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BACKGROUND AND PURPOSE: Patients presenting at the emergency room (ER) with headache often encounter a hostile atmosphere and experience delays in diagnosis and treatment. The aim of this study was to design a protocol for the ER with the goal of optimizing the care of patients with urgent headache to facilitate diagnosis and expedite treatment. METHODS: A narrative literature review was conducted via a MEDLINE search in October 2021. The "Code Headache" protocol was then developed considering the available characteristics and resources of the ER at a tertiary care center within the Spanish National Public Health system. RESULTS: The Code Headache protocol comprises three assessments: two scales and one checklist. The assessments identify known red flags and stratify patients based on suspected primary/secondary headaches and the need for pain treatment. Initial assessments, performed by the triage nurse, aim to first exclude potentially high morbidity and mortality etiologies (HEAD1 scale) and then expedite appropriate pain management (HEAD2 scale) based on scoring criteria. HEAD1 evaluates vital signs and symptoms of secondary serious headache disorders that can most benefit from earlier identification and treatment, while HEAD2 assesses symptoms indicative of status migrainosus, pain intensity, and vital signs. Subsequently, ER physicians employ a third assessment that reviews red flags for secondary headaches (grouped under the acronym 'PEACE') to guide the selection of complementary tests and aid diagnosis. CONCLUSIONS: The Code Headache protocol is a much needed tool to facilitate quick clinical assessment and improve patient care in the ER. Further validation through comparison with standard clinical practice is warranted.

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BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain. METHODS: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment. Clinical and demographical data, TTR gene mutations, red flags anamnesis, neurological and cardiological assessments were collected. RESULTS: The mean age of patients was 56.8 years at onset and 58.6 years at diagnosis; 53% of patients and 51% of AC were from non-endemic areas. Val50Met was the most frequent mutation in both groups. Neuropathy impairment score data (mean 17.7 ± 20.5) and small-fibre function in lower limbs assessed with SUDOSCAN revealed that patients were diagnosed at early stages of neurological impairment. Peripheral polyneuropathy (84.2%), autonomic neuropathy (73.7%), cardiac (63.2%) and gastrointestinal (47.4%) alterations were the most common symptoms in patients. Autonomic neuropathy, gastrointestinal impairment, carpal tunnel syndrome, cardiac and ocular alterations were potentially related to ATTRv in the AC group. CONCLUSIONS: The EMPATIa study provides a detailed description of AC and Coutinho stage 1 ATTRv patients across Spain, confirming the multisystemic clinical profile of the disease. This study reveals a diagnosis delay around 1.8 years, highlighting the importance of a profound disease awareness to reach a diagnose in earlier stages of neurological impairment.

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Neuropatías Amiloides Familiares , Prealbúmina , Humanos , Neuropatías Amiloides Familiares/genética , Persona de Mediana Edad , Masculino , Femenino , España , Estudios Transversales , Prealbúmina/genética , Anciano , Mutación/genética , Adulto

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AIM: Increased diagnostic awareness and specific disease treatments have changed the landscape of transthyretin cardiac amyloidosis (ATTR). Patients with wild-type ATTR (ATTRwt) are increasingly being diagnosed, potentially changing the clinical profile and prognosis compared with existing retrospective data. We aimed to study the clinical characteristics, distribution of red flags and prognosis of contemporary ATTRwt patients. METHODS: From January 1st 2017, to December 31st 2022, 213 consecutive patients were diagnosed with ATTRwt and prospectively followed up. Data on clinical characteristics, biomarkers, echocardiography findings, hospitalization due to worsening heart failure (WHF) and all-cause mortality were collected. RESULTS: A 37% increase in newly diagnosed patients from 2017-2019 (n = 90) vs. 2020-2022 (n = 123) was observed. The majority of patients presented with NAC disease stage I in the latter period (49% in 2017-2019 vs. 58% in 2020-2022, p = .16). Red flags were primarily cardiac-related, including elevated NT-proBNP, impaired left ventricular longitudinal systolic strain with an apical sparing pattern, heart failure with increased left ventricular wall thickness and elevated troponins. NAC disease stage I as well as low NT-proBNP levels (<1000 ng/L) were significantly associated with better survival (both p < .001). When compared with NAC disease stage II + III combined, patients with NAC disease stage I had a significantly lower risk of WHF hospitalization or death (log rank test: p = .0001). Independent predictors of the combined endpoint WHF hospitalization or death were NT-proBNP (HR 1.03 [95% CI 1.00-1.07], p < .049) and prior implantation of permanent pacemaker (HR 2.01 [1.30-3.11], p = .002). CONCLUSION: Increased diagnostic awareness resulted in a 37% increase in newly diagnosed patients in 2020-2022 vs. 2017-2019. As expected all-cause mortality but also the morbidity in terms of risk of hospitalization with WHF were significantly lower in patients with NAC disease stage I, as well as in those with low NT-proBNP levels <1000 ng/L. These findings underline the importance of continuous attention to diagnostic awareness, as early diagnosis is critical for initiating both general and specific ATTR treatment, thus improving prognosis.

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Neuropatías Amiloides Familiares , Cardiomiopatías , Ecocardiografía , Insuficiencia Cardíaca , Péptido Natriurético Encefálico , Humanos , Masculino , Femenino , Neuropatías Amiloides Familiares/sangre , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/mortalidad , Anciano , Pronóstico , Cardiomiopatías/diagnóstico , Cardiomiopatías/sangre , Cardiomiopatías/mortalidad , Péptido Natriurético Encefálico/sangre , Persona de Mediana Edad , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/sangre , Fragmentos de Péptidos/sangre , Anciano de 80 o más Años , Estudios Prospectivos , Hospitalización/estadística & datos numéricos , Biomarcadores/sangre , Estudios Retrospectivos

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Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3-6 years. Because of the non-specificity of initial symptom manifestation and insufficient awareness among treating physicians, approximately one-third of patients with ATTRwt-CM are initially misdiagnosed with other cardiac diseases. Although heart failure (HF) is the most common initial manifestation of ATTRwt-CM, observed in nearly 70% of affected patients, patients may also present with other cardiologic symptoms, such as atrial fibrillation (AF) and aortic stenosis (AS). This non-specific and diverse nature of the initial ATTRwt-CM presentation indicates that various cardiology subspecialties are involved in patient diagnosis and management. Standard guideline-directed pharmacological treatment for HF is not recommended for patients with ATTRwt-CM because of its limited effectiveness. However, no established algorithms are available regarding HF management in this patient population. This literature review provides an overview of the red flags for ATTRwt-CM and research findings regarding HF management in this patient population. In addition to commonly recognized red flags for ATTRwt-CM (e.g., HF, AF and severe AS), published literature identified potential red flags such as coronary microvascular dysfunction. For HF management in patients with ATTRwt-CM, the use of mineralocorticoid receptor antagonists (MRAs) was reported as a well-tolerated option associated with a low discontinuation rate and reduced mortality. Although there is no concrete evidence for recommendations against sodium-glucose cotransporter 2 inhibitor (SGLT2i) administration, research supporting its use is limited to small-scale studies. Robust evidence is lacking for AF ablation, implantable cardioverter-defibrillators and cardiac resynchronization therapy. Based on the published findings and our clinical experience as Japanese ATTRwt-CM experts, red-flag symptom clusters for each cardiology specialty (HF, arrhythmia and ischaemia/structural heart disease) and a treatment scheme for HF management are presented. As this research area remains at an exploratory stage, our observations would require further discussion among experts worldwide.

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BACKGROUND: Low back pain (LBP) is a prevalent healthcare concern that is frequently responsive to conservative treatment. However, it can also stem from severe conditions, marked by 'red flags' (RF) such as malignancy, cauda equina syndrome, fractures, infections, spondyloarthropathies, and aneurysm rupture, which physicians should be vigilant about. Given the increasing reliance on online health information, this study assessed ChatGPT-3.5's (OpenAI, San Francisco, CA, USA) and GoogleBard's (Google, Mountain View, CA, USA) accuracy in responding to RF-related LBP questions and their capacity to discriminate the severity of the condition. METHODS: We created 70 questions on RF-related symptoms and diseases following the LBP guidelines. Among them, 58 had a single symptom (SS), and 12 had multiple symptoms (MS) of LBP. Questions were posed to ChatGPT and GoogleBard, and responses were assessed by two authors for accuracy, completeness, and relevance (ACR) using a 5-point rubric criteria. RESULTS: Cohen's kappa values (0.60-0.81) indicated significant agreement among the authors. The average scores for responses ranged from 3.47 to 3.85 for ChatGPT-3.5 and from 3.36 to 3.76 for GoogleBard for 58 SS questions, and from 4.04 to 4.29 for ChatGPT-3.5 and from 3.50 to 3.71 for GoogleBard for 12 MS questions. The ratings for these responses ranged from 'good' to 'excellent'. Most SS responses effectively conveyed the severity of the situation (93.1% for ChatGPT-3.5, 94.8% for GoogleBard), and all MS responses did so. No statistically significant differences were found between ChatGPT-3.5 and GoogleBard scores (p>0.05). CONCLUSIONS: In an era characterized by widespread online health information seeking, artificial intelligence (AI) systems play a vital role in delivering precise medical information. These technologies may hold promise in the field of health information if they continue to improve.

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Acute compartment syndrome (ACS) is defined by a disorder of the microcirculation due to a persistent pathological pressure increase within a muscle compartment. The ischemia of the tissue leads to an initially reversible functional impairment and finally irreversible damage of the musculature, nerves and other structures. Based on the understanding of the pathophysiology, the current diagnostic concepts and treatment using the so-called dermatofasciotomy of the affected muscle compartments can be derived. In addition to the suspicion of a possible ACS based on the medical history of the patient, the findings of the clinical examination are decisive. This review article gives a summary of all the essential aspects of the diagnostics. In clinically uncertain cases and for monitoring, an objectification of the findings using instrument-based techniques is increasingly required. Nowadays, invasive needle pressure measurement is available; however, due to limited reliability, specificity and sensitivity, these measurements only represent an aid to decision guidance supporting or advising against the indications for dermatofasciotomy. The increasing demands on making a certain diagnosis and justification of a surgical intervention from a legal point of view, substantiate the numerous scientific efforts to develop noninvasive instrument-based diagnostics. These methods are based either on detection of increasing intracompartmental pressure or decreasing perfusion pressure and microcirculation. The various measurement principles are summarized in a lucid form.

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Síndromes Compartimentales , Humanos , Síndromes Compartimentales/diagnóstico , Síndromes Compartimentales/fisiopatología , Enfermedad Aguda , Microcirculación/fisiología , Fasciotomía/métodos

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Febrile seizures (FS) are commonly perceived by healthcare professionals as a self-limited condition with a generally 'benign' nature. Nonetheless, they frequently lead to pediatric consultations, and their management can vary depending on the clinical context. For parents and caregivers, witnessing a seizure can be a distressing experience, significantly impacting their quality of life. In this review, we offer an in-depth exploration of FS management, therapeutic interventions, and prognostic factors, with the aim of providing support for physicians and enhancing communication with families. We conducted a comprehensive literature search using the PubMed and Web of Science databases, spanning the past 50 years. The search terms utilized included "febrile seizure," "complex febrile seizure," "simple febrile seizure," in conjunction with "children" or "infant." Only studies published in English or those presenting evidence-based data were included in our assessment. Additionally, we conducted a cross-reference search to identify any additional relevant data sources. Our thorough literature search resulted in a compilation of references, with carefully selected papers thoughtfully integrated into this review.

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Convulsiones Febriles , Humanos , Convulsiones Febriles/terapia , Convulsiones Febriles/diagnóstico , Niño , Lactante , Guías de Práctica Clínica como Asunto , Anticonvulsivantes/uso terapéutico , Pronóstico

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INTRODUCTION: Although a rare spinal emergency, cauda equina syndrome (CES) can result in significant physical, emotional, and psychological sequalae. Introducing a CES pathway enhances diagnosis but may increase Radiology and Orthopaedic workload. To address this, one NHS hospital in England introduced a novel CES pathway. Utilising a criteria-led pathway, patients were referred directly from community/primary care, via the Emergency Department, for an emergency MRI scan. OBJECTIVE: To compare the outcomes of patients referred via an original and redesigned Community and Primary Care CES pathway. DESIGN: A retrospective service evaluation was undertaken of all emergency MRI scans investigating suspected CES via either pathway. METHODS: Two 3-month time periods were analysed; pre-(original) and post-implementation of the redesigned pathway; time to surgery was reviewed over two 12-month periods. RESULTS: Increased MRI scan utilisation was seen following the implementation of the redesigned pathway: original n = 50, redesigned n = 128, increasing Radiology workload. However, the redesigned pathway resulted in a reduction in time to MRI from 3h:01m to 1h:02m; reduction in time spent in ED 4h:55m to 3h:24m; reduction in time to surgery 18h:05m to 13h:38m; reduction in out-of-hour scanning from 10 to 2 patients during the evaluation period; and a reduction in on-call Orthopaedic involvement by 38%. CONCLUSION: All timed outcomes were improved with the implementation of this novel pathway. This suggests expediting MRI scans can result in substantial downstream benefits; albeit while increasing MRI scan utilisation. This pathway aligns with the emergency management of suspected CES under the new national CES pathway in England.

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Síndrome de Cauda Equina , Imagen por Resonancia Magnética , Atención Primaria de Salud , Derivación y Consulta , Humanos , Estudios Retrospectivos , Síndrome de Cauda Equina/diagnóstico , Derivación y Consulta/estadística & datos numéricos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Inglaterra , Servicio de Urgencia en Hospital , Anciano , Servicios de Salud Comunitaria/métodos

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BACKGROUND: Physiotherapists must identify potential red flags that may impede recovery and function in individuals with low back pain (LBP) or put them at risk. OBJECTIVES: This study aimed to (1) investigate physiotherapists' awareness and use of red flags for individuals with LBP in Saudi Arabia and (2) identify factors associated with their awareness and use of LBP red flags. METHODS: This cross-sectional study collected data using an anonymous online questionnaire (February-July 2023). It included physiotherapists working in private/public hospitals in Saudi Arabia. The questionnaire asked about the participants' characteristics, their awareness of LBP red flags, and their use of red flags for LBP assessment. RESULTS: A total of 643 participating physiotherapists (26.2 ± 3.8 years), 63.8% of whom were females, completed the survey. Most participants (94.4%) had adequate awareness of LBP red flags, and more than half (61%) had good utilization of red flags when assessing individuals with LBP. There was a positive correlation between the physiotherapists' awareness and use of LBP red flags. CONCLUSION: The majority of the participating physiotherapists in Saudi Arabia were aware of LBP red flags, and many reported to have good use of red flags in clinical practice when assessing and managing individuals with LBP.

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Dolor de la Región Lumbar , Fisioterapeutas , Humanos , Dolor de la Región Lumbar/diagnóstico , Arabia Saudita , Femenino , Estudios Transversales , Masculino , Adulto , Encuestas y Cuestionarios/normas , Conocimientos, Actitudes y Práctica en Salud

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In recent years, the interest in cardiac amyloidosis has grown exponentially. However, there is a need to improve our understanding of amyloidosis in order to optimise early detection systems. Therefore, it is crucial to incorporate solutions to improve the suspicion, diagnosis and follow-up of cardiac amyloidosis. In this sense, we designed a tool following the different phases to reach the diagnosis of cardiac amyloidosis, as well as an optimal follow-up: a) clinical suspicion, where the importance of the "red flags" to suspect it and activate the diagnostic process is highlighted; 2) diagnosis, where the diagnostic algorithm is mainly outlined; and 3) follow-up of confirmed patients. This is a practical resource that will be of great use to all professionals caring for patients with suspected or confirmed cardiac amyloidosis, to improve its early detection, as well as to optimise its accurate diagnosis and optimal follow-up.

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Amiloidosis , Cardiomiopatías , Humanos , Amiloidosis/diagnóstico , Amiloidosis/terapia , Cardiomiopatías/diagnóstico , Cardiomiopatías/terapia , Algoritmos , Cardiopatías/diagnóstico , Cardiopatías/terapia

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BACKGROUND: The 'diagnostic odyssey' is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in clinical settings is challenging, with patients typically experiencing a multitude of unnecessary tests and procedures. To improve diagnosis of rare disease, clinicians require evidence-based guidance on when their patient may be presenting with a rare disease. This study aims to identify common experiences amongst patients with rare diseases, to inform a series of 'red flags' that can aid diagnosis of rare diseases in non-specialist settings. A questionnaire was developed by Medics for Rare Diseases, informed by the experiences of clinicians, rare disease patients and patient advocates, and was shared with UK-based rare disease patient groups. Study participants were engaged via social media platforms, blogs and email newsletters of three umbrella rare disease organisations. The questionnaire, comprising 22 questions, was designed to identify typical experiences relating to physical and psychosocial manifestations and presentation of disease, patient interactions with healthcare providers, and family history. RESULTS: Questionnaire responses were received from 79 different rare disease patient groups and the common experiences identified were used to inform seven red flags of rare disease: multi-system involvement (3 or more); genetic inheritance pattern; continued presentation throughout childhood and adulthood; difficulties at school, especially relating to absences, difficulty participating in physical education and experiences of bullying or social isolation; multiple specialist referrals; extended period with unexplained symptoms; and misdiagnosis. In light of the red flags identified, recommendations for primary care and education settings have been proposed, focusing on the need for holistic assessment and awareness of both physical and psychosocial factors. CONCLUSIONS: This study identified key commonalities experienced by patients with rare disease across physical and psychosocial domains, in addition to understanding patients' history and experiences with healthcare providers. These findings could be used to develop a clinical decision­making tool to support non-specialist practitioners to consider when their patient may have an undiagnosed rare condition, which may minimise the challenges of the 'diagnostic odyssey' and improve the patient experience.

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Atención a la Salud , Enfermedades Raras , Humanos , Niño , Enfermedades Raras/diagnóstico , Cuidadores , Personal de Salud

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BACKGROUND: Physiotherapists in Australia play a vital first-contact role in identifying suspected serious pathologies and navigating their management pathways. Current literature highlights challenges faced by physiotherapists including implications of ineffective identification and management of suspected serious pathologies, yet the perspectives of new-graduate physiotherapists related to this area of practice remain unknown. OBJECTIVE: The aim of this study was to explore new-graduate physiotherapists' perspectives and developmental needs related to identifying suspected serious pathologies and navigating their management pathways in patients with musculoskeletal complaints. DESIGN: and Method: A qualitative study using a reflexive thematic analytical approach was undertaken. Eighteen semi-structured interviews were conducted. Thematic analysis was utilized on the interview data. RESULTS: Four key themes were generated: (1) Physiotherapists as advocates; (2) Navigating uncertainties and complexities; (3) Safe and accessible workplace support builds confidence; and (4) Importance of direct learning opportunities. CONCLUSION: New-graduate physiotherapists recognize their imperative role as first-contact practitioners in identifying and navigating suspected serious pathologies yet also experience significant uncertainties. The findings highlight key developmental needs, including supportive workplaces, established referral frameworks and direct learning opportunities during pre-professional training.

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Fisioterapeutas , Investigación Cualitativa , Humanos , Fisioterapeutas/psicología , Femenino , Masculino , Adulto , Australia , Enfermedades Musculoesqueléticas/diagnóstico , Enfermedades Musculoesqueléticas/terapia , Persona de Mediana Edad , Actitud del Personal de Salud

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Joint mobilizations are well-established and extensively researched treatment modality for adults. However, it remains largely unexplored in the pediatric population. Physical therapists hesitate to perform joint mobilization on children because of lack of knowledge, concern for the developing skeletal system, and the paucity of research on the topic. The aim of this article is to present a decision tool created for a continuing education course with the purpose to instruct pediatric therapists in the safe and effective use of joint mobilizations in children. It is based on the pediatric paradigm of developmental and functional assessment to best address the concerns and preferences of physical therapists (PTs). To advance research in pediatric joint mobilization, PTs should listen to the concerns of pediatric therapists and respond to those concerns with effective, evidence-supported training. This decision tree will serve as a resource for the education of pediatric therapists in the safe and effective use of joint mobilizations.

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Fisioterapeutas , Humanos , Niño , Fisioterapeutas/educación , Modalidades de Fisioterapia/educación , Pediatría/educación , Pediatría/métodos , Manipulaciones Musculoesqueléticas/métodos , Manipulaciones Musculoesqueléticas/educación

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BACKGROUND: The prevalence of transthyretin amyloid cardiomyopathy (ATTR-CM) in atrial fibrillation (AF) patients remains unclear. We explored the efficacy of computed tomography-based myocardial extracellular volume (CT-ECV) combined with red flags for the early screening of concealed ATTR-CM in AF patients undergoing catheter ablation. METHODS AND RESULTS: Patients referred for AF ablation at Oita University Hospital were prescreened using the red-flag signs defined by echocardiographic or electrocardiographic findings, medical history, symptoms, and blood biochemical findings. Myocardial CT-ECV was quantified in red flag-positive patients using routine pre-AF ablation planning cardiac CT with the addition of delayed-phase cardiac CT scans. Patients with high (>35%) ECV were evaluated using technetium pyrophosphate (99 mTc-PYP) scintigraphy. A cardiac biopsy was performed during the planned AF ablation procedure if 99 mTc-PYP scintigraphy was positive. Between June 2022 and June 2023, 342 patients were referred for AF ablation. Sixty-seven (19.6%) patients had at least one of the red-flag signs. Myocardial CT-ECV was evaluated in 57 patients because of contraindications to contrast media, revealing that 16 patients had high CT-ECV. Of these, 6 patients showed a positive 99 mTc-PYP study, and 6 patients were subsequently diagnosed with wild-type ATTR-CM via cardiac biopsy and genetic testing. CONCLUSIONS: CT-ECV combined with red flags could contribute to the systematic early screening of concealed ATTR-CM in AF patients undergoing catheter ablation.

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Neuropatías Amiloides Familiares , Fibrilación Atrial , Cardiomiopatías , Ablación por Catéter , Miocardio , Humanos , Fibrilación Atrial/cirugía , Fibrilación Atrial/diagnóstico por imagen , Masculino , Femenino , Anciano , Persona de Mediana Edad , Neuropatías Amiloides Familiares/diagnóstico por imagen , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/cirugía , Cardiomiopatías/diagnóstico por imagen , Miocardio/patología , Tomografía Computarizada por Rayos X , Diagnóstico Precoz

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AIM: To evaluate red flags as an instrument to distinguish other medical conditions from Functional Gastrointestinal Disorders (FGID) in children with long-term abdominal pain. METHODS: In a retrospective follow-up, data were collected from 317 children who were referred for medical assessment due to long-term abdominal pain between the years 2011 and 2012 at three Swedish paediatric open clinic units in Sweden. Throughout the review of medical records, any documented red flags at the primary consultation and finally set diagnosis after 1 year were noted for all cases. RESULTS: A non-FGID disease was diagnosed in 32 cases (10.1%). The sensitivity of red flags to predict inflammatory bowel disease (IBD) was 100% and the specificity 64.1%. The sensitivity of red flags to predict celiac disease was 45.5% and the specificity 63.7%. The sensitivity of red flags to predict any non-FGID disease was 59.4%, and the specificity was 65.6%. CONCLUSION: The use of red flags is a sensitive instrument to identify patients with IBD but less applicable when identifying celiac disease and other organic diseases. Specificity is generally low and future biomarkers for assessing children with long-term abdominal pain is needed.

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Enfermedad Celíaca , Enfermedades Inflamatorias del Intestino , Niño , Humanos , Estudios Retrospectivos , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/diagnóstico , Dolor Abdominal/diagnóstico , Dolor Abdominal/etiología , Enfermedades Inflamatorias del Intestino/diagnóstico , Suecia

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INTRODUCTION: Differential diagnosis of pediatric neck pain requires age-appropriate communication and assessment tools. Recognizing these age-related nuances is critical, emphasizing the role of physical therapists in assessing and managing pediatric patients while ruling out severe pathologies. CASE DESCRIPTION: A 10-year-old male presented to physical therapy with a five-week history of increasing neck pain. A thorough history and segmental cervical examination considering the patient's age and development, led to patient referral to the emergency department. This case underscores the significance of comprehensive evaluation in pediatric neck pain management. OUTCOMES: The patient was diagnosed with Langerhans Cell Histiocytosis (LCH). LCH primarily affects children and is treated with chemotherapy. Chemotherapy reduced the tumor, revealing C2 vertebral body damage. The patient underwent C1-C3 fusion surgery, a standard procedure for atlanto-occipital region stabilization in children. The patient was advised to restrict motion for 6 months while monitoring for tumor growth. DISCUSSION-CONCLUSION: Pediatric neck cancer presents diagnostic challenges due to varied symptoms, but research highlights specific indicators to assist with differential diagnosis. This case emphasizes the need to recognize the complexities of pediatric neck pain and perform a thorough age-appropriate evaluation.

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Vértebras Cervicales , Dolor de Cuello , Humanos , Masculino , Niño , Dolor de Cuello/terapia , Dolor de Cuello/etiología , Histiocitosis de Células de Langerhans/terapia , Histiocitosis de Células de Langerhans/complicaciones , Modalidades de Fisioterapia , Diagnóstico Diferencial , Fusión Vertebral/métodos , Neoplasias de la Columna Vertebral/terapia , Neoplasias de la Columna Vertebral/complicaciones

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BACKGROUND: Developmental delays in children are assessed in four basic domains: gross motor, fine motor, social, and language. Early years of life are crucial in a child's development, so it is imperative that parents be aware of developmental milestones to facilitate early diagnosis and treatment in case of a developmental delay. This study assessed parental knowledge, attitude, and practices regarding children's developmental milestones and associated "red flags". METHODS: A cross-sectional study was conducted at the Department of Pediatrics at Liaquat National Hospital, Karachi. 390 parents, who had at least one child under 5 years of age, with no diagnosed developmental delay, were interviewed during outpatient clinic visits. The questionnaire consisted of three components to assess parental knowledge, attitude, and practices. RESULTS: 59% and 54% of parents had poor knowledge of gross and fine motor milestones respectively; In the social domain, 56% of the respondents had inadequate knowledge. 42% had inadequate knowledge of language milestones; 29% of parents strongly agreed that their pediatricians provide satisfactory information regarding red flags of developmental milestones. 60% of parents strongly agreed that their child's developmental delay would be a cause of concern for them. In the case of developmental delay, 55% of parents said they would consult a general pediatrician, 11% preferred a pediatric neurologist, 21% opted for a developmental pediatrician and 13% opted for a family physician. Residence and family systems were found to be associated with language-related milestones with significantly higher odds of knowledge among urban residents than rural ones and a significantly lower likelihood of language milestones knowledge among joint families than nuclear families. Female gender was found to be significantly associated with positive attitude. CONCLUSION: The majority of our respondents showed considerably poor knowledge regarding developmental milestones. This highlights the need to devise ways to educate parents on this subject to enable them to vigilantly monitor their child's developmental status and any associated abnormalities and ultimately facilitate the right course of action.

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Desarrollo Infantil , Conocimientos, Actitudes y Práctica en Salud , Niño , Femenino , Humanos , Estudios Transversales , Pakistán , Padres , Lactante , Preescolar

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Background Parents serve a fundamental role in monitoring developmental milestones and identifying potential delays during early childhood, enabling timely interventions. However, previous studies in Saudi Arabia have shown limited awareness among parents regarding age-specific norms and red flags across developmental domains. This knowledge gap can severely impact the detection and management of abnormalities. Hence, a comprehensive understanding of Saudi parental knowledge, attitudes, and practices concerning childhood developmental trajectories is imperative.  Methodology This cross-sectional study assessed developmental milestone awareness, beliefs, and behaviors among Saudi parents. A sample of 1,052 parents completed a validated 38-item questionnaire covering knowledge, attitudes, practices, and demographics. Knowledge was assessed across developmental domains using 22 multiple-choice questions, with scores categorized as excellent (≥75%), good (50%-75%), fair (40%-50%), or poor (≤39%). Attitudes and practices were captured on five-point Likert scales. Descriptive and chi-square analyses were conducted using IBM SPSS Statistics for Windows, Version 28.0 (IBM Corp., Armonk, NY).  Results The majority of participants were females (844, 80.2%), with a mean age of 38.8 years. Serious knowledge inadequacies existed regarding developmental timelines across domains, especially motor milestones like crawling (93, 29.4% correct), sitting unsupported (45, 27.6%), pointing at objects (278, 26.4%), and responding to names (440, 41.8%). Overall, 2 (0.2%) participants showed excellent and 281 (26.7%) showed good understanding, while 490 (46.6%) had poor knowledge. Significant sociodemographic variations were observed, with women and experienced parents demonstrating greater awareness (P < 0.001). Despite knowledge gaps, 542 (51.5%) actively sought developmental information themselves, and over 50% trusted pediatric guidance. Most participants expressed a willingness to undergo screenings if risk factors existed and reported spending a considerable amount of daily interaction time with their children, focusing on developmental needs. Conclusions Critical developmental milestone knowledge shortfalls and selective attitudes persist among Saudi parents, warranting public education and physician-parent communication that enhance interventions to enable impactful developmental monitoring and prompt responses to abnormalities in a timely manner.

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BACKGROUND: Concerns have been raised that pharmacists sometimes act as barriers to patients with opioid use disorder (OUD) accessing buprenorphine treatment. The present research explores how community pharmacists' endorsement (vs non-endorsement) of stigmatizing beliefs about patients taking buprenorphine relate to intentions, comfort, and decisions regarding dispensing buprenorphine for OUD. In addition, we assessed attitudes toward risk in pharmacy practice as a novel correlate of dispensing intentions and decisions. METHODS: A sample of 207 active community-based pharmacists practicing in the United States responded to survey items measuring stigma, risk tolerance, and intentions to dispense buprenorphine. The survey included 2 vignettes in which patients presented to the pharmacy with a prescription for buprenorphine, and respondents rated their comfort with dispensing and decisions regarding dispensing in the vignette. RESULTS: Results suggest that both stigma toward patients taking buprenorphine to treat OUD and tolerance for risk in pharmacy settings are related to differences in pharmacists' intentions to and willingness to dispense buprenorphine for OUD. CONCLUSIONS: Findings support the need for interventions to reduce stigma associated with buprenorphine use among pharmacists and suggest that risk tolerance is an important determinant of pharmacists' behavior that merits further study.

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Buprenorfina , Trastornos Relacionados con Opioides , Servicios Farmacéuticos , Humanos , Estados Unidos , Farmacéuticos , Intención

RESUMEN

Anderson-Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic "red flags" is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac "red flags" that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.