Search

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

BACKGROUND: The natural history of primary sclerosing cholangitis (PSC) among African Americans (AA) is not well understood. METHODS: Transplant-free survival and hepatic decompensation-free survival were assessed using a retrospective research registry from 16 centers throughout North America. Patients with PSC alive without liver transplantation after 2008 were included. Diagnostic delay was defined from the first abnormal liver test to the first abnormal cholangiogram/liver biopsy. Socioeconomic status was imputed by the Zip code. RESULTS: Among 850 patients, 661 (77.8%) were non-Hispanic Whites (NHWs), and 85 (10.0%) were AA. There were no significant differences by race in age at diagnosis, sex, or PSC type. Inflammatory bowel disease was more common in NHWs (75.8% vs. 51.8% p=0.0001). The baseline (median, IQR) Amsterdam-Oxford Model score was lower in NHWs (14.3, 13.4-15.2 vs. 15.1, 14.1-15.7, p=0.002), but Mayo risk score (0.03, -0.8 to 1.1 vs. 0.02, -0.7 to 1.0, p=0.83), Model for End-stage Liver Disease (5.9, 2.8-10.7 vs. 6.4, 2.6-10.4, p=0.95), and cirrhosis (27.4% vs. 27.1%, p=0.95) did not differ. Race was not associated with hepatic decompensation, and after adjusting for clinical variables, neither race nor socioeconomic status was associated with transplant-free survival. Variables independently associated with death/liver transplant (HR, 95% CI) included age at diagnosis (1.04, 1.02-1.06, p

ImportanceEarly-onset colorectal cancer (EOCRC), defined as a diagnosis at younger than age 50 years, is increasing, and so-called red flag signs and symptoms among these individuals are often missed, leading to diagnostic delays. Improved recognition of presenting signs and symptoms associated with EOCRC could facilitate more timely diagnosis and impact clinical outcomes.ObjectiveTo report the frequency of presenting red flag signs and symptoms among individuals with EOCRC, to examine their association with EOCRC risk, and to measure variation in time to diagnosis from sign or symptom presentation.Data sourcesPubMed/MEDLINE, Embase, CINAHL, and Web of Science were searched from database inception through May 2023.Study selectionStudies that reported on sign and symptom presentation or time from sign and symptom presentation to diagnosis for patients younger than age 50 years diagnosed with nonhereditary CRC were included.Data extraction and synthesisData extraction and quality assessment were performed independently in duplicate for all included studies using Preferred Reporting Items for Systematic Reviews and Meta-analyses reporting guidelines. Joanna Briggs Institute Critical Appraisal tools were used to measure risk of bias. Data on frequency of signs and symptoms were pooled using a random-effects model.Main outcomes and measuresOutcomes of interest were pooled proportions of signs and symptoms in patients with EOCRC, estimates for association of signs and symptoms with EOCRC risk, and time from sign or symptom presentation to EOCRC diagnosis.ResultsOf the 12 859 unique articles initially retrieved, 81 studies with 24 908 126 patients younger than 50 years were included. The most common presenting signs and symptoms, reported by 78 included studies, were hematochezia (pooled prevalence, 45% [95% CI, 40%-50%]), abdominal pain (pooled prevalence, 40% [95% CI, 35%-45%]), and altered bowel habits (pooled prevalence, 27% [95% CI, 22%-33%]). Hematochezia (estimate range, 5.2-54.0), abdominal pain (estimate range, 1.3-6.0), and anemia (estimate range, 2.1-10.8) were associated with higher EOCRC likelihood. Time from signs and symptoms presentation to EOCRC diagnosis was a mean (range) of 6.4 (1.8-13.7) months (23 studies) and a median (range) of 4 (2.0-8.7) months (16 studies).Conclusions and relevanceIn this systematic review and meta-analysis of patients with EOCRC, nearly half of individuals presented with hematochezia and abdominal pain and one-quarter with altered bowel habits. Hematochezia was associated with at least 5-fold increased EOCRC risk. Delays in diagnosis of 4 to 6 months were common. These findings highlight the need to identify concerning EOCRC signs and symptoms and complete timely diagnostic workup, particularly for individuals without an alternative diagnosis or sign or symptom resolution.

Vestibular schwannoma (VS) is a benign peripheral nerve sheath tumor involving the vestibulocochlear nerve. Affected patients typically experience a gradual emergence of episodic imbalance and unilateral hearing loss, tinnitus, and headache. Less often, VS may be associated with facial pain; ocular, otic, and taste disturbance; paresthesia of the tongue and face; and temporomandibular disorder-like presentations. There is limited information in the dental literature relating the myriad of oral and maxillofacial manifestations of VS. The objective of this article is to underscore the importance for dental clinicians to seek clinicopathologic correlations with VS-related symptomatology, potentially resulting in a timelier diagnosis and improved patient outcomes. To convey this clinical challenge, a detailed narrative of a 45-year-old patient with an 11-year delay in diagnosis has been reported. In addition, the typical radiographic appearance of an implanted cranial device placed following VS resection has been provided. [ABSTRACT FROM AUTHOR]

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 β emitters, somatostatin analogs, chemotherapy, and targeted molecular therapies. Gastroenteropancreatic neuroendocrine tumors are a heterogeneous and increasingly common malignancy. Here, the authors discuss current breakthroughs in diagnosis and management of these tumors. [ABSTRACT FROM AUTHOR]

This study examines a cohort of persons aged 14 to 25 years referred to a threat assessment centre in Australia due to concerns regarding their potential for extremist or other grievance-fuelled violence. It examines the demographic features, clinical comorbidities and threat profile of this cohort and compares cases with and without a diagnosis of Autism Spectrum Disorder (ASD). The findings suggest that young people with ASD are significantly overrepresented, compared to the population rate, with late diagnosis and complex, unmet needs. The services required to mitigate risk were predominantly mainstream disability and mental health programs, not specialised forensic interventions. These exploratory findings have broader implications for improved provision of autism-specific services to prevent this vulnerable group entering the justice system. [ABSTRACT FROM AUTHOR]

Background: Melanoma is the most malignant skin tumor, with a high metastatic potential. Spitzoid melanoma is a subtype of melanoma requiring rapid management and extensive tumor resection. We have set the goal to recognize anatomical peculiarities and difficulties diagnoses posed by this type of tumor, as well as to recognize the management modalities, especially the surgical one, of malignant spitzoid melanoma. Case presentation: A 25-year-old Tunisian male patient had consulted for nodular lesion of the right index, evolving for 4 years. A malignant tumor was strongly suspected, then confirmed as a melanoma by a biopsy excision. Initially, the excision was incomplete in depth, suggesting a complementary surgery, but the patient refused it; 3 years later, the patient again consulted after the appearance of an axillary lymphadenopathy and worsening of the skin lesion. A supplement of tumor removal with lymph node biopsy were performed. It was decided to perform an amputation of the second ray and the first commissure with cheiroplasty, reconstructing a four-finger hand. An homolateral axillary cleaning was performed at the same time. The postoperative result is considered esthetically and functionally satisfying. The evolution was marked by the appearance of pulmonary metastases, requiring adjuvant chemotherapy. A regression of the nodule under the mammary skin and total disappearance of axillary nodes have been marked; but the patient's condition rapidly deteriorated, and he died after a 2-month decline. Conclusion: Spitzoid melanoma is exceptional, posing difficulties in diagnostics, and it should not be underestimated, considering that it may involve the vital prognosis. Knowledge of this rare form of melanoma is important to avoid misdiagnosis, which delays diagnosis and subsequent therapy. [ABSTRACT FROM AUTHOR]

Background: Colorectal cancer (CRC) is globally the third most prevalent cancer and a leading cause of cancer-related deaths. In Alberta, Canada, a significant portion of CRC diagnoses occur following emergency department (ED) presentations. Gaps remain in understanding patient's perspectives on CRC diagnosis after an ED visit. The aim of this study was to examine the experiences and perspectives of a group of patients diagnosed with CRC subsequent to an ED visit in Alberta and their close contacts. Methods: We conducted a qualitative study using in-depth, semi-structured interviews with patients diagnosed with CRC after an ED visit at the Rockyview General Hospital, Calgary, and their close contacts, from November 2022 to June 2023. Interviews focused on symptom recognition, healthcare interactions, and the decision-making process leading to an ED visit. They were conducted in-person or over the phone, and analysed using thematic analysis. Results: Eighteen participants (12 patients and 6 close contacts) were interviewed, revealing four main themes: (1) variability in symptom recognition and interpretation; (2) inconsistencies in primary care consultations; (3) factors influencing decision-making leading to an ED visit; and (4) recommendations for expedited diagnosis outside of EDs. Conclusion: The findings highlight the complexity of the diagnostic journey for CRC patients in Alberta, pointing to significant gaps in symptom recognition and response by patients and healthcare providers. Improved diagnostic protocols and targeted support for healthcare providers, as well as approaches to address systemic delays may help streamline the diagnostic journey. Future research should focus on exploring innovative interventions to address the identified barriers to timely CRC diagnosis. [ABSTRACT FROM AUTHOR]

Generalized pustular psoriasis (GPP) is a rare, chronic skin disease, characterized by widespread pustules and erythema, often accompanied with systemic signs and symptoms. GPP flares occur episodically but may be protracted. Left untreated, GPP can be life‐threatening. Despite being first reported over 100 years ago, definitions and diagnostic criteria for GPP have been inconsistent and varied due, in part, to its rarity and a limited understanding of its pathogenesis. As such, many patients with GPP face delays in diagnosis and subsequent treatment. This manuscript aims to increase the recognition of GPP and provide foundational considerations to aid in the definition and diagnosis of this disease. [ABSTRACT FROM AUTHOR]

ObjectiveParticipants and methodsResultsConclusionsThe present study examined the cognitive reserve (CR) theory at late stages of Alzheimer’s disease (AD). The objective is to replicate previous studies and examine the complex role of education and family size as indicators of CR.This is a retrospective study included 642 patients diagnosed with AD after age 65, categorized into low education (LE, ≤ 8 years, n = 141) and medium-high education (MHE, ≥ 9 years, n = 442) groups. Participants were followed up longitudinally using the Mini Mental State Examination.Higher education in the MHE group, but not in the LE group, correlated with delayed diagnosis. In both groups, higher education correlated with accelerated cognitive decline. In the MHE group, country of origin was associated with cognitive decline, while in the LE group, it was linked to family size.This study shows that in patients with MHE but not in LE, higher education resulted in delayed diagnosis. Conversely, in cases of LE, this measure may not fully reflect CR and abilities. Additionally, higher education was associated with faster deterioration, a finding that has not been replicated often in the literature. The study illustrates the complex impact of CR proxies on age of diagnosis and cognitive decline. [ABSTRACT FROM AUTHOR]

Introduction: Inborn errors of immunity (IEIs) are rare genetic disorders primarily identified in children due to their significant effects on immune system functionality. However, an increasing number of IEI cases are being diagnosed in adults, attributed to delayed presentation or advancements in diagnostic capabilities. This study explores the clinical and immunologic distinctions between IEIs diagnosed in adulthood versus childhood, shedding light on their differential presentations, the impact of diagnostic delays, and treatment outcomes. Methods: This study focused on 122 adult patients with IEI above 17 years old, diagnosed in adulthood or childhood. We collected comprehensive data on demographics, clinical presentations, genetic mutations, and therapeutic interventions. Results: The study revealed that 72.9% of participants were diagnosed in adulthood, facing a median diagnostic delay of 96 months. Diagnostic delays were longer in adults (132 months vs. 24 months) than in children. The most common clinical manifestations at onset were recurrent infections (46.7%) and autoimmunity (18%). Predominantly antibody deficiency was the most frequently diagnosed immunodeficiency (54.9%), followed by immunodysregulation at a rate of 26.2%. A higher incidence of immune thrombocytopenia or other complications, such as hepatomegaly and enteropathy, was observed in adult-diagnosed patients with IEI. Malignancies were more prevalent in patients with adult-onset IEI compared to those with childhood-onset (18.1% vs. 5.2%). Overall, 15 different malignancies were recorded in 13 patients (10.6%), including lymphomas and cancers of the stomach, thymus, skin, breast, and colon. Conclusions: The findings highlight a considerable diagnostic delay in recognizing IEI, especially in adults, and illustrate distinct differences in disease manifestation and progression between adult-onset and delayed-diagnosis groups. [ABSTRACT FROM AUTHOR]

Depersonalization/derealization disorder (DPD) is a prevalent yet inadequately understood clinical condition characterized by a recurrent or persistent sense of unreality. This study aims to provide insight into DPD through descriptive and comparative analyses involving a large group of Chinese participants. The socio-demographic details (age, gender proportion, education, occupational status, marital status), depersonalized and dissociative symptom characteristics (symptomatic factors or subscales of the Cambridge Depersonalization Scale and the Dissociative Experiences Scale), development trajectory (age of onset, potential precipitating factors, course characteristics), treatment history (duration of delayed healthcare attendance, duration of delayed diagnosis, previous diagnoses), and adverse childhood experiences of the DPD patients are presented. Comparisons of anxiety and depressive symptoms, alongside psychosocial functioning, between DPD participants and those diagnosed with generalized anxiety disorder, bipolar disorders, and major depressive disorder were conducted. The analysis highlights a higher male preponderance and early onset of DPD, symptomatology marked by derealization, notable impairment in psychosocial functioning, and prolonged periods of delayed healthcare attendance and diagnosis associated with symptom severity. Furthermore, noteworthy relationships between adverse childhood experiences and symptom levels were identified. The findings substantiate the view that DPD is a serious but neglected mental disorder, urging initiatives to improve the current condition of DPD patients. [ABSTRACT FROM AUTHOR]

Aim Method Results Interpretation To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood‐onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.A total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8 years 8 months and 12 years 2 months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult‐onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing.Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48 hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.Delay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusion To assess the duration of antimicrobial treatment; hospital length of stay; and invasive bacterial infections rates in hospitalised infants following the adoption of a management guideline.Faculty agreed to a standard of 24 h of antibiotic treatment for well‐appearing febrile infants with proven viral infection and no growth on bacterial cultures. The outcomes were the duration of hospitalisation and antibiotic treatment of febrile infants less than 8 weeks of age who have enterovirus, parechovirus, respiratory viruses detected. We monitored re‐admissions and missed invasive infections.Of the total 1696 infants studied, the median antibiotic treatment duration decreased from 31.5 to 24.8 h in virus‐infected infants ≤21 days of age (p = 0.02) and from 26 to 19.7 h in infants 22–56 days of age (p < 0.001). The decrease was less in infants not infected with a virus. No patient had an invasive infection identified after discharge.The implementation of our care standard resulted in reduction in antibiotic treatment duration without known delayed diagnosis of bacterial infections. Infants without a proven viral aetiology may need further study to inform management decisions. [ABSTRACT FROM AUTHOR]

Introduction Acute Compartment Syndrome (ACS) is a severe trauma caused by elevated intra-muscle-compartment pressure (ICP). The current standard method for diagnosis is to insert a needle into the muscle sterilely under anesthesia. However, to secure the environment is sometimes not easy and leads to delays in diagnosis. Recently, we have focused on shear wave ultrasound elastography (SWE) as an alternative, which can be done concisely in unclean environment and without anesthesia. We would like to report the usefulness of SWE for ACS diagnosis using 2-pedal walking turkey model recently developed in our lab. Materials and Methods A total of 32 1-year-old Bourbon turkeys were used. 5% solution of chicken albumin was infused continuously into the tibialis cranialis (TC) muscle using IV pump. The ICP was increased stepwise from 0 to 50 mmHg. During the rising of ICP, the correlation between values of SWE (kPa) and ICP (mmHg) was measured. After the ICP reached 50 mmHg, half of the turkeys were maintained at this pressure for 2 hours and the rest for 6 hours. After infusion, a fasciotomy was performed on the half turkey. Half of the turkeys were euthanized after 2 weeks and the rest after 6 weeks. SWE of TC muscle and walking gait data on turkeys using a portable walkway system were measured weekly until euthanasia. At euthanasia, isometric tetanic muscle force (ITF) tests to TC muscle and histological evaluations were performed. Results SWE value (kPa) was highly significantly correlated to the actual ICP (mmHg) (R2 = 0.91). Stance of ACS side leg were significantly extended, and swing of the control side shortened from the second to the third week after ACS in the 6 hours infusion-no-fasciotomy group (P  < 0.05*). ITF was significantly reduced mainly in the 6 hours infusion group (P  < 0.05*). Histological evaluation revealed that in the 6 hours infusion and 6 weeks survival group, both the muscle fiber and intercellular distances were significantly expanded (P  < 0.05). Conclusion SWE seems to be a substitute measure of ICP in diagnosing ACS. With regard to our in vivo ACS model using turkey, survival at 50 mmHg ICP for 6 hours and 6 weeks post ACS would be an appropriate situation. [ABSTRACT FROM AUTHOR]

Background: Patients undergoing treatment for prostate cancer may develop lymphoedema of the midline region. This has a substantial impact on a patient's quality of life and its diagnosis is often delayed or missed. Therefore, the purpose of this study is to compare the characteristics of patients with leg and midline lymphoedema to patients with only leg lymphoedema. Methods: We retrospectively collected patient-, cancer-, lymphoedema- and lymphoedema treatment-related data of 109 men with lymphoedema after treatment for prostate cancer. First, 42 characteristics were compared between both groups. Second, factors predicting presence of midline lymphoedema were explored by multivariable analyses. Results: The mean age of the patients with lymphoedema was 68 (±7) years and mean BMI is 28 (±4) kg/m2. Median duration of lymphoedema before the first consultation was 27 (9;55) months. Based on univariable analyses, patients with leg and midline lymphoedema had more frequently upper leg lymphoedema (89% (31/35) vs. 69% (51/74), p = 0.026), skin fibrosis (34% (12/35) vs. 16% (12/74), p = 0.034) and lymphatic reconstructive surgery (9% (3/35) vs. 0% (0/71), p = 0.020) than patients with only leg lymphoedema. Additionally, patients with leg and midline lymphoedema reported less frequently lower leg lymphoedema (77% (27/35) vs. 95% (70/74), p = 0.007). Based on the multivariable analysis, not having lower leg lymphoedema, skin fibrosis, performing self-bandaging and self-manual lymphatic drainage appear to be predictors for having midline lymphoedema. Conclusions: If patients with lymphoedema after prostate cancer do not have lower leg lymphoedema, have skin fibrosis, perform self-bandaging or self-manual lymphatic drainage, they possibly have midline lymphoedema. [ABSTRACT FROM AUTHOR]

Background: Many complications may occur after placement of the ventriculoperitoneal shunt (VP shunt) for hydrocephalus, and delayed shunt insufficiency (DSI) is among the most common. It is often caused by abdominal adhesions, which increases the difficulty of diagnosis. This study aimed to explore the clinical value of dynamic plain abdominal radiography (DPAR) as a simple diagnostic method for patients with DSI due to terminal adhesion of the peritoneal shunt after VP surgery. Methods: A total of 30 patients with high suspicion of DSI due to abdominal adhesions after VP surgery were included. DPAR was used for prospective assessment. The interval between the first and second PAR was 4–6 h before surgery. If two plain abdominal radiography at different times indicated that the end of the shunt tube in the abdominal segment was fixed, it was diagnosed as DSI due to adhesion of the shunt tube at the abdominal end. The peritoneal end of the shunt tube was surgically repositioned. Postoperative DPAR was repeated to evaluate the distance of the shunt outlet within the abdominal segment. Results: All cases showed clinical symptoms or imaging findings of shunt insufficiency. The diagnostic accuracy of DPAR was 96.67% (29/30). The end of the shunt tube in the abdominal segment of the preoperative group was fixed with abdominal plain film twice with a mean difference of 1.74 ± 1.18 cm. The mean postoperative change in the position of the end of the shunt tube in the abdominal section was 9.36 ± 2.64 cm, showing a significant difference compared with the preoperative group (P < 0.001). The mean postoperative EVANs index (0.37 ± 0.08) was significantly lower than the preoperative (0.42 ± 0.08) (P = 0.007), Glasgow coma scale score (12.8 ± 2.69) was higher than the mean preoperative score (11.36 ± 2.43) (P = 0.013). Conclusion: DPAR is a simple and effective method for the diagnosis of shunt insufficiency caused by delayed abdominal end adhesion after VP shunt. [ABSTRACT FROM AUTHOR]

Extensive spinal epidural abscess (ESEA) is a rare clinical entity subject to delayed diagnosis, which can be explained by the extension of the epidural collection, thereby delaying the mass effect responsible for its clinical manifestations. We report a rare case of an extensive C7–T10 epidural abscess in a 54-year-old man treated with antibiotics, laminectomy, and abscess drainage. In addition, we conducted a systematic literature search according to the "Preferred Reporting Items for Systematic Reviews" guidelines. Relevant studies (1980–2023) reporting patients with ESEA were identified from PubMed databases. A total of 48 studies reporting 55 patients were included in this study with a mean age of 55.7 ± 14.6 years with a male predominance of 61.8% (n = 34). The median duration of follow-up was 38 months (21.5–64.3). The mortality rate of ESEA was 1.8% for a 21.8% morbidity rate with 76.4% (n = 42) reported to have been improved after surgery. Both single and multilevel laminectomy with abscess drainage for ESEA leads to patient recovery from this devastating condition. Evaluation of the outcome with data on time-to-Nadir and Nadir-to-surgery is needed to codify ESEA management. [ABSTRACT FROM AUTHOR]

Objectives To explore differences in axial spondyloarthritis (axSpA) clinical phenotype around the world in a large sample of patients included in the International Map of Axial Spondyloarthritis (IMAS). Method IMAS was a cross-sectional online survey (2017–2022) of 5557 unselected axSpA patients from 27 countries. We analysed across five geographic regions the age at symptom onset, diagnostic delay, gender, HLA-B27, family history, extra-musculoskeletal manifestations, presence of comorbidities, disease activity (BASDAI), level of spinal stiffness and treatments. Results Of 5557 IMAS participants, 3493 were from Europe, 770 from North America, 600 from Asia, 548 from Latin America and 146 from South Africa. Age at symptom onset ranged between 25 and 30 years and was higher in Latin America. Diagnostic delay was longest in South Africa and lowest in Asia. The lowest HLA-B27 positivity was observed in Latin America and the highest in Asia. Extra-musculoskeletal manifestations were the lowest in Europe. Mean disease activity (BASDAI) was 5.4, with highest values in South Africa and lowest in Asia. Most of the patients had used NSAIDs for their condition and less than half had ever taken conventional synthetic DMARDS; both were more frequent in Latin America and South Africa. Almost half of the patients had ever taken biologic DMARDs, more frequent use being in the Americas. Conclusion There is great heterogeneity of axSpA clinical phenotype presentation around the world. AxSpA manifests differently in different regions, so further understanding of these differences of phenotypes is needed to achieve early diagnosis and initiation of optimal disease treatment in axSpA in the different regions. [ABSTRACT FROM AUTHOR]

In the present study, we show that a blood-based biomarker "4Kscore" as a reflex test in men with prostate-specific antigen ≥3.0 ng/ml would reduce the number of magnetic resonance imaging scans needed by 41%, and more importantly, 28% of men would be spared a biopsy. We investigated whether adding 4Kscore as a reflex test to prostate-specific antigen (PSA) could improve the screening algorithm for prostate cancer (PC). In the GÖTEBORG-2 PC screening trial, 38 000men (50–60 yr) were invited to PSA testing and, if elevated, followed by magnetic resonance imaging (MRI). For 571 men with PSA ≥3.0 ng/ml and evaluable outcomes, 4Kscore was calculated. The performance using a prespecified 4Kscore cutoff of 7.5% was evaluated. The area under the curve for 4Kscore to identify intermediate- and high-risk PC was 0.84 (95% confidence interval 0.79–0.89), and the positive predictive value, and negative predictive value were 15% (0.12–0.20) and 99% (97–100%), respectively. Of the 54 men diagnosed with intermediate- or high-grade PC, two had a 4Kscore cutoff below 7.5%, both with organ-confined intermediate-risk PC. Per 1000 men with elevated PSA, adding 4Kscore would have resulted in avoidance of MRI for 408 (41%) men, biopsies for 95 (28% reduction) men, and diagnosis of 23 low-grade cancers (23% reduction) while delaying the diagnosis of four men with intermediate-grade cancers (4%). Including 4Kscore as a reflex test for men with elevated PSA reduces the need for MRI and biopsy markedly, and results in less overdiagnosis of low-grade PC at the cost of delaying the diagnosis of intermediate-grade PC in a few men. These results add further evidence for including new blood-based biomarkers in addition to PSA to improve the harm and benefit ratio of PC screening and reduce the need for resource-demanding MRI and biopsies. [ABSTRACT FROM AUTHOR]

This article, published in the Journal of Neurology, presents a case report of a middle-aged man who developed progressive multifocal leukoencephalopathy (PML) after two years of siponimod treatment for secondary progressive multiple sclerosis (SPMS). PML is a severe infection of the central nervous system caused by the John Cunningham virus (JCV), and it is most commonly associated with natalizumab therapy in MS patients. While no cases of PML associated with siponimod exposure had been published previously, three cases were reported during the clinical trial program. This case highlights the rare occurrence of PML in patients treated with siponimod and emphasizes the importance of monitoring lymphocyte counts and considering treatment discontinuation in patients with persistently low levels. [Extracted from the article]

Radiographs, also known as plain films, are an important tool in medical imaging for diagnosing bone and joint abnormalities. They are often the first imaging study performed due to their accessibility, speed, and affordability. Radiographs can reveal abnormalities that may not be visible on other imaging modalities like MRI and are more specific in diagnosing bone neoplasms. While AI is being explored for radiographic interpretation, it is not yet capable of replacing radiologists. Radiographs are particularly useful in evaluating trauma, joint pain, and bone pain, as they can detect fractures, ligament injuries, and other abnormalities. However, radiologists must have knowledge of normal anatomy and injury mechanisms to interpret radiographs accurately. The article emphasizes the importance of radiographic interpretation and the limitations of other imaging modalities, providing examples of conditions that can be detected through radiographs. Ongoing training and the use of classic resources are highlighted to improve interpretive skills. [Extracted from the article]

Improvements in spinal fusion devices and techniques have enabled stronger spinal fusion, resulting in excellent clinical outcomes. Nevertheless, complications associated with implants, such as screw misalignment, screw lubrication, cage dislocation, and skin issues, might occur. This study aimed to investigate the characteristics and symptoms of sacral fractures after spinal instrumented fusion. This case series retrospectively examined the medical records of eight patients (one man and seven women; mean age: 74 years) diagnosed with sacral fractures after undergoing posterior spinal instrumented fusion from February 2015 to March 2022. The average number of fusion levels in all patients was 3.5 (range, 1–10). The lowest instrumented vertebrae (LIV) ranged from L5 to the ilium. Sacral fractures were diagnosed at 18.8 (range, 0.5–84) months postoperatively. The average time from consultation to diagnosis was nine days (range, 0–25 days). Two patients had subclinical fractures, two had H-shaped fractures with the LIV at L5, and four had U-shaped fractures, including screw holes. Buttock pain and lower extremity pain, the most commonly reported symptoms, were observed in seven patients each. There were also instances of leg numbness, muscle weakness, and unilateral leg pain that may be related to L5 or S1 radiculopathy. In all patients, leg and buttock pain were worse during movement and in the sitting position, and better while resting and in the supine position. Three patients were treated conservatively, and five were treated with extended fixation to the ilium. Sacral fractures following posterior spinal fusion can cause radiculopathy and buttock pain. Symptoms are especially severe when instability occurs in the pelvic region, such as during movements or sitting. As atypical radiculopathy may lead to delays in diagnosis, spine surgeons should recognize the symptoms of this condition. [ABSTRACT FROM AUTHOR]

Purpose: While the unmet healthcare needs are still being improved upon, the wellbeing of cancer patients has increasingly become a prime concern in Malaysia. The objective of this study is to ascertain the trend of unmet supportive care needs, post-traumatic growth (P T G), coping strategies, and social supports among patients with breast cancer over the three time points of treatment: T1 at early diagnosis, T2 for three months after diagnosis, and T3 for six months after diagnosis. Methods: A total of 240 cancer patients participated in this prospective cohort study, with follow-up visits from October 2019 until July 2021. Data were collected using several instruments: Brief COP E, the Source of Social Support Scale (SSSS), the Post-Traumatic Growth Inventory - Short Form (P T GI-SF), and a Malay version of the 34-Item Shortform Supportive Care Need Survey (SCNS-SF34). Results: The results indicated a significant change from T1 to T3 for all domains of the unmet needs (p-value < 0.001), except for the sexual domain. A lower SCNS-SF34 score resulted from more unfavorable social support. The P T GI-SF results indicated a trend toward meeting the unmet needs, and a higher SCNS-SF-34 score predicted a considerably higher P T GI-SF score. Conclusions: Our study findings suggest that majority of the factors evaluated in terms of unmet needs among cancer patients have undergone considerable changes. [ABSTRACT FROM AUTHOR]

Introduction: Obstetric hemorrhage remains a largely preventable cause of maternal mortality globally. The contribution of uterine atony to hemorrhage‐related maternal mortality has decreased in France, while the contribution of other causes of obstetric hemorrhage such as surgical injury during cesarean has been reported to increase. However, little evidence exists regarding the risk factors and care processes of women who died from this cause of hemorrhage. Therefore, we aimed to describe the clinical profile, underlying mechanisms, and preventability factors among women who died from obstetric hemorrhage by surgical injury during cesarean section. Material and Methods: Nationwide analysis of all hemorrhage‐related maternal deaths by surgical injury during cesarean in France identified by the nationwide permanent enhanced maternal mortality surveillance system (ENCMM) between 2007 and 2018. We described the characteristics of the women, delivery hospitals, circumstances of hemorrhage, features of obstetric and resuscitation/transfusion care, and main preventability factors. Results: Between 2007 and 2018, hemorrhage‐related maternal mortality in France decreased from 1.6/100 000 live births (95% CI 1.1–2.2) (39/2 472 650) in 2007–2009 to 0.8/100 000 live births (95% CI 0.5–1.3) (19/2 311 783) in 2016–2018. Hemorrhage‐related maternal mortality ratio due to surgical injury during cesarean increased from 0.08 (95% CI 0.01–0.3) (2/2 472 650) to 0.2 (95% CI 0.07–0.5) (5/2 311 783) per 100 000 live births. Among the 18 women who died from surgical injury during cesarean over the 12‐year study period, we report a high prevalence of obesity (67%, 12/18), previous cesarean (72%, 13/18), and second‐stage cesareans (56%, 10/18). In 22% (4/18), cesarean section was performed in a hospital providing <1000 births annually, with no blood bank (39%, 7/18) or no adult intensive care (44%, 8/18) on‐site. Overall preventability of deaths was 94% (17/18). Main preventability factors were related to delay in hemorrhage diagnosis (77%, 14/18) due to late recognition of abnormal parameters (33%, 6/18) and late bedside ultrasound (56%, 10/18), and delay in management due to insufficient surgical skills (56%, 10/18). Conclusions: In France, surgical injury during cesarean section is an increasing, largely preventable contributor to hemorrhage‐related maternal mortality, as other causes of fatal hemorrhage have become less frequent. The profile of these women showed a high prevalence of obesity, previous cesarean, second‐stage cesarean, and delivery in hospitals with limited medical and surgical resources, which suggests explanatory mechanisms for the fatal outcome and opportunities for prevention. [ABSTRACT FROM AUTHOR]

The article presents a case study of an 18-year-old male with adrenal insufficiency, characterized by dizziness, shortness of breath, and weight loss. Topics discussed include the diagnosis of primary adrenal insufficiency, treatment with glucocorticoids and mineralocorticoids, and the importance of screening for additional autoimmune endocrine disorders.

VEXAS syndrome is a recently described entity characterized by systemic inflammatory and hematologic manifestations. The disease was first characterized by Beck et al. in 2020 in a study characterizing 25 patients with undiagnosed adult-onset inflammatory syndromes. While the literature regarding VEXAS syndrome has grown exponentially since 2020, there is still much to be understood. This lack of information leads to challenges in both the diagnosis and treatment of patients with VEXAS syndrome. Patients will often have a variety of clinical symptoms that can lead to missed or delayed diagnoses. Additionally, awareness of VEXAS syndrome is still developing among clinicians. In this comprehensive review, we summarize the current literature regarding VEXAS syndrome, and explore clinical updates of this emerging disease state. Our aim of this review is to increase awareness regarding this new disease state and identify research areas to better understand future treatment approaches for patients with VEXAS syndrome. [ABSTRACT FROM AUTHOR]

The proportion of new HIV diagnoses among older adults aged ≥50 years continues to rise. Older adults are at higher risk of late diagnosis which is associated with higher treatment complexity and poorer health outcomes. Few studies in the Asia-Pacific region have explored factors contributing to late presentation and diagnosis in this population. Thus, our study aimed to explore factors influencing late HIV diagnosis among older adults ≥50 years in Malaysia. We conducted in-depth interviews with 16 older adults newly diagnosed with HIV (OPLWH) and focus group discussions with seven healthcare providers (HCPs) from different specialties in an academic tertiary hospital in Malaysia. All sessions were audio-recorded, transcribed verbatim and analysed thematically. Three main themes related to late diagnosis among OPLWH emerged: (1) challenge in recognizing HIV symptoms among older persons, (2) older persons and HCPs having low index of suspicion of HIV and (3) poor acceptance of HIV testing among older persons due to perceived personal and social identities. HCPs often missed HIV symptoms and these collectively culminated in OPLWH experiencing complex diagnostic journeys resulting in late HIV diagnosis. To reduce delays in HIV diagnosis, strategies are needed to improve HIV knowledge and risk perception among both older adults and HCPs. [ABSTRACT FROM AUTHOR]

The aim of this study was to determine the prevalence of restless leg syndrome (RLS) among patients with SLE, describe their clinical characteristics, examine its impact on health-related quality of life (HRQoL), and evaluate its association with depression. A total of 124 SLE patients were recruited, with data on demographics, and clinical features collected. RLS diagnosis was based on the international RLS study group criteria, while depression was assessed by the patient health questionnaire. HRQoL was assessed by a disease-specific validated questionnaire, the LupusQoL, pain intensity was examined through the pain visual analogue scale, and disease activity was evaluated via the patient global assessment. These variables were compared between SLE patients with RLS and without RLS using t-tests or Wilcoxon and the chi-square test of independence for categorical variables. A p-value ≤0.05 was considered statistically significant. Among the SLE patients (mean age 48, 87.1 % women), 32 % had RLS. The SLE patients with RLS were found to have a longer delay in diagnosis (1 vs 0.5 years; p = 0.019) and were less likely to be employed (65 % vs 45 %, p = 0.040) compared to non-RLS patients. In addition, RLS patients were more likely to have coexisting Major Depressive Disorder (MDD) (p = 0.019), higher levels of pain (p = 0.006) and disease activity based on patient global assessment (p = 0.014). Further, most of the domains of LupusQoL were significantly lower in the RLS patients group suggesting a worse HRQoL. RLS was present in one-third of the SLE cohort, significantly impairing HRQoL and correlating with depression, higher pain, and increased disease activity. These findings underscore the importance of early RLS detection and management in SLE patients. • RLS is prevalent among patients with SLE and occurs more frequently than in the general population. • RLS independently contributes to a reduced quality of life in SLE patients. • RLS in SLE patients is linked to increased depressive symptoms, higher pain levels, and greater disease activity. • Screening for sleep-related comorbidities, particularly RLS, is essential in SLE patients. [ABSTRACT FROM AUTHOR]

Objectives: Endometriosis is a chronic condition in which tissue resembling the endometrium grows outside of the womb, causing severe chronic pain. Research demonstrates the physical, emotional and quality of life impact on people with endometriosis, but pain is reportedly difficult to communicate, resulting in lengthier diagnosis. This work aimed to gain insight into the value of imagery production as a pain communication strategy through a novel synergy of psychological and linguistic/socio‐semiotic approaches. Design: A qualitative, multimodal, participant‐generated imagery study. Methods: Interpretative phenomenological analysis (IPA) and conceptual metaphor and metonymy analysis were utilized to examine visual representations of endometriosis pain. Data were collected in two focus groups with four and six women, respectively; all with a diagnosis of endometriosis, aged 25–40 years old (M = 34.5, SD = 4.2) and a mean diagnosis delay of 8.4 years (SD = 3.6). Results: The overarching theme across visual representations was 'Pain as Physical Violence' with 'colour as emotional representation', 'texture as sensory qualities' and 'materials as sensation' as sub‐themes. These are realized through metaphorical and metonymical relations in both the visual representations as well as the accompanying linguistic representation of the process. Conclusions: This study demonstrates the value of a creative mixed‐methodologies approach to capture experiential aspects of pain and its impact that are not verbalized in linguistic accounts alone. This can facilitate a deeper understanding of one's pain, acting as a medium for therapeutic adjustment to occur, while facilitating effective and empathic patient–professional conversations surrounding pain. [ABSTRACT FROM AUTHOR]

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) is an idiosyncratic severe cutaneous adverse reaction that may be potentially life‐threatening. Recently, a simple scoring system for the early screening of DRESS patients was derived by combining hsCRP levels, the eosinophil count, and the total body surface area (CET score). The objectives of this study were validating the CET score, and calculating its lead time advantage and cost‐benefits compared to RegiSCAR scoring. Methods: This is a prospective observational case‐control study, where 110 consecutive patients diagnosed with drug‐induced maculopapular exanthema (MPE) were recruited during the 18 months of the study period. Patients were classified as cases (DRESS) and controls (MPE) using RegiSCAR score cut‐off 2 (possible DRESS). They were also simultaneously screened using the CET score, based on which patients were classified as positive or negative. They were subsequently followed up on Day 15 for a second comparison and assessment of lead time and at 3 and 6 weeks to evaluate clinical response. Results: Seventy cases and 40 controls were recruited. At a cut‐off of >2.12, the CET score had a sensitivity of 94.3%, a specificity of 60%, a positive predictive value (PPV) of 80.5%, and a negative predictive value (PPV) of 85.7%. The median delay in diagnosing DRESS using RegiSCAR was around 14.5 hours. There was a median cost benefit of 12.1 USD in favor of the CET score. Conclusions: The CET score had good diagnostic performance in screening DRESS patients with a lead time of 14.5 hours and fewer costs incurred. [ABSTRACT FROM AUTHOR]

Objectives: Amyotrophic Lateral Sclerosis (ALS) diagnosis can take 10–16 months from symptom onset, leading to delays in treatment and patient counselling. We studied the impact of clinical and genetic risk factors on the diagnostic timeline of ALS. Methods: Baseline characteristics, family history, gene testing, onset location, time from symptom onset to diagnosis, and time from first doctor visit to suspected ALS was collected. We used multiple regression to assess the interaction of these factors on ALS diagnostic timeline. We analysed a subgroup of patients with genetic testing and compared positive or negative tests, sporadic or familial and ALS-related genes to time for diagnosis. Results: Four hundred and forty-eight patients diagnosed with ALS at the University of Massachusetts Chan Medical Center between January 2007 and December 2021 were analysed. The median time to ALS diagnosis was 12 months and remained unchanged from 2007 to 2021 (p = 0.20). Diagnosis was delayed in patients with sporadic compared with familial ALS (mean months [standard deviation], 16.5[13.5] and 11.2[8.5], p < 0.001); cognitive onset (41[21.26]) had longer time to diagnosis than bulbar (11.9[8.2]), limb (15.9[13.2]), respiratory (19.7[13.9]) and ALS with multiple onset locations (20.77[15.71], p < 0.001). One hundred and thirty-four patients had gene testing and 32 tested positive (23.8%). Gene testing (p = 0.23), a positive genetic test (p = 0.16), different ALS genes (p = 0.25) and sporadic (p = 0.92) or familial (p = 0.85) ALS testing positive for ALS genes did not influence time to diagnosis. Discussion: Time for ALS diagnosis remained unchanged from 2007 to 2021, bulbar-onset and familial ALS made for faster diagnosis. [ABSTRACT FROM AUTHOR]

Background and Aims: Italy has the greatest burden of hepatitis C virus (HCV) infection in Western Europe. The screening strategy represents a crucial prevention tool to achieve HCV elimination in Italy. We evaluated the cost-consequences of different screening strategies for the diagnosis of HCV active infection in the birth cohort 1948–1968 to achieve the HCV elimination goal. Methods: We designed a probabilistic model to estimate the clinical, and economic outcomes of different screening coverage uptakes, considering the direct costs of HCV management according to each liver fibrosis stage, in the Italian context. A decision probabilistic tree simulates 4 years of HCV testing of the 1948–1968 general population birth cohort, (15,485,565 individuals to be tested) considering different coverage rates. A No-screening scenario was compared with two alternative screening scenarios that represented different coverage rates each year: (1) Incremental approach (coverage rates equal to 5%, 10%, 30%, and 50% at years 1, 2, 3, and 4, respectively) and (2) Fast approach (50% coverage rate at years 1, 2, 3 and 4). Overall 106,200 cases were previously estimated to have an HCV active infection. A liver disease progression Markov model was considered for an additional 6 years (horizon-time 10 years). Results: The highest increased number of deaths and clinical events are reported for the No-screening scenario (21,719 cumulative deaths at the end of ten years; 10,148 cases with HCC and/or 7618 cases with Decompensated Cirrhosis). Following the Fast-screening scenario, the reductions in clinical outcomes and deaths were higher compared with No-screening and Incremental-screening. At ten years time horizon, less than 5696 liver deaths (PSA CI95%: – 3873 to 7519), 3,549 HCC (PSA CI95%: – 2413 to 4684) and less than 3005 liver decompensations (PSA CI 95%: – 2104 to 3907) were estimated compared with the Incremental-scenario. The overall costs of the Fast-screening, including the costs of the DAA and liver disease management of the infected patients for 10 years, are estimated to be € 43,107,543 more than no-investment in screening and € 62,289,549 less compared with the overall costs estimated by the Incremental-scenario. Conclusion: It is necessary to guarantee dedicated funds and efficiency of the system for the cost-efficacious screening of the 1948–1968 birth cohort in Italy. A delay in HCV diagnosis and treatment in the general population, yet not addressed for the HCV free-of-charge screening, will have important clinical and economic consequences in Italy. [ABSTRACT FROM AUTHOR]

Key Points: Question: Is having peers with a mental disorder in the same social network during adolescence associated with later risk of mental disorder? Findings: In this cohort study including more than 700 000 individuals in Finland, analysis of nationwide, interlinked registry data found that having classmates diagnosed with a mental disorder in the ninth grade of comprehensive school was associated with increased risk of receiving a mental disorder diagnosis later in life. Increased risk remained after adjusting for an array of parental, school-level, and area-level confounders. Meaning: The findings of this study suggest that mental disorders might be socially transmitted within adolescent peer networks. Importance: Previous research indicates that mental disorders may be transmitted from one individual to another within social networks. However, there is a lack of population-based epidemiologic evidence that pertains to the full range of mental disorders. Objective: To examine whether having classmates with a mental disorder diagnosis in the ninth grade of comprehensive school is associated with later risk of being diagnosed with a mental disorder. Design, Setting, and Participants: In a population-based registry study, data on all Finnish citizens born between January 1, 1985, and December 31, 1997, whose demographic, health, and school information were linked from nationwide registers were included. Cohort members were followed up from August 1 in the year they completed ninth grade (approximately aged 16 years) until a diagnosis of mental disorder, emigration, death, or December 31, 2019, whichever occurred first. Data analysis was performed from May 15, 2023, to February 8, 2024. Exposure: The exposure was 1 or more individuals diagnosed with a mental disorder in the same school class in the ninth grade. Main Outcomes and Measures: Being diagnosed with a mental disorder during follow-up. Results: Among the 713 809 cohort members (median age at the start of follow-up, 16.1 [IQR, 15.9-16.4] years; 50.4% were males), 47 433 had a mental disorder diagnosis by the ninth grade. Of the remaining 666 376 cohort members, 167 227 persons (25.1%) received a mental disorder diagnosis during follow-up (7.3 million person-years). A dose-response association was found, with no significant increase in later risk of 1 diagnosed classmate (HR, 1.01; 95% CI, 1.00-1.02), but a 5% increase with more than 1 diagnosed classmate (HR, 1.05; 95% CI, 1.04-1.06). The risk was not proportional over time but was highest during the first year of follow-up, showing a 9% increase for 1 diagnosed classmate (HR, 1.09; 95% CI, 1.04-1.14), and an 18% increase for more than 1 diagnosed classmate (HR, 1.18; 95% CI, 1.13-1.24). Of the examined mental disorders, the risk was greatest for mood, anxiety, and eating disorders. Increased risk was observed after adjusting for an array of parental, school-level, and area-level confounders. Conclusions and Relevance: The findings of this study suggest that mental disorders might be transmitted within adolescent peer networks. More research is required to elucidate the mechanisms underlying the possible transmission of mental disorders. This cohort study examines the transmission of mental disorders among adolescents observed in follow-up after school exposure to 1 or more classmates diagnosed with a mental disorder. [ABSTRACT FROM AUTHOR]

Background: The causes for delays during the COVID19 pandemic and their impact on head and neck cancer (HNC) diagnosis and staging are not well described. Methods: Two cohorts were defined a priori for review and analysis—a Pre‐Pandemic cohort (June 1 to December 31, 2019) and a Pandemic cohort (June 1 to December 31, 2020). Delays were categorized as COVID‐19 related or not, and as clinician, patient, or policy related. Results: A total of 638 HNC patients were identified including 327 in the Pre‐Pandemic Cohort and 311 in the Pandemic Cohort. Patients in the Pandemic cohort had more N2‐N3 category (41% vs. 33%, p = 0.03), T3‐T4 category (63% vs. 50%, p = 0.002), and stage III‐IV (71% vs. 58%, p < 0.001) disease. Several intervals in the diagnosis to treatment pathway were significantly longer in the pandemic cohort as compared to the Pre‐Pandemic cohort. Among the pandemic cohort, 146 (47%) experienced a delay, with 112 related to the COVID‐19 pandemic; 80 (71%) were clinician related, 15 (13%) were patient related, and 17 (15%) were policy related. Conclusions: Patients in the Pandemic cohort had higher stage disease at diagnosis and longer intervals along the diagnostic pathway, with COVID‐19 related clinician factors being the most common cause of delay. [ABSTRACT FROM AUTHOR]

This systematic review aims to identify the diagnostic accuracy of posterior circulation stroke (PCS) by paramedics and the causes and duration of delay in its recognition. A systematic search using CINAHL Plus, MEDLINE, Scopus, and PubMed was performed. All databases were searched up to May 25, 2022. Studies were included where patients were adults, assessed by paramedics, and PCS was the primary diagnosis. Bias was assessed using the Newcastle-Ottawa Scale and the Effective Practice and Organization of Care tool. Results have been described by proportions, and both sensitivity calculations and subgroup analysis were performed utilizing MedCalc. A total of 797 titles/abstracts and a subsequent 87 full texts were screened, of which 15 were included. There were 5395 patients who were assessed by paramedics and had a confirmed diagnosis of PCS. Among five studies containing both true positive and false negative data, there were 98 (45.8%) true positives. PCS patients lost an average of 27 min (p < 0.001) compared to anterior stroke patients in the prehospital setting. One study revealed that educational intervention, including implementing the finger-to-nose test, increased the sensitivity for diagnosis from 45.8 to 74.1% (p = 0.039) and decreased the time from door to computed tomography from 62 to 41 min (p = 0.037). There is a substantial lack of evidence regarding the diagnosis of PCS by paramedics. Despite the low quality of evidence available, overall, the sensitivity for paramedic PCS diagnosis appears to be poor. Further investigation is required into paramedics' diagnosis of PCS and the use of educational interventions. Prospective Register of Systematic Reviews Registration Number: CRD42022324675. [ABSTRACT FROM AUTHOR]

After birth, healthy neonates undergo a period of altered glucose metabolism, known as "transitional hypoglycemia." During the first 0 to 4 hours of life, the mean plasma glucose concentration decreases to 57 mg/dL, then by 72 to 96 hours of life increases to 82 mg/dL, well within the normal adult range. Recent data suggest that transitional hypoglycemia is due to persistence of the fetal beta cell's lower threshold for insulin release, resulting in a transient hyperinsulinemic state. While hypoglycemia is an expected part of the transition to postnatal life, it makes the identification of infants with persistent hypoglycemia disorders challenging. Given the risk of neurologic injury from hypoglycemia, identifying these infants is critical. Hyperinsulinism is the most common cause of persistent hypoglycemia in neonates and infants and carries a high risk of neurocognitive dysfunction given the severity of the hypoglycemia and the inability to generate ketones, a critical alternative cerebral fuel. Screening neonates at risk for persistent hypoglycemia disorders and completing evaluations prior to hospital discharge is essential to prevent delayed diagnoses and neurologic damage. [ABSTRACT FROM AUTHOR]

Objective: To determine the diagnostic accuracy of thoracic ultrasound (TUS) for detecting interstitial lung disease (ILD) in rheumatoid arthritis (RA) with respiratory symptoms. Methods: Individuals with RA visiting rheumatologic outpatient clinics in the Region of Southern Denmark were systematically screened for dyspnea, cough, recurrent pneumonia, prior severe pneumonia, or a chest x‐ray indicating interstitial abnormalities. Eighty participants with a positive screening were consecutively included. Individuals were not eligible if they had a chest high‐resolution computed tomography (HRCT) less than 12 months ago or were already diagnosed with ILD. A blinded TUS expert evaluated TUS, and TUS was registered as positive for ILD if at least 10 B‐lines or bilateral thickened and fragmented pleura were present. The primary outcomes were TUS's sensitivity, specificity, and positive predictive value and negative predictive value. An ILD‐specialized thoracic radiologist assessed HRCT, followed by a multidisciplinary team discussion, which was the reference standard. The accepted window of HRCT was less than 30 days after TUS was performed. Results: A total of 77 participants received HRCT less than 30 days after TUS, and 23 (30%) were diagnosed with ILD. TUS had a sensitivity of 82.6% (95% confidence interval [CI] 61.2%–95.0%) and a specificity of 51.9% (95% CI 37.8%–65.7%), corresponding to a positive predictive value of 42.2% (95% CI 27.7%–57.8%) and a negative predictive value of 87.5% (95% CI 71.0%–96.5%). Conclusion: To our knowledge, this prospective study is the first to use respiratory symptoms in RA as inclusion criteria. Systematic screening for respiratory symptoms combined with TUS can reduce the diagnostic delay of ILD in RA. [ABSTRACT FROM AUTHOR]

Background: Craniosynostosis and positional plagiocephaly (PP) both lead to deformities of the infant skull. In some cases, patients may present with concurrent craniosynostosis and PP. The forces exerted on the skull by both conditions can complicate and delay correct diagnosis and require adjustments to surgical planning. Objective: The purpose of this scoping review was to identify and analyze the existing peer-reviewed literature covering the diagnosis and treatment of concurrent craniosynostosis and PP. Design: In accordance with PRISMA guidelines, PubMed, MEDLINE, and EMBASE were searched for articles discussing concurrent diagnoses of craniosynostosis and PP. Results: Out of 633 articles discovered, 7 met inclusion criteria and discussed a cumulative total of 10 patients. The average age of referral to a craniofacial team was 17 ± 22.2 months. The most common reason for referral was craniofacial asymmetry (90%, n = 9). 40% presented with unilateral coronal synostosis (n = 4), 40% with lambdoid synostosis (n = 4), 10% with sagittal synostosis (n = 1), and 10% with metopic synostosis (n = 1). The most commonly reported clinical features were occipital flattening (90%, n = 9), ear displacement (80%, n = 8), and frontal bossing (30%, n = 3). Delayed or incorrect initial diagnosis was noted in 70% (n = 7) of patients. CT scan was the most commonly employed diagnostic tool, utilized in 100% of patients. 70% of patients (n = 7) underwent surgery at an average age of 6.75 ± 3 months. Two studies, accounting for 2 patients reported, noted altering their surgical technique to account for PP in addition to the synostotic suture. Conclusions: Coincident craniosynostosis and PP can pose a complicated diagnostic and therapeutic challenge. An in-depth understanding of the most reliable physical exam findings associated with each type of craniosynostosis combined with PP will facilitate accurate diagnosis. Consideration of the concurrent forces on the skull created by craniosynostosis and PP aid in the design of a tailored surgical plan. [ABSTRACT FROM AUTHOR]

BackgroundCase descriptionOutcomesConclusionInflammatory conditions often mimic musculoskeletal presentations, causing diagnostic delays in primary and secondary care. Physiotherapists can play a pivotal role in the early recognition, triage, and onward referral for inflammatory conditions such as polymyalgia rheumatica (PMR). While PMR is relatively rare, recognition of its characteristic presentation, alongside elevated serum inflammatory markers, is a much-needed step to initiate appropriate intervention following specialized rheumatological consultation.This case details the assessment and diagnosis of a 62-year-old male referred to a secondary care spine center for persisting bilateral buttock pain presumed to be of spinal origin. A thorough initial evaluation by an orthopedic-triage physiotherapist raised the suspicion of PMR upon identification of the following salient inflammatory features: sudden onset of bilateral buttock and shoulder pain and stiffness, morning stiffness lasting one hour, pain aggravated by prolonged inactivity, and a positive response to non-steroidal anti-inflammatory medication.Further investigations revealed elevated inflammatory markers warranting prompt rheumatology consultation and subsequently confirming the diagnosis of PMR. Early initiation of high dose oral corticosteroid therapy resulted in immediate relief of pain and associated symptoms.This case highlights the significance of recognizing salient inflammatory features in persistent musculoskeletal complaints, particularly in the context of the evolving scope of physiotherapy roles internationally. While further investigations and rheumatological consultation are required for the definitive diagnosis of many inflammatory conditions, including PMR, greater clinician awareness of salient inflammatory features can aid the earlier identification and subsequent triage of such cases. [ABSTRACT FROM AUTHOR]

The spatial delays of pulmonary tuberculosis (PTB) have been less explored. In this study, a total of 151,799 notified PTB cases were included, with median patient and diagnostic delays of 15 [interquartile range (IOR), 4–35] and 2 (IOR, 0–8) days, respectively. The spatial autocorrelation analysis and spatial–temporal scan statistics were used to determine the clusters, indicating that the regions in the southwestern and northeastern parts of Zhejiang Province exhibited high rates of long-term patient delay (LPD, delay ≥ 15 days) and long-term diagnostic delay (LDD, delay ≥ 2 days). Besides, the Mantel test indicated a moderately positive correlation between public awareness of suspicious symptoms and the LPD rate in 2018 (Mantel's r = 0.4, P < 0.05). These findings suggest that PTB delays can reveal deficiencies in public health education and the healthcare system. Also, it is essential to explore methods to shift PTB knowledge towards real changes in attitude and behavior to minimize patient delay. Addressing these issues will be crucial for improving public health outcomes related to PTB in Zhejiang Province. [ABSTRACT FROM AUTHOR]

Background: Fatty acid oxidation defects are rare autosomal recessive disorders with variable clinical manifestations and outcome. Early detection by systematic neonatal screening may improve their prognosis. Long-term outcome studies of these disorders in the Middle East and North Africa region are limited. The purpose of this study is to report the diagnostic challenges and outcome of fatty acid oxidation defects in a major tertiary care center in Lebanon, a resource-constrained country in the Middle East. Methods: A retrospective review of charts of all fatty acid oxidation defects sequential patients diagnosed and followed at our center was conducted. Collected data included: parental consanguinity, age at diagnosis, clinical presentation, biochemical profile, confirmatory diagnosis, treatment and outcome. A genotype–phenotype correlation was also performed, when available. Results: Seven types of fatty acid oxidation defects were identified in a total of 34 patients from 21 families. Most families (79%) were consanguineous (first-degree cousins). The majority were diagnosed when clinically symptomatic (78%), at various ages between 10 days and 19 years (average: 2 years). Follow-up duration spanned between 2 months and 15 years (average: 5 years). The remainder of the patients were detected while still asymptomatic by systematic neonatal screening (9%) or due to positive family history (9%). The most common defect was carnitine transporter deficiency (50%) with an exclusive cardiac presentation related to a founder variant c.981C > T, (p.Arg254*) in the SLC22A5 gene. Medium chain acyl-CoA dehydrogenase deficiency was found in 13% only, which could be explained by the absence of systematic neonatal screening. Rare gene variants were detected in very long chain and multiple acyl-CoA dehydrogenase deficiency. The worse prognosis was observed in very long chain acyl-CoA dehydrogenase deficiency. The overall survival at last follow-up reached 75% with a complete reversal of symptoms with treatment in most patients (63%), despite their late diagnosis. Conclusions: Our experience highlights the diagnostic challenges and outcome of fatty acid oxidation defects in a resource-constrained country with high consanguinity rates. Physicians' awareness and systematic neonatal screening are key for diagnosis. Larger genotype–phenotype studies are still needed to understand the natural history of these rare diseases and possibly improve their outcome. [ABSTRACT FROM AUTHOR]

Objectives: The COVID-19 pandemic, while putting pressure on the global healthcare system, has had a significant impact on the prevention, diagnosis, and treatment of cervical cancer. The aim of this study is to provide an overview of the challenges and opportunities presented to cervical cancer during the COVID-19 pandemic and to provide lessons for better coping with cervical cancer in future pandemics. Methods: The search terms included the following: SARS-CoV-2 and/or COVID-19 with cervical cancer and HPV. The initial literature search began on June 1, 2022 and ended on March 1, 2023. Outcome: COVID-19 has hindered the cervical cancer screening, delayed the diagnosis and treatment of cervical cancer, increased the public's anxiety, and negatively affected the management of cervical cancer. However, the occurrence of COVID-19 pandemic has promoted the development of new human papillomavirus (HPV) tests and improved the rates of HPV self-sampling, offering a small window of opportunity to eliminate cervical cancer. Conclusions: In the next few years, the COVID-19 pandemic will come to an end, and the eradication of cervical cancer should always be carried out. We should draw lessons and experience from this global pandemic, and make efforts for the subsequent eradication of cervical cancer. [ABSTRACT FROM AUTHOR]

The progress of cancer treatment methods in the last decade has significantly reduced mortality rate among these patients. Nevertheless, cancer is still recognized as one of the main causes of human deaths. One of the main reasons for the high death rate in cancer patients is the late diagnosis in the advanced tumor stages. Therefore, it is necessary to investigate the molecular biology of tumor progressions in order to introduce early diagnostic markers. MicroRNAs (miRNAs) have an important role in regulating cellular processes associated with tumor progression. Due to the high stability of miRNAs in body fluids, they are widely used as non-invasive markers in the early tumor diagnosis. Since, deregulation of miR-98 has been reported in a wide range of cancers, we investigated the molecular mechanisms of miR-98 during tumor progression. It has been reported that miR-98 mainly inhibits the tumor growth by the modulation of transcription factors and signaling pathways. Therefore, miR-98 can be introduced as a tumor marker and therapeutic target among cancer patients. [ABSTRACT FROM AUTHOR]

Background: Lung cancer is the most common cause of cancer death worldwide and poses an immediate health threat. Despite decades of basic and clinical research, the 5-year survival rate for lung cancer patients is less than 10%.The most important drawbacks in efficient treatment of lung cancer are delayed diagnosis and absence of effective screening. Detection and study of precancerous lesions of the bronchial mucosa might be one of the turning points in understanding of neoplastic transformation. Therefore, it would be the most effective prevention and early treatment modality. We report a case of high-grade intraepithelial neoplasia of the bronchial mucosa in which a neoplastic growth in the lumen of intrinsic segment in the upper lobe of the left lung was detected on electronic bronchoscopy, and biopsy confirmed squamous papillary hyperplasia with high-grade intraepithelial neoplasia. Case presentation: A 74-year-old male was admitted to the hospital due to a mass lesion in his left lung. After admission, computed tomography scan of the chest showed an intraluminal mass in the intrinsic segment of the upper lobe of the left lung and an enlarged left hilum. Conclusions: High-grade intraepithelial neoplasia of the bronchial mucosa is rare in the respiratory system. We report a case that can provide useful information for early diagnosis and treatment of the disease. [ABSTRACT FROM AUTHOR]

Mycetoma profoundly affects marginalised communities, especially in impoverished and remote areas with limited access to healthcare. This chronic and debilitating inflammatory disease highlights the typical issues of neglected tropical diseases (NTDs), such as insufficient attention, funding, and resources, which perpetuate neglect and suffering. Patients often delay seeking medical help, leading to advanced disease stages, severe complications, and lasting disabilities. The lack of medical infrastructure and skilled healthcare professionals worsens the situation, causing delays in diagnosis and inadequate treatment. Engaging affected communities in tailored interventions is essential to tackle these challenges, promote collaboration, raise awareness, and mobilise resources to improve healthcare access and enhance diagnostic and treatment capabilities. Since 1991, the Mycetoma Research Center (MRC) at the University of Khartoum, Sudan, has led community engagement initiatives aimed at improving the quality of life for mycetoma-affected individuals through education, advocacy, and local collaboration. In this communication, the MRC shares its extensive experience in community engagement to benefit mycetoma-affected communities. [ABSTRACT FROM AUTHOR]

Background: Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. Case presentation: We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs and trunk, dysarthria, and heart failure. Electromyography indicated myogenic changes, and muscle biopsy results revealed characteristics of lipid storage myopathy. Genetic analysis of PNPLA2 revealed two heterozygous mutations: c.757 + 1G > T (chr11-823588, splice-5) on intron 6 and c.919delG (chr11-823854, p.A307Pfs*13) on exon 7. The patient improved limb strength, and dysarthria disappeared after the Medium Chain Fatty Acids diet. Conclusions: In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy. [ABSTRACT FROM AUTHOR]

AbstractLimited information is available regarding the experiences and perspectives of LGBTQIA + patients internationally, and no literature exists for New Zealand. Twenty-eight LGBTQIA + endometriosis patients took part in asynchronous, online text-based discussions about their experiences navigating endometriosis diagnosis and management in Aotearoa New Zealand. Their qualitative responses were coded in an iterative thematic manner. The mean delay to diagnosis of this cohort was 10.2 ± 5.6 years from symptom onset, longer than previously reported delays in Aotearoa New Zealand. Participants shared a strong discomfort with the predominant focus of endometriosis management strategies on penetrative sex and pregnancy, and the sense they were dismissed if prioritising these functions was not their priority. Several potential improvements to current treatment and care for LGBTQIA + endometriosis patients were generally agreed upon by the cohort, including research to better understand a practice approach for managing the symptoms of transmasculine patients; expanding the management strategies for patients who are not prioritising fertility and penetrative sex; improving awareness of LGBTQIA + people and experiences amongst medical practitioners to reduce homophobia, transphobia, misogyny, misgendering and mistreatment in care; and the development of gender-neutral spaces for the support of patients who feel uncomfortable in cisgender women-centric endometriosis spaces. [ABSTRACT FROM AUTHOR]

Bullous pemphigoid (BP) is an autoimmune blistering disease primarily affecting the elderly, whereas cases of juvenile BP are rare. Both types of BP are typically mediated by autoantibodies targeting the NC16A region of BP180; however, a small subset of adult patient sera react to other regions of the protein. The incidence of a similar occurrence in juvenile BP is unknown. This case of juvenile BP with a negative BP180 ELISA highlights diagnostic pitfalls that can lead to a delay in the correct diagnosis in the pediatric population. [ABSTRACT FROM AUTHOR]