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Research in the field of preclinical alcohol research, but also science in general, has a problem: Many published scientific results cannot be repeated. As a result, findings from preclinical research often do not translate well to humans, causing increasing disappointment and calls for restructuring of preclinical research, that is, better reproducibility of preclinical research. However, the replication crisis is an inherent problem in biomedical research. Replication failures are not only due to small experimental variations but are often the result of poor methodology. In response to the replication crisis, numerous guidelines and recommendations have been proposed to promote transparency, rigor, and reproducibility in scientific research. What is missing today is a framework that integrates all the confusing information that results from all these guidelines and recommendations. Here we present STRINGENCY, an integrative approach to good practice guidelines for preclinical alcohol research, which can also apply to behavioral research in general and which aims to improve preclinical research to better prepare it for translation and minimize the "valley of death" in translational research. STRINGENCY includes systematic review and, when possible, meta-analysis prior to study design, sample size calculation, preregistration, multisite experiments, scientific data management (FAIR), reporting of data using ARRIVE, generalization of research data, and transparent publications that allow reporting of null results. We invite the scientific community to adopt STRINGENCY to improve the reliability and impact of preclinical alcohol research.
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OBJECTIVE: To determine whether availability of behavioral health crisis care services is associated with changes in emergency department (ED) utilization. DATA SOURCES AND STUDY SETTING: We used longitudinal panel data (2016-2021) on ED utilization from the Healthcare Cost and Utilization Project's State ED Databases and a novel dataset on crisis care services compiled using information from the Substance Abuse and Mental Health Services Administration's National Directories of Mental Health Treatment Facilities. A total of 1002 unique zip codes from Arizona, Florida, Kentucky, Maryland, and Wisconsin were included in our analyses. STUDY DESIGN: To estimate the effect of crisis care availability on ED utilization, we used a linear regression model with zip code and year fixed effects and standard errors accounting for clustering at the zip code-level. ED utilization related to mental, behavioral, and neurodevelopmental (MBD) disorders served as our primary outcome. We also examined pregnancy-related ED utilization as a nonequivalent dependent variable to assess residual bias in effect estimates. DATA COLLECTION/EXTRACTION METHODS: We extracted data on crisis care services offered by mental health treatment facilities (n = 14,726 facility-years) from the National Directories. MBD-related ED utilization was assessed by applying the Clinical Classification Software Refined from the Healthcare Cost and Utilization Project to the primary ICD-10-CM diagnosis code on each ED encounter (n = 101,360,483). All data were aggregated to the zip code-level (n = 6012 zip-years). PRINCIPAL FINDINGS: The overall rate of MBD-related ED visits between 2016 and 2021 was 1610 annual visits per 100,000 population. Walk-in crisis stabilization services were associated with reduced MBD-related ED utilization (coefficient = -0.028, p = 0.009), but were not significantly associated with changes in pregnancy-related ED utilization. CONCLUSIONS: Walk-in crisis stabilization services were associated with reductions in MBD-related ED utilization. Decision-makers looking to reduce MBD-related ED utilization should consider increasing access to this promising alternative model.
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Tens of thousands of trucks cross the U.S.-Mexico border every day. Cross-border truckers' high mobility puts them at risk of acquiring and transmitting infectious diseases and creates challenges reaching them with emergency public health messaging due to their everchanging locations and limited English proficiency. Despite this community-level transmission risk and documented health disparities related to various infectious and noninfectious diseases experienced by truckers themselves, little has been published to provide practical recommendations on better reaching this audience through innovative outreach methods. This article describes a COVID-19 health promotion campaign that aimed to (1) identify, pilot test, and evaluate effective messages, channels, sources, and settings for reaching truckers on both sides of the U.S.-Mexico border and (2) build capacity and sustainability for messaging around future health emergencies. The pilot program ran for 6 weeks, June to August 2023, in three key commercial border crossings and delivered approximately 50,000,000 impressions, nearly 45% more impressions than expected. Considerations for practitioners include the areas of design, implementation, and evaluation. The results provide insight into how to design health promotion messages that resonate with cross-border truckers and how to place these messages where they will be seen, heard, and understood. This includes working effectively with community health workers (CHW), known locally as promotores; identifying local partners that allow CHW to set up onsite; and, working with partner organizations including employers. Practical insights for building evaluation metrics into traditional and grassroots outreach strategies to facilitate real-time optimization as well as continued learning across efforts are also described.
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BACKGROUND: The COVID-19 pandemic has demanded crisis management at all governance levels. While most research has focused on responses of national governments, city-level governance had significant potential to develop tailored approaches. This study explored how the local COVID-19 response was organised and adapted to the specific city population and context in the City of Antwerp, Belgium. METHODS: A case study using semi-structured interviews was set up with 20 key informants with a central role in the coordination and implementation of the city-level COVID-19 response in Antwerp. Thematic analysis of transcripts was guided by an adapted version of the OECD risk management cycle. RESULTS: Respondents' accounts provide a granular understanding of pandemic preparedness, crisis management, and response and adaptation to the COVID-19 crisis in a mid-size European city. Its size was large enough to have a strong capacity within its government bodies, to utilise the expertise of strong partners in the area and to mobilise a critical mass for action, yet small enough to quickly establish connections and trust. In addition to a universal approach, they developed tailored responses to specific neighbourhoods and groups. Well-established community and organisational ties enhanced the effectiveness of grassroots initiatives. The perceived feeling of joint action contributed to a strong collective agency, but respondents noted the need for a system for monitoring and learning. CONCLUSIONS: Local governments are important to develop tailored strategies and organise a locally relevant crisis response in cities. They need expertise and agency, with enough flexibility to experiment. To harness promising practices and avoid repeating errors in future crises, it is crucial to develop a system that better evaluates and monitors local responses, before, during and after crises.
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COVID-19 , Ciudades , Humanos , COVID-19/epidemiología , COVID-19/prevención & control , Bélgica , Gobierno Local , Entrevistas como Asunto , Pandemias , SARS-CoV-2 , Investigación CualitativaRESUMEN
Little is known about the adaption of community-based organizations (CBOs) during the COVID-19 crisis. This study aimed to study how HIV CBOs and their community health workers (CHWs) faced the COVID-19 outbreak. Semi-structured interviews (n = 53) were conducted among CHWs in Burundi, Mauritania, and Lebanon in 2021. A thematic content analysis was performed. Results showed that CBOs had succeeded in maintaining HIV services and integrated COVID-19 prevention and awareness in their activities. COVID-19 led to innovation in terms of HIV services (eg, telemedicine and online psychosocial support) and to opportunities to try new modalities of antiretroviral therapy dispensation. Field workers (a specific group among CHWs) were negatively impacted by the COVID-19 crisis and showed resilience in their adaptation to ensure the continuity of their activities. Considering the essential role of field workers during the crisis, their status and the sustainability of their activities should be clearly supported by health policies and programs.
Role of community health workers during the COVID-19 pandemicThis study explores how HIV community-based organizations (CBOs) and their community health workers (CHWs) adapted during the COVID-19 pandemic. We conducted interviews with 53 CHWs from Burundi, Mauritania, and Lebanon in 2021 to understand their experiences. We found that despite the challenges posed by COVID-19, CBOs managed to continue providing essential HIV services. They also incorporated COVID-19 prevention and awareness efforts into their work. The pandemic prompted innovation, such as the use of telemedicine and online psychosocial support, and provided opportunities to explore new ways of dispensing antiretroviral therapy (ART). However, field workers, a specific group of CHWs, faced significant negative impacts due to the pandemic. Despite these challenges, they showed remarkable resilience and adapted to ensure the continuity of their services. Given the critical role of field workers during the crisis, it is important for health policies and programs to support their status and ensure the sustainability of their activities.
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COVID-19 , Agentes Comunitarios de Salud , Infecciones por VIH , Investigación Cualitativa , Poblaciones Vulnerables , Humanos , Infecciones por VIH/epidemiología , COVID-19/epidemiología , COVID-19/prevención & control , Líbano/epidemiología , Burundi/epidemiología , Femenino , Masculino , Poblaciones Vulnerables/estadística & datos numéricos , Mauritania/epidemiología , Adulto , SARS-CoV-2 , Telemedicina/estadística & datos numéricos , Persona de Mediana Edad , Servicios de Salud Comunitaria/estadística & datos numéricosRESUMEN
Police negotiators provide leadership and expertise in the de-escalation and resolution of critical incidents, including responding to individuals exhibiting suicidal behaviour. This study describes the frequency and characteristics of suicide-related negotiation incidents in Queensland, Australia as classified in the Queensland Police Service Negotiator Deployment Database, between 2012 and 2014. Incidents were analysed to understand the individuals involved and precipitating factors including mental health problems and intoxication with alcohol or drugs. Police negotiators were deployed to 156 suicide intervention incidents over a 3-year period, half of which occurred at a residence. The cohort had a median age of 32 years and were predominantly male (82%). Four out of five individuals appeared to have a mental health problem, and at least half were intoxicated due to drugs or alcohol. Findings highlight the importance of strong linkages between police, health and social services and the need for innovative and comprehensive, cross-agency programmes.
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Diffuse alveolar hemorrhage (DAH) can be caused by various conditions, categorized as autoimmune and non-autoimmune. Immunofactor-mediated vasculitis, such as Wegener granulomatosis, microscopic polyangiitis, Goodpasture syndrome, connective tissue disorders, and antiphospholipid antibody syndrome, are common autoimmune causes. Non-autoimmune factors include infectious or toxic exposures and neoplastic conditions. The diagnosis of DAH, resulting from excessive catecholamine release from an adrenal pheochromocytoma or extra-adrenal paraganglioma, can present diagnostic challenges and necessitate prompt treatment. In this report, we present a case of pheochromocytoma that manifested as an adrenal incidentaloma (diagnosed during the management of sudden-onset DAH after cholecystectomy). Case report: A 39-year-old female patient with adrenal incidentaloma developed DAH following a cholecystectomy procedure, presenting with sudden-onset hemoptysis and dyspnea. Administration of glucocorticoids, known to precipitate pheochromocytoma crisis (PCC), was required before the cause was determined. Intubation and mechanical ventilation were necessary due to persistent hypoxemic respiratory failure and acute respiratory distress syndrome (ARDS). The patient in this case experienced two epidoses of PCC while she was on mechanical ventilation. Subsequent work-up revealed a 26 × 25 mm left adrenal adenoma with hormonal confirmation of catecholamine hypersecretion. A laparoscopic adrenalectomy was done eight months later to excise the left adrenal gland. Subsequent examination of the tissue revealed pheochromocytoma, thereby validating the initial diagnosis. Conclusion: Adrenal incidentalomas may be pheochromocytomas (adrenal incidentalomas can manifest as pheochromocytomas), even without adrenergic symptoms. It is recommended that adrenal incidentalomas undergo evaluation for pheochromocytoma before undergoing invasive surgery or receiving corticosteroid treatment. When considering potential causes of DAH without further elucidation, including a pheochromocytoma or paraganglioma (PPGLs) in the differential diagnosis is important.
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The current study examines the role of pediatric PCPs in bridging treatment for youth who have experienced mental health crises and the characteristics of these patients for whom PCPs sought psychiatric consultation and referral support from a child psychiatry access program, Maryland Behavioral Health Integration in Pediatric Primary Care. Psychiatric consultation and referral calls between 2012 and 2021 were included if a) the patient was recently seen in a higher level of care and b) the PCP was bridging treatment following the patient's discharge; 208 calls met criteria. The most common mental health concerns included depressed mood, suicidal thoughts/gestures, and anxiety. Acute concerns of aggression, suicide attempts, and hallucinations were also reported. Over half of the patients had two or more mental health diagnoses. At the time of the call, only one quarter of these patients had outpatient therapy services while about half were receiving medication treatment. Most of these patients were discharged from the higher level of care without a care plan. Pediatric PCPs are managing their patients' complex mental health concerns following receipt of higher levels of care. Improvements in collaboration and care coordination between pediatric PCPs and emergency department providers are needed.
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Traditional forms of psychiatric crisis treatment increasingly are being buttressed by services along the Psychiatric Crisis Continuum of Care, such as short-term crisis stabilization services and peer crisis services. The UT Health Living Room (LR) is an outpatient crisis counseling service that adds three promising elements to the Continuum: (1) it integrates outpatient treatment plans into crisis counseling, (2) provides care in a space and with staff who are familiar to patients, and (3) provides training in evidence-based crisis intervention. We examined two-year LR feasibility and outcome data. Mixed-method analyses used longitudinal clinic data and patient self-report measures. Results provide initial support for the feasibility, cost effectiveness and clinical effectiveness of the LR. Limitations include non-blinded ratings, limited experimental control, and simple cost-effectiveness methodology. The UT Living Room is feasible and offers novel elements to help patients in community clinics address emotional crises.
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Against the background of Job Demands-Resources and Conservation of Resources theory and research on organizational communication, this prospective study among n = 312 employees explores the significant role of perceived information process quality (PIPQ) in enhancing employees' optimism during the COVID-19 pandemic. It thereby contributes to a deeper understanding of the factors influencing employee optimism in challenging contexts. In this study, PIPQ is defined by the availability of timely information, clarity, and consistency in the information provided. Results from latent change score modelling revealed that employees who experienced high PIPQ, particularly consistent information, reported feeling more optimistic about work-related aspects and also experienced spillover effects into their private lives. Notably, both consistency in information prior to the pandemic and increases in consistent information during the pandemic demonstrated this beneficial effect. Moreover, timely available information also positively influenced optimism, especially regarding work-related aspects. However, the study did not find evidence that clarity in information significantly affected optimism. In summary, the findings underscore the importance of accessible and consistent information as a vital resource for employees' ability to navigate crises.
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BACKGROUND AND AIMS: This study explored the associations between symptoms of the Suicide Crisis Syndrome (SCS) at admission and self-harm and death by suicide post-discharge. The association between clinicians' emotional responses toward inpatients at admission and post-discharge self-harm and suicide death was also explored. METHODS: Within the first 24-h of admission, patients completed a self-report measure of symptoms of SCS, and clinicians reported their emotional responses toward the patients. Follow-up data were obtained from the Norwegian Patient Registry and the Norwegian Cause of Death Registry. RESULTS: Within 18 months post-discharge, 44 (12.7%) out of 347 patients had self-harmed, and five patients (1.4%) had died by suicide. At admission, patients who later self-harmed reported higher symptoms of SCS compared to the other patients. Clinicians reported more negative emotional responses toward the self-harm group. In a regression analysis, previous suicidal behavior and a diagnosis of "emotionally unstable personality disorder" (EUPD; F60.3) were associated with increased risk of self-harm post-discharge. CONCLUSION: The results indicated that patients with post-discharge episodes of self-harm are significantly different from patients who do not self-harm in terms of more intense symptoms of SCS during admission. Clinicians' negative emotional responses may be relevant in the assessment of the risk of post-discharge self-harm.
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BACKGROUND: Self-injurious thoughts and behaviors (SITBs) are increasing dramatically among children and adolescents. Crisis support is intended to provide immediate mental health care, risk mitigation, and intervention for those experiencing SITBs and acute mental health distress. Digital mental health interventions (DMHIs) have emerged as accessible and effective alternatives to in-person care; however, most do not provide crisis support or ongoing care for children and adolescents with SITBs. OBJECTIVE: To inform the development of digital crisis support and mental health care for children and adolescents presenting with SITBs, this study aims to (1) characterize children and adolescents with SITBs who participate in a digital crisis response service, (2) compare anxiety and depressive symptoms of children and adolescents presenting with SITBs versus those without SITBs throughout care, and (3) suggest future steps for the implementation of digital crisis support and mental health care for children and adolescents presenting with SITBs. METHODS: This retrospective study was conducted using data from children and adolescents (aged 1-17 y; N=2161) involved in a pediatric collaborative care DMHI. SITB prevalence was assessed during each live session. For children and adolescents who exhibited SITBs during live sessions, a rapid crisis support team provided evidence-based crisis support services. Assessments were completed approximately once a month to measure anxiety and depressive symptom severity. Demographics, mental health symptoms, and change in the mental health symptoms of children and adolescents presenting with SITBs (group with SITBs) were compared to those of children and adolescents with no SITBs (group without SITBs). RESULTS: Compared to the group without SITBs (1977/2161, 91.49%), the group with SITBs (184/2161, 8.51%) was mostly made up of adolescents (107/184, 58.2%) and female children and adolescents (118/184, 64.1%). At baseline, compared to the group without SITBs, the group with SITBs had more severe anxiety and depressive symptoms. From before to after mental health care with the DMHI, the 2 groups did not differ in the rate of children and adolescents with anxiety symptom improvement (group with SITBs: 54/70, 77% vs group without SITBs: 367/440, 83.4%; χ21=1.2; P=.32) as well as depressive symptom improvement (group with SITBs: 58/72, 81% vs group without SITBs: 255/313, 81.5%; χ21=0; P=.99). The 2 groups also did not differ in the amount of change in symptom severity during care with the DMHI for anxiety (t80.20=1.37; P=.28) and depressive (t83.75=-0.08; P=.99) symptoms. CONCLUSIONS: This study demonstrates that participation in a collaborative care DMHI is associated with improved mental health outcomes in children and adolescents experiencing SITBs. These results provide preliminary insights for the use of pediatric DMHIs in crisis support and mental health care for children and adolescents presenting with SITBs, thereby addressing the public health issue of acute mental health crisis in children and adolescents.
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Supply chain disruptions caused by major public health crises will severely impact the economic growth. The main purpose of this paper is to examine the above proposition, taking the strict lockdown policy and supply chain disruption in Hubei Province at the beginning of the COVID-19 epidemic as a case, to provide decision-making reference for the government in supply chain management under major public health crisis. To achieve this goal, this paper firstly measures the supply chain network of Hubei province via the multi-region and multi-sector value-added model; then empirically studies the impact of lockdown policy and supply chain disruption on provincial economic growth, with the monthly data of 31 provinces covering January 2018 to December 2022, by the Difference in Difference method. The results show that: the lockdown policy and supply chain disruption under the Covid-19 epidemic negatively affected provincial economic growth; moreover, supply chain disruptions make provinces closer to Hubei more vulnerable to economic shocks. The results are significant in the placebo test, and are further supported in the robustness test of alternative variables and data. We further discussed the Business Cycle Co-movement between Hubei and other provinces, and the probable impact mechanism of supply chain interruption on economic growth in the Covid-19 epidemic. This study shows that supply chain network plays an important role in the transmission of interregional economic shocks, as well as its importance for economic growth, especially in major public health crises.
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COVID-19 , Desarrollo Económico , Salud Pública , SARS-CoV-2 , Humanos , COVID-19/epidemiología , COVID-19/economía , Salud Pública/economía , China/epidemiología , PandemiasRESUMEN
INTRODUCTION: Multiple Canadian jurisdictions have reported a pattern of chronic pain among people who died from substance-related acute toxicity. This study examined the prevalence and characteristics of those with chronic pain using data from a national study of people who died of accidental acute toxicity. METHODS: A cross-sectional analysis of accidental substance-related acute toxicity deaths that occurred in Canada between 1 January 2016 and 31 December 2017 was conducted. The prevalence of pain and pain-related conditions were summarized as counts and percentages of the overall sample. Subgroups of people with and without a documented history of chronic pain were compared across sociodemographic characteristics, health history, contextual factors and substances involved. RESULTS: From the overall sample (n = 7902), 1056 (13%) people had a history of chronic pain while 6366 (81%) had no documented history. Those with chronic pain tended to be older (40 years and older), unemployed, retired and/or receiving disability supports around the time of death. History of mental health conditions, trauma and surgery or injury was significantly more prevalent among people with chronic pain. Of the substances that most frequently contributed to death, opioids typically prescribed for pain (hydromorphone and oxycodone) were detected in toxicology more often among those with chronic pain than those without. CONCLUSION: Findings underscore the cross-cutting role of multiple comorbidities and unmanaged pain, which could compound the risk of acute toxicity death. Continued prioritization of harm reduction and regular patient engagement to assess ongoing needs are among the various opportunities for intervention.
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Dolor Crónico , Humanos , Canadá/epidemiología , Masculino , Femenino , Dolor Crónico/epidemiología , Estudios Transversales , Persona de Mediana Edad , Adulto , Anciano , Prevalencia , Analgésicos Opioides/envenenamiento , Adolescente , Adulto Joven , Factores de Edad , Sobredosis de Droga/mortalidad , Sobredosis de Droga/epidemiología , Factores SociodemográficosRESUMEN
Efgartigimod was the first-in-class neonatal Fc receptor antagonist approved for the treatment of acetylcholine receptor antibody positive (AChR+), Myasthenia Gravis Foundation of America (MGFA) Class II-IV generalized myasthenia gravis (gMG) patients. As a novel therapy, the clinical experiences are still lacking, especially for the use of efgartigimod in manifest and impending myasthenic crisis (IMC). We reported three AChR+, gMG patients, two with myasthenic crisis (MC) and one with IMC, treated with efgartigimod. MGFA class, MG-Activity of Daily Living score (MG-ADL), Quantitative MG score (QMG), and Muscle Research Council sum score (MRC), concentration of anti-AChR antibody, IgG, globulin, and albumin, subsets of T and B lymphocyte were evaluated or measured before, during and after efgartigimod treatment. All patients showed fast and robust response to efgartigimod with marked improvement in MGFA, MG-ADL, QMG, and MRC scores. Patient 1 did not respond effectively to IVIg but was successfully rescued by add-on efgartigimod. She extubated at 7 days after the first infusion and got rid of NIV after 14-days treatment. Patient 2 and patient 3 directly used efgartigimod when symptoms were not ameliorated by adjusting of oral drugs. Patient 2 wean from BiPAP at seven days after the first infusion. Patient 3 in IMC status, overcame the severe dysphagia at three days after the first infusion. Clinical symptoms continued to improve 1-2 weeks after discharge. Concentration of anti-AChR antibody, IgG and globulin were remarkably reduced by efgartigimod treatment. Our study supported that efgartigimod could act as a fast-acting rescue therapy for patients with MC or IMC. Larger studies from multicenter are required to provide further evidence.
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BACKGROUND: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA. METHODS: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently. RESULTS: Eighty-five individuals with UCD were included in the analyses. Fifty-six of the 85 patients (66%) experienced HA crises, with a total of 163 HA events. Seizures are observed in 13% of HA events. Among all HA events with concomitant EEG, subclinical seizures were identified in 27% of crises of encephalopathy without clinical seizures and 53% of crises with clinical seizures. The odds of seizures increases 2.65 (95% confidence interval [CI], 1.51 to 4.66) times for every 100 µmol/L increase in ammonia and 1.14 (95% CI, 1.04 to 1.25) times for every 100 µmol/L increase in glutamine. CONCLUSIONS: This study highlights the utility of EEG monitoring during crises for patients presenting with clinical seizures or encephalopathy with HA. During HA events, measurement of initial ammonia and glutamine can help determine risk for seizures and guide EEG monitoring decisions.
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INTRODUCTION: We analyze the diagnostic utility of urgent EEG (electroencephalogram) performed in children under 16 years of age in our center. MATERIAL AND METHODS: Descriptive, retrospective, observational study of consecutive patients from 0 to 16 years of age, who underwent an urgent EEG for any reason, from January to December 2022. RESULTS: Of the 388 patients, 70 were children: 37 (52.85%) women, and 33 (47.14%) men. Average age: 6.27⯱â¯4.809. Of the 70 patients, 6 (8.57%) had previous epilepsy. Reasons for consultation: 17 febrile seizures, 10 first focal seizures, 10 first TCG seizures, 6 paroxysmal episodes, 6 absences, 3 myoclonus of extremities, 3 syncope, 2 SE, 2 visual alterations, 2 low level of consciousness, 2 cyanosis, 2 suspected meningitis or encephalitis, 1 choking, 1 atypical headache, 1 chorea, 1 presyncope, 1 language delay. Of the 70 patients, 47 had a normal EEG (67.14%). Of the 47 patients with a normal EEG, 10 were diagnosed with epilepsy, and 3 of them began receiving antiepileptic treatment upon discharge. None of the patients with suspected syncope or paroxysmal disorder (17 patients, 24.28%) had EEG abnormalities. Of the 17 patients with atypical febrile seizures, 3 had EEG abnormalities. CONCLUSIONS: A third of the EEG records performed in the Emergency Department showed alterations, probably due to the time taken. Almost half of the patients with suspected epilepsy or EE showed EEG abnormalities, which confirmed the diagnosis in these cases and encouraged the clinician to start drug treatment. No case with a high suspicion of epilepsy was dismissed due to the normality of the EEG recording in our series. No patient diagnosed with syncope or paroxysmal disorder had EEG abnormalities. Nearly a quarter of patients with atypical febrile seizures showed EEG abnormalities. We barely register cases of status epilepticus, probably due to the degree of complexity of our center.
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BACKGROUND: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and cerebrospinal fluid, causing acute and chronic complications including metabolic crises, acute kidney injury (AKI), and chronic kidney disease (CKD). Detailed Case Description: Herein, we report a case of a 39-year-old male with MA and stage IV CKD who experienced acute metabolic decompensation secondary to gastrointestinal infection. The patient underwent a single hemodialysis (HD) session to correct severe metabolic acidosis unresponsive to medical therapy and to rapidly remove MMA. The HD session resulted in prompt clinical improvement and shortening of hospitalization. DISCUSSION: MMA accumulation in MA patients causes acute and life-threatening complications, such as metabolic decompensations, and long-term complications such as CKD, eventually leading to renal replacement therapy (RRT). Data reported in the literature show that, overall, all dialytic treatments (intermittent HD, continuous HD, peritoneal dialysis) are effective in MMA removal. HD, in particular, can be useful in the emergency setting to control metabolic crises, even with GFR > 15 mL/min. Kidney and/or liver transplantations are often needed in MA patients. While a solitary transplanted kidney can be rapidly affected by MMA exposure, with a decline in renal function even in the first year of follow-up, the combined liver-kidney transplantation showed better long-term results due to a combination of reduced MMA production along with increased urinary excretion. CONCLUSIONS: Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.