Publications by authors named "M Alex Bellenger"

Article Synopsis
  • Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare illnesses that affect how the body processes certain substances, and they can make patients very sick.
  • Researchers want to create a special questionnaire called the Methylmalonic Acidemia and Propionic Acidemia Questionnaire (MMAPAQ) that helps caregivers share important information about symptoms of these conditions.
  • They interviewed caregivers and some patients to understand the main signs and symptoms of MMA and PA, and they found consistent feedback to help develop this new questionnaire.
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Objective: Extreme Risk Protection Orders (ERPO) allow a petitioner to file a civil order to temporarily restrict access to firearms among individuals ("respondents") deemed to be at extreme risk of harming themselves, others, or both. Although unable to file ERPOs for their clients in most states, health professionals may play a pivotal role in the ERPO process by recommending an eligible petitioner initiate the process. We describe the process of filing an ERPO when a healthcare, mental health, or social service professional contacted an ERPO petitioner.

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Objective: Voxelotor is a first-in-class sickle hemoglobin-polymerization inhibitor that was approved in 2019 by the US Food and Drug Administration for treatment of patients with sickle cell disease (SCD) aged ≥12 years; in 2021, the approval was extended to children with SCD aged 4 to 11 years. Additionally, both the Ministry of Health and Prevention for the United Arab Emirates and the European Commission granted marketing authorization for voxelotor in September 2021 and February 2022, respectively, for treatment of SCD in adults and pediatric patients aged ≥12 years. Thus, additional information on the patient experience with voxelotor would be useful for patients, caregivers, and healthcare professionals alike.

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Background: Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health-related quality of life (HRQoL) of individuals and families living with the condition.

Methods: The objective of this qualitative study was to describe the HRQoL of children and adolescents with achondroplasia and their caregivers. Thirty-four caregivers and 12 adolescents from the United States and Spain participated in one of eight focus groups or completed an individual interview, which was audio-recorded and transcribed.

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Research summary. Extreme risk protection orders (ERPOs) allow police, family, and household members to file an order to temporarily remove firearms or prevent purchasing among individuals at high risk for harming themselves or others. Using inductive qualitative content analysis, we examined 241 ERPOs filed December 8, 2016 through May 10, 2019 in Washington State.

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