Co-occurrence of Anti-GAD65 Syndrome, Type 1 Diabetes Mellitus, and Focal Seizures With Impaired Awareness.

Glutamic acid decarboxylase (GAD) is an intracellular enzyme found in the presynaptic end of nerve terminals that functions to synthesize ​​gamma-aminobutyric acid (GABA) via decarboxylation. Autoantibodies to the GAD65 isoform have been found in high levels in neurological disorders including stiff person syndrome (SPS), autoimmune encephalitis, and refractory epilepsy. Low levels of anti-GAD65 have also been noted in type 1 diabetes mellitus.

SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by many diverse genetic etiologies. Although therapeutics that specifically target causal mutations may rescue individual types of ALS, such approaches cannot treat most patients since they have unknown genetic etiology. Thus, there is a critical need for therapeutic strategies that rescue multiple forms of ALS.

Effects of a primary palliative care intervention on quality of life and mental health in cystic fibrosis.

Background: Despite the significant impact of chronic symptoms on quality of life with cystic fibrosis (CF), the role of palliative care in management of this disease is not well defined. The coping, goal assessment, and relief from evolving CF symptoms (CF-CARES) model is a primary palliative care intervention designed to provide chronic symptom management at all stages of the disease. The goal of this pilot study was to estimate the effectiveness of the CF-CARES intervention on improving chronic symptoms and quality of life for people living with CF.

Advance Care Planning Experiences and Preferences among People with Cystic Fibrosis.

Background: Advance care planning (ACP) is recommended for people with cystic fibrosis (CF), yet guidance for optimal implementation is lacking.

Objective: To assess ACP-related thoughts, comfort level, and preferences among people with CF to guide evidence-based routine implementation of ACP in the CF clinic.

Design: A cross-sectional survey assessed ACP-related experiences and preferences.

The CF-CARES primary palliative care model: A CF-specific structured assessment of symptoms, distress, and coping.

Background: Current palliative care tools do not address distressing chronic symptoms that are most relevant to cystic fibrosis.

Methods: A CF-specific structured assessment based on a primary palliative care framework was administered to 41 adolescents and adults with CF. Descriptive and correlational analyses were conducted.