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OBJECTIVE: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE). METHODS: We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes. RESULTS: Nineteen patients were included in this study. A family history of neonatal seizures was positive in 16 patients, and one additional patient had a family history of infantile seizures. Mutations or deletions of KCNQ2 were found in 14, and of KCNQ3 in 2, of the 19 patients. In all patients, seizures began at 2-5 days of life and occurred multiple times per day. Four patients developed status epilepticus. Seizures were focal, alternating between hemispheres, and characterized by asymmetric tonic posturing associated with apnea and desaturation, followed by unilateral or bilateral asynchronous clonic jerking. Twelve of 19 patients were treated with multiple medications prior to seizure cessation. Seventeen of (88%) 19 patients were seizure-free within hours of receiving oral carbamazepine (CBZ) or oxcarbazepine (OXC). Earlier initiation of CBZ was associated with shorter hospitalization (p < 0.01). No side effects of CBZ were reported. All patients had normal development and remain seizure-free at a mean follow-up period of 7.8 years (6 months-16 years). SIGNIFICANCE: This study provides evidence that CBZ is safe and rapidly effective in neonates with BFNE, even in status epilepticus. We propose that CBZ should be the drug of choice in benign familial neonatal seizures.
Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/farmacologia , Epilepsia Neonatal Benigna/tratamento farmacológico , Pré-Escolar , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico por imagem , Epilepsia Neonatal Benigna/genética , Saúde da Família , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Canal de Sódio Disparado por Voltagem NAV1.2/genética , Canais de Potássio/genéticaRESUMO
Introduction: Universal screening for suicide risk in primary care settings is a promising avenue for preventing self-harm and improving health outcomes. Triaging youth to an appropriate level of care, including diverting lower-risk patients from the emergency department (ED) is a meaningful goal. Previous research indicates integrated behavioral health (IBH) may prevent unnecessary admission to the ED on the day of suicide risk screening. We hypothesized that youth who received an IBH consultation the same day as suicide risk screening would be less likely to be admitted to the ED, but more likely to contact IBH services and utilize primary care in the following month. Methods: We conducted a retrospective chart review of 3,649 youth aged 10-18 years who were screened with the Ask Suicide-Screening Questions (ASQ) in two pediatric primary care practices. We collected demographic data, ASQ and Patient Health Questionnaire-9 (PHQ-9) scores, as well as patient contacts with IBH, the ED, and medical primary care the day of screening and the following 31 days. We conducted a series of logistic regressions and chi-square analyses to determine whether contact with IBH on the same day as positive suicide risk screenings predicted same-day admission to the ED, IBH contact, and medical primary care utilization. Results: Among the 7,982 ASQ scores, 1,380 (18%) were non-acute and 87 ASQs (1%) screened acutely positive. Over 90% of positive screens were diverted from the ED regardless of IBH contact. None of the patients died from suicide. Same-day IBH was associated with higher likelihood of general ED visits for all positive screens (acute and non-acute together). None of the positive screens that received an IBH consultation on the same day as screening were admitted to the ED in the subsequent month. Contact with IBH the same day as screening positively predicted utilization of IBH and medical primary care services in the subsequent month, especially for youth with minority race and ethnicity identities. Discussion: In the context of clinics with IBH and systematic risk assessment processes, most youth who screen positive for suicide risk are diverted from the ED. However, contrary to our hypothesis, our study showed that youth who received same-day IBH consultations were more likely to be admitted to the ED compared to peers who did not receive IBH consultations. These findings suggest that systematic suicide screening combined with IBH consultations in pediatric primary care can effectively identify risk levels and triage patients to appropriate care.
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BACKGROUND: Chlamydia trachomatis (CT) is a highly prevalent sexually transmitted infection in adolescents that can lead to serious complications. San Francisco has one of the highest rates of CT infections in the United States. At baseline, screening rates at the Children's Health Center were significantly below national and network levels. This project aimed to increase screening rates for female patients age 16-24 from 29.2% to 44% in an 18-month period. METHODS: The organization engaged providers, residents, and nursing staff to understand the root causes and choose the screening approach. The following strategies were used to implement this approach in primary and urgent care: (1) universal urine collection, (2) provider and staff education, and (3) adoption of faculty Maintenance of Certification (MOC) credit and resident physician financial incentives. RESULTS: The annual screening rate for CT in primary care female patients 16-24 years old increased from 29.2% to 61.5% in 18 months, and improved to 71.2% one year after the project. Screening rates for female patients over age 15 seen in the colocated urgent care also increased significantly. The research team found no instances of false positive results and had 4 positive results in high-risk patients who initially reported abstinence. CONCLUSIONS: The intervention design and engagement of stakeholders with incentives was associated with significant and sustainable improvements in the CT screening rate for female adolescent primary care patients. This work shows how universal opt-out screening can be a sustainable and effective method to address common barriers to increasing screening for CT in adolescents.