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Objectives: Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4-aminopyridine in a cohort of 102 patients bearing GAA repeat expansions., Methods: We compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States. Clinical manifestations and patient demographics were collected retrospectively from clinical records in an unblinded approach using a standardized form. Post-mortem analysis was done on 4 brains of patients with genetically confirmed SCA27B., Results: In our cohort of 102 patients with SCA27B, we found that SCA27B was a late-onset (57 ± 12.5 years) slowly progressive ataxia with an episodic component in 51% of patients. Balance and gait impairment were almost always present at disease onset. The principal finding on post-mortem examination of 4 brain specimens was loss of Purkinje neurons that was most severe in the vermis most particularly in the anterior vermis. Similar to European populations, a high percent of patients 21/28 (75%) reported a positive treatment response with 4-aminopyridine., Interpretation: Our study further estimates prevalence and further expands the clinical, imaging and pathological features of SCA27B, while looking at treatment response, disease progression, and survival in patients with this disease. Testing for SCA27B should be considered in all undiagnosed ataxia patients, especially those with episodic onset. ANN NEUROL 2024;96:1092-1103., (© 2024 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Background: Breastfeeding education should be incorporated routinely into medical school curricula. Despite strong evidence supporting exclusive breastfeeding of infants, lack of physician education has continued to undermine the practice of breastfeeding. Protecting and supporting breastfeeding should be a public health priority as it has the potential to save billions of dollars in health care and also provide the most benefit to the newborn infant. The purpose of this article was to evaluate how the United States undergraduate medical institution incorporates breastfeeding medicine into its curriculum and to suggest modifications that will improve breastfeeding education at all undergraduate medical institutions., Methods: The authors performed an in-depth review of the undergraduate medical curriculum at the United States medical institution. Course requirements and lectures were compared with the 12 knowledge-based and 12 skill-based competencies that the authors suggest all medical students should possess. In addition, the authors sent out an electronic survey to 600 medical students at the same institution to assess current students understanding and comfort with basic breastfeeding topics., Results: Students in the preclinical years are only learning 3 of the 12 knowledge-based competencies and 1 of the 12 skill-based competencies. Students in the clinical years are learning 5 of the 12 knowledge-based competencies and 9 of the 12 skill-based competencies. Survey results showed that the majorities of medical students were not comfortable with basic breastfeeding medicine and guidance., Discussion: The authors recommend several curriculum changes to advance breastfeeding education. A more targeted breastfeeding curriculum in medical education will help to improve physician knowledge, practice patterns, and confidence in breastfeeding management.

A model of the neural regulation of maternal behavior in rats proposes that the basolateral amygdala (BLA) provides pup-related sensory inputs to the nucleus accumbens-ventral pallidum (NA-VP) circuit and that medial preoptic area activation of the mesolimbic dopamine system potentiates the ability of BLA neurons to stimulate goal-directed maternal responses, such as pup retrieval behavior. Previous research using electrical lesions has provided some direct support for the importance of BLA. In the current study, we examined the effects of temporary inactivation of neurons within BLA and the adjoining basomedial nucleus of the amygdala (BMA) on maternal behavior in postpartum rats. For an anatomical control, muscimol was injected into the medial amygdala (MeA). Since research has shown that MeA plays an inhibitory role in maternal behavior, it was predicted that muscimol injections restricted to that site would not disrupt maternal behavior. The results showed that muscimol injections into BLA/BMA, at dosage levels between 100 and 200 ng/side, produced major deficits in retrieval behavior and minor deficits in nursing behavior. In contrast, muscimol injections into MeA left maternal behavior relatively unaffected. These results show that neuron-specific inactivation of BLA/BMA causes severe deficits in what can be considered a goal-directed and appetitive maternal response, pup retrieval, while leaving the consummatory aspect of maternal behavior, nursing, relatively unaffected. Since oxytocin is important for maternal behavior, and since both BMA and MeA neurons contain OT-binding sites, perhaps OT stimulates BMA output and suppresses MeA output to influence aspects of maternal behavior., (Copyright (c) 2010 Elsevier B.V. All rights reserved.)