcutaneously or C1-INH concentrate intravenously, and 6 severely affected patients needed off-label long-term prophylaxis with good symptom control., Conclusions: AAE-C1-INH is characterized by late-onset swellings mainly involving the face and low C1-INH levels. Diagnostic delay for AAE-C1-INH is further decreasing despite being about 10-fold rarer than HAE. Patients severely affected without underlying condition or no indication for treatment could benefit from off-label therapy., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Tumor-induced osteomalacia (TIO) is an ultra-rare disease caused mostly by benign tumors that secrete fibroblast growth factor-23. Because of nonspecific symptoms, the diagnostic delay is long, and therapy can be challenging. Moreover, epidemiological data on TIO are scarce owing to its rarity. Therefore, this study aimed to quantify TIO's incidence rates and prevalence in Germany. Retrospective longitudinal and cross-sectional analyses were conducted using anonymized German claims data from the statutory health insurance (SHI) database. This database, which comprises the data of approximately 5 million insurants, is a representative sample of the German population and supports national projections. As there is no unique International Statistical Classification of Diseases and Related Health Problems (ICD) code for TIO, operational categories based on different surrogates were defined to determine the prevalence and incidence rates of TIO among probable patients. This study showed that TIO has a prevalence of (documented code, advanced imaging, medication, or tumor removal) 0.187 per 100,000 persons and an incidence rate of ≤ 0.094 per 100,000 person years. This analysis provides the first epidemiological insight into German patients with TIO. Despite the general limitations associated with the analysis of SHI claims data of ultra-rare diseases, we believe that this analysis provides a sound basis for further analysis, particularly with regard to the care situation of patients with TIO., (© 2023. The Author(s).)

The 1 st line treatment of Cushing's syndrome is surgery, whatever the aetiology. The role of pharmacological treatment is clear in cases where surgery fails or is impossible, in cases of metastases, or while awaiting the delayed effects of radiotherapy. However, certain situations remain controversial, in particular the possible role of pharmacological treatment as a preparation for surgery. This situation must be divided into 2 parts, severe hypercortisolism with immediate vital risk and non-severe hypercortisolism with diagnostic delay. The initiation and adjustment of treatment doses is also controversial, with the possibility of titration by gradual dose increase based on biological markers, or a more radical "block and replace" approach in which the ultimate goal is to achieve hypocortisolism, which can then be supplemented. Each of these approaches has its advantages and drawbacks and should probably be reserved for different patient profiles depending on the severity of hypercortisolism. In this review, we will focus specifically on these 2 points, namely the potential role of preoperative pharmacological treatment and, more generally, the optimal way to initiate and monitor drug treatment to ensure that eucortisolism or hypocortisolism is achieved. We will define for each part which profiles of patients should be the most adapted to try to give advice on the optimal management of patients with hypercortisolism., Competing Interests: Conflicts of Interest The author received research grants and was involved in research boards with HRA Pharma rare diseases and Recordati rare diseases., (Copyright © 2023 Instituto Mexicano del Seguro Social (IMSS). Published by Elsevier Inc. All rights reserved.)

This case report explores clinical treatment efficacy in a Cantonese-speaking child with 22q11.2 Deletion Syndrome where diagnosis and management of velopharyngeal dysfunction can be considered late. All treatment sessions were undertaken via telepractice during the peak of the COVID-19 pandemic in Hong Kong. A hybrid of specialized cleft palate speech treatment techniques and traditional treatment approaches in Speech Sound Disorders were utilized. Treatment intensity components including dose, dose form, session duration, and total intervention duration were documented., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Aortic coarctation is characterized by a segmental narrowing of the aortic lumen, usually diagnosed and treated in the neonatal period or early childhood, but can remain undiagnosed until adulthood. It manifests as a broad spectrum of signs and symptoms, ranging from mild to severe, of which arterial hypertension is one of the most common. In this article, the authors describe the clinical case of a 9-year-old child under investigation in the Pediatric Department for secondary causes of arterial hypertension. A renal Doppler ultrasound study revealed the presence of bilateral parvus et tardus waveform morphology in renal and intrarenal arteries and the proximal abdominal aorta. These findings were suspicious for diagnosing aortic coarctation, which thoracic CTangio confirmed.

Background: Intracranial dural arterio-venous fistulas are pathological anastomoses between arteries and veins located within dural sheets and whose clinical manifestations depend on location and hemodynamic features. They can sometimes display perimedullary venous drainage (Cognard type V fistulas-CVFs) and present as a progressive myelopathy. Our review aims at describing CVFs' variety of clinical presentation, investigating a possible association between diagnostic delay and outcome and assessing whether there is a correlation between clinical and/or radiological signs and clinical outcomes., Methods: We conducted a systematic search on Pubmed, looking for articles describing patients with CVFs complicated with myelopathy., Results: A total of 72 articles for an overall of 100 patients were selected. The mean age was 56.20 ± 14.07, 72% of patients were man, and 58% received an initial misdiagnosis. CVFs showed a progressive onset in 65% of cases, beginning with motor symptoms in 79% of cases. As for the MRI, 81% presented spinal flow voids. The median time from symptoms' onset to diagnosis was 5 months with longer delays for patients experiencing worse outcomes. Finally, 67.1% of patients showed poor outcomes while the remaining 32.9% obtained a partial-to-full recovery., Conclusions: We confirmed CVFs' broad clinical spectrum of presentation and found that the outcome is not associated with the severity of the clinical picture at onset, but it has a negative correlation with the length of diagnostic delay. We furthermore underlined the importance of cervico-dorsal perimedullary T1/T2 flow voids as a reliable MRI parameter to orient the diagnosis and distinguish CVFs from most of their mimics., (© 2023. The Author(s).)

Introduction: Stroke presenting with a reduced level of consciousness (RLOC) may result in diagnostic error and/or delay. Missed or delayed diagnosis of acute ischaemic stroke may preclude otherwise applicable hyperacute stroke interventions. The frequency, reasons for, and consequences of diagnostic error and delay due to RLOC are uncertain., Method: The databases PubMed, EMBASE, and Cochrane library were searched in adherence with the PRISMA guidelines. The systematic review was prospectively registered on PROSPERO., Results: Initial searches returned 1162 results, of which 6 fulfilled inclusion criteria. The majority of identified studies show that ischaemic stroke presenting with RLOC is at increased risk of missed or delayed diagnosis. Hyperacute stroke interventions may also be delayed. There is limited evidence regarding the reason for these delays; however, the delays may result from neuroimaging delay associated with diagnostic uncertainty. There is also limited evidence regarding the outcomes of patients with stroke and RLOC who experience diagnostic delay; however, the available literature suggests that outcomes may be poor, including motor and cognitive impairment, as well as long-term impaired consciousness. The included studies did not evaluate, but have suggested urgent MRI access, educational interventions, and protocolisation of the evaluation of RLOC as means to reduce poor outcomes., Conclusions: Ischaemic stroke patients with RLOC are at risk of diagnostic delay and error. These patients may have poor outcomes. Additional research is required to identify the contributing factors more clearly and to provide amelioration strategies., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: In the North Denmark Region an increased awareness of eosinophilic esophagitis (EoE) was observed after 2011 where a regional biopsy guideline was implemented. This resulted in an increased awareness of EoE and a 50-fold increase in the incidence of EoE patients between 2007-2017., Aims: The aims of this study were to examine the progress in diagnostic delay, complications, PPI treatment, and follow up since 2017 in Danish patients with eosinophilic esophagitis., Materials and Methods: This was a retrospective registry- and population-based cohort study (DanEoE2 cohort) including 346 adult patients with esophageal eosinophilia diagnosed between 2018-2021 in the North Denmark Region. The DanEoE2 cohort included all possible EoE patients by using the Danish Patho-histology registry based on the SNOMED-system. The data was analyzed and compared to the DanEoE cohort (2007-2017)., Results: The diagnostic delay of EoE patients diagnosed between 2018-2021 in the North Denmark Region had decreased with a median of 1.5 years (5.5 (2.0;12) years versus 4.0 (1.0;12) years, p=0.03). Strictures before diagnosis had decreased 8.4 % (11.6% versus 3.2%, p=0.003). The number of patients started on high-dose PPI increased (56% versus 88%, p<0.001). An intensified awareness regarding national guidelines and follow-up was observed as an increase in the number of histological follow up (67% versus 74%, p=0.05)., Conclusions: Comparisons of the DanEoE cohorts showed a decrease in diagnostic delay, a decrease in stricture formation before diagnosis, and an improved guideline adherence after 2017. Future studies are needed to assess if symptomatic or histological remission on PPI treatment is more capable of predicting a patient's risk of developing complications., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Introduction: Spontaneous cerebrospinal fluid (CSF) leak into the temporal air spaces is a prominent risk factor for meningitis, often leading to debilitating neurological morbidities and even death. CSF leaks may arise due to trauma, congenital malformation, or surgery, but in most cases, they develop spontaneously. In spontaneous CSF leaks, no obvious triggering event is apparent in the patient's clinical history that points to this diagnosis, in contrast to some of the other etiologies. The clinical presentation of spontaneous CSF leaks is not unique and is characterized by patients' complaints, such as hearing loss and aural fullness. These symptoms are commonly associated with prevalent conditions, such as serous otitis media. For these reasons, a typical diagnostic delay of spontaneous CSF leaks, which can last for years in some cases, leaves the patients exposed to meningeal infection without being offered an efficient surgical treatment to keep them safe and protected.

Background and Aim: Idiopathic myointimal hyperplasia of the mesenteric veins (IMHMV) is an uncommon cause of colonic ischemia for which surgical treatment is typically curative. We describe clinical, radiologic, and endoscopic findings in IMHMV patients to provide clinicians with a framework for pre-surgical identification of this rare disease., Methods: We performed a systematic review of seven databases for IMHMV cases and identified additional cases from Yale New Haven Hospital records. To identify features specifically associated with colonic ischemia due to IMHMV, we performed multivariate logistic regression analysis incorporating data from a large cohort of patients with biopsy-proven ischemic colitis., Results: A total of 124 patients with IMHMV were identified (80% male, mean age 53 years, 56% Caucasian). Presenting symptoms were most commonly abdominal pain (86%) and diarrhea (68%). The most affected areas were the sigmoid colon (91%) and rectum (61%). Complications associated with diagnostic delay occurred in 29% of patients. Radiologic vascular abnormalities including non-opacification of the inferior mesenteric vein were observed in 35% of patients. Of the patients, 97% underwent curative surgical resection. Compared with non-IMHMV colonic ischemia, IMHMV was significantly associated with younger age, male sex, absence of rectal bleeding on presentation, rectal involvement, and mucosal ulcerations on endoscopy., Conclusion: IMHMV is a rare, underreported cause of colonic ischemia that predominantly involves the rectosigmoid. Our findings suggest younger age, rectal involvement, and absence of rectal bleeding as clinical features to help identify select patients presenting with colonic ischemia as having higher likelihood of IMHMV and therefore consideration of upfront surgical management., (© 2023 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)

Background: Vertigo and dizziness in children can be multi-factorial. Vestibular function tests allow an improved differential diagnosis and treatment. Delay in diagnosis of the diverse etiologies causing dizziness can adversely affect the health of children and is a matter of concern for their families. This study analyzes the delay in diagnosis and the importance of establishing a diagnosis with detailed history and neuro-otological evaluation., Methods: A total of 241 children presenting with vertigo to a tertiary otoneurology clinic between January 2019 and April 2022 were analyzed for the duration between the onset of symptoms and diagnosis, presenting complaints, and characteristic findings., Results: Two hundred and forty-one patients with a mean age of 12.5 ± 3.02 years (range, 5-16 years) were evaluated. About 39.4% of patients were diagnosed after over a year (with some over 5 years) of suffering from vertigo and only 18.7% of patients were diagnosed correctly within 1 month of symptom onset. The presenting features were variable with 174 (72.2%) complaining of spinning, unsteadiness, and falls seen in 36+10+37 (34.4%). Vestibular migraine was the most common diagnosis (63.39%), followed by benign paroxysmal positional vertigo (24.48%), of which the posterior canal was most affected (50.85%) followed by horizontal (40.68%) and anterior canal (8.47%). Other etiologies noted were central (14.10%) and peripheral vestibulopathy (17.42%) and variable other causes (6.19%)., Conclusion: Many pediatric vertigo and dizziness patients do not reach the correct diagnosis for long durations and are treated as "unspecified dizziness." A detailed examination with a multidisciplinary approach including vestibular evaluation is advocated to give definitive treatment to these children.

Background: Delays before treatment initiation increase the likelihood of later-stage diagnosis of breast cancer and reduce survival. Among Chinese women living in mainland China, Hong Kong, and Taiwan, the amount of time lost in delay and the factors influencing it are unclear., Objective: This integrative review aimed to characterize delay intervals among Chinese women, identify factors contributing to delay, and develop a conceptual model of these factors., Methods: Using Whittemore and Knafl's methodology for integrative reviews, PubMed, CINAHL, Web of Science, SCOPUS, PsycINFO, and China National Knowledge Infrastructure were searched for primary research articles. For 15 selected studies, quality evaluation was performed employing the Crowe Critical Appraisal Tool. A narrative synthesis was developed to summarize and explain the findings., Results: Total delay intervals (from first discovery of breast symptoms to treatment initiation) exceeded 3 months for 50.2% to 52% of breast cancer patients. The greatest delay occurred between symptom discovery and first presentation (patient intervals). Factors affecting delay in presentation, diagnosis, and treatment included symptom appraisal, Chinese cultural factors, knowledge of breast cancer symptoms and screening, health history, personality, social and healthcare factors, and background factors., Conclusions: Half of Chinese breast cancer patients delayed long enough to lower their chances of survival. Our review sheds light on how the reviewed factors contribute to delay and their unique influences in this population., Implications for Practice: Factors identified can inform nursing interventions that raise breast cancer awareness and promote timely diagnosis and treatment in Chinese women., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Cryptosporidium is recognized as a significant pathogen of diarrhea disease in immunocompromised hosts, and studies have shown that Cryptosporidium infection is high in solid organ transplantation (SOT) patients and often has serious consequences. Because of the lack of specificity of diarrheasymptoms cased by Cryptosporidium infection, it is rarely reported in patients undergoing liver transplantation (LT). It frequently delays diagnosis, coming with severe consequences. In clinical work, diagnosing Cryptosporidium infection in LT patients is also complex but single, and the corresponding anti-infective treatment regimen has not yet been standardized. A rare case of septic shock due to a delayed diagnosis of Cryptosporidium infection after LT and relevant literature are discussed in the passage., Case Presentation: A patient who had received LT for two years was admitted to the hospital with diarrhea more than 20 days after eating an unclean diet. After failing treatment at a local hospital, he was admitted to Intensive Care Unit after going into septic shock. The patient presented hypovolemia due to diarrhea, which progressed to septic shock. The patient's sepsis shock was controlled after receiving multiple antibiotic combinations and fluid resuscitation. However, the persistent diarrhea, as the culprit of the patient's electrolyte disturbance, hypovolemia, and malnutrition, was unsolved. The causative agent of diarrhea, Cryptosporidium infection, was identified by colonoscopy, faecal antacid staining, and blood high-throughput sequencing (NGS). The patient was treated by reducing immunosuppression and Nitazoxanide (NTZ), which proved effective in this case., Conclusion: When LT patients present with diarrhea, clinicians should consider the possibility of Cryptosporidium infection, in addition to screening for conventional pathogens. Tests such as colonoscopy, stool antacid staining and blood NGS sequencing can help diagnose and treat of Cryptosporidium infection early and avoid serious consequences of delayed diagnosis. In treating Cryptosporidium infection in LT patients, the focus should be on the patient's immunosuppressive therapy, striking a balance between anti-immunorejection and anti-infection should be sought. Based on practical experience, NTZ therapy in combination with controlled CD4 + T cells at 100-300/mm 3 was highly effective against Cryptosporidium without inducing immunorejection., (© 2023. The Author(s).)

Objective: To report population-based clinical presentation and outcomes in patients with urosymphyseal fistula (USF) after pelvic radiotherapy (RT)., Patients and Methods: A retrospective chart review was performed in 33 consecutive patients diagnosed with suspicion of USF in a tertial referral center from 2014-2022 to ascertain information about diagnostic delay, clinical presentation, precipitating causes, treatments received and outcomes during the median 22 months follow-up. Out of 33 consecutive patients with suspicion of USF, one female with vesicovaginal fistula, one patient developing RT-associated bladder angiosarcoma, four patients with short follow-up (<3 months), and three patients that during chart review not were considered to have a USF were excluded., Results: In all, 24 males with a median age of 77 years were diagnosed with USF. Local pain was the predominating symptom in 17/24 (71%) patients. Endourologic manipulations preceded the diagnosis of USF in 16 patients. Five patients had a diagnostic delay of more than 3 months. At diagnosis, 20/24 patients had radiological signs of osteomyelitis, and five had a concomitant rectourethral fistula. Due to comorbidity, five patients were not amenable to any other interventions than urinary catheter or suprapubic tube in conjunction with long-term antibiotics, of which three died from infections related to the USF. Out of the remaining 19 patients receiving some form of urinary diversion, five had recurrent osteomyelitis, of which four did not undergo cystectomy in conjunction with surgery for the USF., Conclusions: Urethral endourologic interventions in patients previously subjected to pelvic RT should be performed cautiously.

Infection remains a serious complication associated with the cardiac implantable electronic devices (CIEDs), leading to substantial clinical and economic burden globally. This review assesses the burden of cardiac implantable electronic device infection (CIED-I), evidence for treatment recommendations, barriers to early diagnosis and appropriate therapy, and potential solutions. Multiple clinical practice guidelines recommended complete system and lead removal for CIED-I when appropriate. CIED extraction for infection has been consistently reported with high success, low complication, and very low mortality rates. Complete and early extraction was associated with significantly better clinical and economic outcome compared with no or late extraction. However, significant gaps in knowledge and poor recommendation compliance have been reported. Barriers to optimal management may include diagnostic delay, knowledge gaps, and limited access to expertise. A multipronged approach, including education of all stakeholders, a CIED-I alert system, and improving access to experts, could help bring paradigm shift in the treatment of this serious condition., Competing Interests: Funding Support and Author Disclosures This work was supported by Philips Image Guided Therapy Corporation. Dr Lakkireddy is a consultant for Philips and Abbott; and has received honoraria from Abbott, Medtronic, Boston Scientific, and Biosense Webster. Dr Sood is an employee of Philips Image Guided Therapy Corporation. Dr Wu is an employee of EVERSANA which has received funding from Philips Image Guided Therapy Corporation. Dr Rao has received honoraria from Medtronic, Boston Scientific, and Philips for educational activity and consultancy. Dr Sohail is a consultant for Medtronic Inc, Philips, and Aziyo Biologics, Inc. Dr Pokorney receives modest consultant/advisory board support from Boston Scientific, Medtronic, Philips, Bristol Myers Squibb, Pfizer, Sanofi, and Zoll; and has received modest research support from the Food and Drug Administration, Bristol Myers Squibb, Pfizer, Janssen, Gilead, Philips, Sanofi, and Boston Scientific. Dr Blomström-Lundqvist is a consultant for Boston Scientific, Medtronic, Philips, Bristol Myers Squibb, and Cathprint. Dr Piccini is a consultant for Abbott, Biotronik, Boston Scientific, Medtronic, and Philips; has received grants for clinical research from Abbott, American Heart Association, Boston Scientific, and Philips; and is supported by R01AG074185 from the National Institutes of Aging. Dr Granger has clinical research contracts from Boehringer Ingelheim, CeleCor, Bayer, Bristol Myers Squibb, the U.S. Food and Drug Administration, National Institutes of Health, Pfizer, Janssen, and Phillips; has received consulting/honoraria from AbbVie, Bayer, Bristol Myers Squibb, Boston Scientific, Boehringer Ingelheim, Hengrui, Janssen, Pfizer, Lilly, Medtronic, Merck, Novartis, NovoNordisk, and Reata; and has equity from tenac.io. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background and Aim: The risk of second primary tumors is increased in general cancer population, however, there is no data on acromegalic cancer patients in this regard. The aim of this study is to determine the prevalence of patients with two primary tumors among acromegalic cancer patients and to evaluate if patients with two primaries have distinct clinical characteristics or risk factors compared to those with one., Methods: This is a single-center retrospective cohort study. The study included 63 patients with at least one malignant tumor out of a total number of 394 acromegaly patients. Patients with multiple primary neoplasms were evaluated in detail., Results: This study revealed a 16% cancer prevalence in acromegaly patients, with 14% (9/63) having two primary neoplasms. Papillary thyroid carcinoma was the most prevalent tumor in the entire cancer cohort (41%, 26/63), and in the group of patients with two primaries (44%, 4/9). Patients with two primary tumors were older than those with one when diagnosed with acromegaly (48.3 ± 16.6 vs. 43.3 ± 10.7 years), which might be attributed to a longer diagnostic delay (median of 4.5 vs. 2 years). The period between the onset of acromegaly symptoms and diagnosis was not associated with earlier cancer diagnosis. No relationship between circulating GH or IGF-I levels and the number of neoplasms was found., Conclusion: The development of second primary tumors in acromegalic patients with cancer diagnosis is not rare. Acromegalic cancer patients should be closely monitored for new symptoms or signs that could be associated with second primary tumors., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Paragonimiasis contributes to significant foodborne zoonosis worldwide. The major mode of transmission in humans is by consumption of uncooked or undercooked crabs and crayfish harbouring Paragonimus metacercariae. It begins with symptoms like fever and lower respiratory involvement from a few months to a year, mimicking those of tuberculosis and leading to diagnostic delay. Here, we report two cases of paragonimiasis during a period of nine months. Both cases presented with symptoms of productive cough with rusty sputum, chest pain, along with eosinophilia, and pleural effusion and had a history of consumption of smoked crab from the local river. The diagnosis was established by microscopic demonstration of Paragonimus ova in the sputum. They were treated with praziquantel and recovered. Indeed, it is challenging to diagnose paragonimiasis due to the lack of its specific symptoms but should be considered in the differential diagnosis of eosinophilia and pleural effusion in such lung diseases., Keywords: case reports; eosinophilia; paragonimiasis; pleural effusion.

Background: Lymphadenopathy refers to any disease process involving lymph nodes that are abnormal in size and consistency. There are multiple etiologies in the setting of a diseased lymph node, including conditions of infection, autoimmune diseases, and neoplasia. Lymphadenitis is a term that refers to lymphadenopathies that are due to inflammatory processes and can represent an acute bacterial infection resulting from streptococcal pharyngitis or a prior viral upper respiratory infection. Cervical lymphadenopathy refers to nodal swelling in the neck region. While cervical lymphadenitis is a common clinical finding in the setting of a transient response to a benign local or generalized infection, it may evade detection sometimes and thus account for a percentage of misdiagnosis or delayed diagnosis in the tropics. This case report is aimed at increasing the awareness about the presentation of bacterial cervical lymphadenitis and how it can sometimes mimic the presentation that is typical and regularly found with plasmodiasis. It contributes to improved awareness and high index of suspicion in clinic when dealing with patients in the tropics., Case Presentation: We present a case of delayed diagnosis of bacterial cervical lymphadenitis that initially presented with typical features of malaria from Plasmodium falciparum. A 26-year-old Nigerian woman presented to the outpatient department following complaints of a recurring fever of a month's duration and bilateral neck swelling of about 2 weeks prior to presentation., Conclusion: In the setting of a busy clinic, details are easily missed and salient features in the presentation of a patient that are needed for accurate diagnosis and management could go unrecognized. Hence, this case report highlights the importance of proper examination particularly of lymph nodes and use of different diagnostic modalities for the exact diagnosis of disease., (© 2023. The Author(s).)

A 24-year-old female presents with sudden debilitating right shoulder pain that started 5 days ago, with reduced range of motion (ROM) in shoulder abduction and a scapula alata. These findings are indicative of neuralgic amyotrophy (NA). NA usually has a diagnostic delay which complicates treatment. Long-term impact can be severe which sometimes justifies referral to a physiatrist.

Background: Gallstone ileus represents 4% of the causes of bowel obstruction in general population, but it increases to 25% in patients above 65 years of age. Gallstone ileus does not present with unique symptoms, making diagnosis difficult. It has a high mortality (12 to 27%) due to associated comorbidities and diagnostic delay. The aim of this case report is to communicate the importance of prompt diagnosis and surgical management of gallstone ileus., Clinical Case: It is presented the clinical case of a 67-year-old female patient with a history of long-standing diabetes mellitus without medical control, without previous surgical history, who began suffering 2 days prior to admission to the emergency room with signs and symptoms of intestinal occlusion. She was given medical management without improvement and diagnostic delay of mechanical intestinal occlusion that was surgically intervened 7 days after the onset of clinical symptoms, finding gallstone ileus in the exploratory laparotomy, with satisfactory resolution of the pathology despite the diagnostic delay., Conclusions: Gallstone ileus is a difficult clinical entity to diagnose and therefore requires a high index of suspicion. The aim of gallstone ileus treatment is to release the obstruction, which is done through enterolithotomy. It is the recommended technique for gallstone ileus management because of its lower morbidity and mortality, compared with the other techniques., (© 2023 Revista Médica del Instituto Mexicano del Seguro Social.)

Background: We aimed to investigate risk factors of LCOS following pericardiectomy., Methods: This was a retrospective study of patients undergoing pericardiectomy at three hospitals between January 1994 and May 2021., Results: A total of 826 patients were divided into two groups: group with LCOS (N = 126) and group without LCOS (N = 700). The incidence of postoperative LCOS was 15.3%. There were 66 operative deaths (8.0%). Univariable and multivariable analyses showed that factors are associated with LCOS, including postoperative LVEDD (P < 0.001), preoperative LVEDD (P < 0.001), time between symptoms and surgery (P < 0.001), thickness of pericardium (P < 0.001), intubation time (P = 0.002), hospitalized time postoperative (P < 0.001), preoperative central venous pressure (P = 0.016), postoperative central venous pressure (P = 0.034), D0 fluid balance (P = 0.019), D2 fluid balance (P = 0.017), postoperative chest drainage (P < 0.001), surgical duration (P < 0.001), bleeding during operation (P = 0.001), serum creatinine 24h after surgery (P < 0.001), serum creatinine 48h after surgery (P = 0.017), fresh-frozen plasma (P = 0.005), packed red cells (P = 0.006), and tuberculosis pericarditis (P = 0.026)., Conclusion: In our study, incomplete pericardial dissection, fluid overload, delayed diagnosis and treatment, and tuberculosis pericarditis are associated with LCOS following pericardiectomy.

Aims: To determine the incidence, clinical features, management, and outcomes of pacemaker (PM) and implantable cardioverter-defibrillator (ICD) lead cardiac perforation. Cardiac perforations due to PM and ICD leads are rare but serious complications. Clinical features vary widely and may cause diagnostic delay. Management strategies are non-guideline based due to paucity of data., Methods and Results: A multicentre retrospective series including 3 UK cardiac tertiary centres from 2016 to 2020. Patient, device, and lead characteristics were obtained including 6-month outcomes. Seventy cases of perforation were identified from 10 631 procedures; perforation rate was 0.50% for local implants. Thirty-nine (56%) patients were female, mean ( ± standard deviation) age 74 ( ± 13.8) years. Left ventricular ejection fraction 51 ( ± 13.2) %. Median time to diagnosis was 9 (range: 0-989) days. Computed tomography (CT) diagnosed perforation with 97% sensitivity. Lead parameter abnormalities were present in 86% (whole cohort) and 98.6% for perforations diagnosed >24 h. Chest pain was the commonest symptom, present in 46%. The management strategy was percutaneous in 98.6% with complete procedural success in 98.6%. Pericardial effusion with tamponade was present in 17% and was associated with significantly increased mortality and major complications. Anticoagulation status was associated with tamponade by multivariate analysis (odds ratio 21.7, 95% confidence interval: 1.7-275.5, P = 0.018)., Conclusions: Perforation was rare (0.50%) and managed successfully by a percutaneous strategy with good outcomes. Tamponade was associated with increased mortality and major complications. Anticoagulation status was an independent predictor of tamponade. Case complexity is highly variable and requires skilled operators with a multi-disciplinary approach to achieve good outcomes., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Introduction: Necrotizing fasciitis (NF) is a rare, severe soft tissue infection, characterized by rapid and extensive necrosis of the skin, subcutaneous tissue, and superficial and deep fascia. It is frequently misdiagnosed as other infectious diseases, leading to inappropriate treatment and potentially serious consequences. It may be complicated by septic shock and multiple organ failure with a fatal outcome., Patient Concerns: A 73-year-old woman presented with continuous itching, skin lesions, pain, and swelling of the outer side of her left leg. The patient was diagnosed with septic shock and multiorgan failure caused by left leg NF., Diagnosis: Septic shock and multiorgan failure caused by left leg NF., Interventions: Two surgeries were performed on the patient's leg, which effectively treated her septic shock and multiple organ dysfunction., Outcomes: The patient was followed up three times after her discharge. She had a good recovery, was generally well with no significant sequelae, and returned to her regular life., Conclusion: NF is an acute severe illness with high mortality. It is easily misdiagnosed, leading to delayed or erroneous treatment and serious (or potentially fatal) outcomes. Rapid and accurate diagnosis of NF is essential for patient recovery. In difficult cases, multidisciplinary consultations may be helpful. The management of NF includes early and thorough surgical debridement, antibiotics, and symptomatic treatment., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Objective: The aim of this study was to report the incidence and clinical course of a series of patients who were misdiagnosed with Bell's palsy and were eventually proven to have occult neoplasms., Methods: Two hundred forty patients with unilateral facial paralysis who were assessed at the facial nerve reanimation clinic, Victoria Hospital, London Health Science Centre, from 2008 through 2017 were reviewed. Persistent paralysis without recovery was the presenting complaint., Results: Nine patients (3.8%) who were proven to have occult neoplasms initially presented with a diagnosis of Bell's palsy. The mean diagnostic delay was 43.5 months. Four patients were proven to have skin cancers, 3 patients had parotid cancers, and 2 patients had facial nerve schwannomas as a final diagnosis. Initial magnetic resonance imaging (MRI) was performed in all 9 patients and 8 underwent a follow-up MRI. An occult tumor was identified upon review of the original MRI in one patient and at follow-up MRI in 8 patients. The mean time interval between the initial and follow-up imaging was 30.8 months. The disease status at most recent follow-up were no evidence of disease in 2 patients (22%) and alive with disease in 7 patients (78%). An irreversible, progressive pattern of facial paralysis combined with pain, multiple cranial neuropathies or history of skin cancer were predictable risk factors for occult tumors. Seven out of the 9 patients (77.8%) underwent at least one type of facial reanimation surgery, and the final subjective results by the surgeon were available for 5 patients. Three out of the 5 (60%) patients who were available for final subjective analysis were reported as Grade III according to the modified House-Brackmann scale., Conclusion: Occult facial nerve neoplasm should be suspected in patients with progressive and irreversible facial paralysis but the diagnosis may only become evident with follow-up imaging. Facial reanimation surgery is a satisfactory option for these patients., (© 2022. The Author(s).)

Background and objectives: Acute cholecystitis causes acute abdominal pain and may necessitate emergency surgery or intensive antibiotic therapy and percutaneous drainage, depending on the patient’s condition. The symptoms of acute cholecystitis in older patients may be atypical and difficult to diagnose, causing delayed treatment. Clarifying the risk factors for delayed diagnosis among older patients could lead to early diagnosis and treatment of acute cholecystitis. This study aimed to explore the risk factors for delayed diagnosis of acute cholecystitis among rural older patients. Material and Methods: This retrospective cohort study included patients aged over 65 years diagnosed with acute cholecystitis at a rural community hospital. The primary outcome was the time from symptom onset to acute cholecystitis diagnosis. We reviewed the electronic medical records of patients with acute cholecystitis and investigated whether they were diagnosed and treated for the condition at the time of symptom onset. Results: The average ages of the control and exposure groups were 77.71 years (standard deviation [SD] = 14.62) and 80.13 years (SD = 13.95), respectively. Additionally, 41.7% and 64.1% of the participants in the control and exposure groups, respectively, were men. The logistic regression model revealed that the serum albumin level was significantly related to a time to diagnosis > 3 days (odds ratio = 0.51; 95% confidence interval, 0.28−0.94). Conclusion: Low serum albumin levels are related to delayed diagnosis of cholecystitis and male sex. The presence of abdominal pain and a high body mass index (BMI) may be related to early cholecystitis diagnosis. Clinicians should be concerned about the delay in cholecystitis diagnosis in older female patients with poor nutritional conditions, including low serum albumin levels, a low BMI, vague symptoms, and no abdominal pain.

Tumor-induced osteomalacia (TIO) is a rare and largely underdiagnosed paraneoplastic condition. Previous reviews often reported incomplete data on clinical aspects, diagnosis or prognosis. The aim of this study was to present a systematic clinical review of all published cases of TIO. A search was conducted in Pubmed, Embase, Web of Science from inception until April 23rd, 2020. We selected case reports and case series of patients diagnosed with TIO, with information on tumor localization and serum phosphate concentration. Two reviewers independently extracted data on biochemical and clinical characteristics including bone involvement, tumor localization and treatment. 468 articles with 895 unique TIO cases were included. Median age was 46 years (range 9 months-90 years) and 58.3% were males. Hypophosphatemia and inappropriately low or normal 1,25-dihydroxyvitamin D levels, characteristic for TIO, were present in 98% of cases. Median tumor size was 2.7 cm (range 0.5 to 25.0 cm). Serum fibroblast growth factor 23 was related to tumor size (r = 0.344, P < 0.001). In 32% of the cases the tumor was detected by physical examination. Data on bone phenotype confirmed skeletal involvement: 62% of cases with BMD data had a T-score of the lumbar spine ≤ - 2.5 (n = 61/99) and a fracture was reported in at least 39% of all cases (n = 346/895). Diagnostic delay was longer than 2 years in more than 80% of cases. 10% were reported to be malignant at histology. In conclusion, TIO is a debilitating disease characterized by a long diagnostic delay leading to metabolic disturbances and skeletal impairment. Increasing awareness of TIO should decrease its diagnostic delay and the clinical consequences., (© 2022. The Author(s).)

An otherwise fit young woman presented with a 10-year history of non-progressive wheeze and 'noisy breathing'. She had previously been diagnosed with teenage-onset asthma but had been unresponsive to inhaled corticosteroids and bronchodilators. A dysfunctional breathing disorder had been considered a possible diagnosis by several general practitioners, and there were no features to suggest systemic conditions. The patient had undergone an otherwise apparently uncomplicated intubation general anaesthetic for a gastroenterological investigation 13 years earlier. An outpatient flexible endoscopic examination of the upper aerodigestive tract demonstrated an isolated subglottic stenosis which was characterised by cross-sectional imaging. Microlaryngoscopy confirmed a smooth subglottic stenosis which was dilated using a minimally invasive balloon dilatation technique to good clinical effect., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: New direct-acting antiviral therapies have revolutionized hepatitis C virus (HCV) infection therapy. Nonetheless, once liver cirrhosis is established, the risk of hepatocellular carcinoma (HCC) still exists despite virus eradication. Late HCV diagnosis hinders timely access to HCV treatment. Thus, we determined trends and risk factors associated with late HCV among patients with a diagnosis of HCC in Taiwan., Methods: We conducted a population-based unmatched case-control study. 2008-2018 Claims data were derived from the Taiwan National Health Insurance Research Database. Individuals with an initial occurrence of liver cancer between 2012 and 2018 were included. The late HCV group were referred as individuals who were diagnosed with HCC within 3 years after HCV diagnosis. The control group were referred as individuals who were diagnosed more than 3 years after the index date. We used multivariable logistic models to explore individual- and provider-level risk factors associated with a late HCV diagnosis., Results: A decreasing trend was observed in the prevalence of late HCV-related HCC diagnosis between 2012 and 2018 in Taiwan. On an individual level, male, elderly patients, patients with diabetes mellitus (DM), and patients with alcohol-related disease had significantly higher risks of late HCV-related HCC diagnosis. On a provider level, patients who were mainly cared for by male physicians, internists and family medicine physicians had a significantly lower risk of late diagnosis., Conclusions: Elderly and patients who have DM and alcohol related disease should receive early HCV screening. In addition to comorbidities, physician factors also matter. HCV screening strategies shall take these higher risk patients and physician factors into consideration to avoid missing opportunities for early intervention., (© 2022. The Author(s).)

Background: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin's dosage., Case Presentation: The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period., Conclusions: SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease., (© 2022. The Author(s).)

Background: Dancing eye syndrome or opsoclonus-myoclonus syndrome (OMS) is a very rare disease (incidence <1/5,000,000 per year), which is more prevalent in young children. Although it is not usually a cause of mortality, the aftermaths are not rare., Methods: We performed an observational retrospective review of children diagnosed with OMS in our neuropediatric department from 1996 to 2020, with the objective of assessing the prognostic value of initial clinical features. All medical data from diagnosis to last follow-up were reviewed. We defined unfavorable evolution of OMS as persistence or worsening of symptoms. Subsequently, based on a literature review, our results and experience, a diagnostic algorithm was developed., Results: A total of 13 OMS patients were included: 61.5% were male (n = 8), median age at diagnosis was 18 months (IR = 76), median treatment delay was 14 days (IR = 146) and OMS score at onset was 8 (IR = 11). The most frequent etiologies were neuroblastoma-associated and idiopathic OMS (38.46%; n = 5) of the patients, followed by post-infectious OMS (n = 3). All the patients were treated with corticosteroids, five required a surgical intervention (neuroblastoma group), and three required adjunctive immune therapy (immunoglobulins, cyclophosphamide and/or rituximab). We detected neurodevelopmental disorders in 38.46% (n = 5) of the patients, mainly attention deficit (n = 4), and persistent sleep disturbances (n = 4). The median OMS score at the end of follow-up was 1 (IR = 3). An important diagnostic delay, OMS score of ≥10 and age >1 year at onset may correlate with a higher risk of aftermaths. We detected a better prognosis in the post-infectious OMS, with full recovery occurring in 2/3 of patients., Conclusions: Early clinical suspicion is key to guarantee maximum response of treatment., Competing Interests: Declaration of competing interest No one., (© 2022 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Background: This retrospective study analyzed the clinical characteristics and outcomes of patients with anaerobic spondylodiscitis., Methods: From a total of 382 patients with infectious spondylodiscitis, nine patients (2.4%; two male and seven female with an average age of 67 years) with anaerobic spondylodiscitis between March 2003 and March 2017 were analyzed., Results: Most of the patients (77.8%) initially presented with afebrile back pain. Hematogenous spread occurred in seven patients and postoperative infection in two patients. Bacteroid fragilis was the most common pathogen isolated from three patients. Atypical radiographic characteristics, including a vertebral fracture with the preservation of disk height or coexisting spondylolytic spondylolisthesis, occurred in four patients with hematogenous anaerobic spondylodiscitis. The eradication rate of anaerobic infection was significantly higher in the patients with hematogenous infection than in those with postoperative infection (100% vs. 0%, p = 0.0476). Anaerobic spondylodiscitis accounted for 2.4% of cases of infectious spondylodiscitis and predominantly affected the female patients., Conclusions: Diagnostic delay may occur because of atypical spinal radiographs if the patient reports only back pain but no fever. Anaerobic infection following elective spinal instrumentation has a higher recurrence rate., (© 2022. The Author(s).)

Tumor-induced osteomalacia (TIO) is an acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemic osteomalacia caused by phosphaturic mesenchymal tumors (PMTs) developed in the bone or soft tissue. Diagnostic delay should be addressed, and ideal techniques to localize PMTs and efficient treatment options should be explored to improve the outcomes of this rare disease. To clarify the detailed clinical course and outcomes of TIO patients, retrospective questionnaire surveys were conducted among physicians from the Japanese Society for Bone and Mineral Research (JSBMR) and the Japan Endocrine Society (JES). The primary survey collected the number of TIO patients between January 2007 and December 2018. The secondary survey aimed to obtain the detailed characteristics, laboratory data, and outcomes. Eighty-eight patients (52 males, mean: 52 years old) were included, and 24 patients were clinically diagnosed with TIO without localized PMTs. The median duration from the onset to detection of high FGF23 levels was 3.4 years, with 77 patients being initially misdiagnosed. Among the methods used to detect small, localized PMTs (≤10 mm), fluorine-18-fluorodeoxyglucose-positron emission tomography/computed tomography and somatostatin receptor scintigraphy were less sensitive than somatostatin receptor positron emission tomography/computed tomography (SRPET/CT). Systemic venous sampling (SVS) of FGF23 was performed in 53 patients; among them, SVS was considered useful for detecting localized PMTs in 45 patients with diverse tumor sizes. Finally, 45 patients achieved biochemical remission by surgery, 39 patients continued pharmaceutical treatment, including burosumab (11 patients), and four patients died. These results encouraged us to further increase the awareness of TIO and to improve the accessibility of SRPET/CT and SVS. Further evidence about the efficacy of new pharmaceutical treatments is awaited. © 2022 American Society for Bone and Mineral Research (ASBMR)., (© 2022 American Society for Bone and Mineral Research (ASBMR).)

Hypopituitarism is a state of complete or partial deficiency of pituitary hormones, including adrenal insufficiency, hypothyroidism, hypogonadism, growth hormone deficiency, and, rarely, diabetes insipidus.The article describes a clinical case of hypopituitarism due to a pituitary tumor in a postmenopausal woman. Difficulties in diagnosing hypopituitarism were due to a history of primary hypothyroidism. The first identified component of panhypopituitarism in the patient, (central hypothyroidism) had previously been seen as laboratory indications of medication-induced hyperthyroidism.The non-specific nature of the clinical symptoms, as well as a relatively rare combination of endocrine diseases, led to a long examination period and delayed diagnosis of the pituitary tumor.Whether the development of hypopituitarism in a patient with a nonfunctional pituitary tumor is an indication for transsphenoidal pituitary surgery remains a controversial issue. The decision for surgery is made taking into account the characteristics of the course of the disease in a particular patient. In this clinical case, a conservative tactic was chosen with hormone replacement therapy for glucocorticoid and thyroid deficiency.

Introduction: posterior glenohumeral fracture dislocation (PGHFD) is a rare injury. It may present secondary to a seizure, electrocution or due to direct trauma. It is usually missed, and late diagnosis is common which increases the rate of complications and sequalae., Case Report: 52 year old male, transferred to a reference trauma center due to a tonic-clonic seizure and a right PGHFD. Upon admission radiographs are requested and right shoulder injury is confirmed. Additionally, a simple left posterior glenohumeral dislocation (that was missed in the initial assessment of the patient) is observed. A computed tomography (CT) scan is obtained for both shoulders to plan surgery. The CT scan showed a bilateral PGHFD with severe comminution in the left shoulder, showing considerable worsening of the left shoulder since admission. Open reduction and bilateral locked plate osteosynthesis were performed in a one stage surgery. At two years follow up the patient evolved favorably with a Quick DASH score of 5% and a CONSTANT score of 72 and 76 for his right and left shoulder, respectively., Conclusion: PGHFD is an infrequent injury, which requires a high level of suspicion to avoid diagnostic delay and prevent complications and sequelae. Bilateral cases may be seen in cases of seizure. With prompt surgical treatment, satisfactory results can be achieved with a complete return to normal activities.