Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases.

BACKGROUND: Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systematic research on the experiences of children and adults with RDs in the American healthcare system that identifies commonalities across RDs. This research aimed to: (1) Describe demographics, disease characteristics, diagnostic experiences, access to healthcare, knowledge about RDs, support from healthcare professionals, and patient satisfaction among people with RDs and their caregivers; (2) examine predictors of patient satisfaction among adults with RDs; (3) compare health-related quality of life and stigma to US population norms; 4) examine predictors of anxiety and depression among adults and children with RDs. RESULTS: This large-scale survey included (n = 1128) adults with RD or parents or caregivers of children with RDs representing 344 different RDs. About one third of participants waited four or more years for a diagnosis and misdiagnosis was common. A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services. Approximately half of participants felt their medical and social support was sufficient, yet less than a third had sufficient dental and psychological support. Patients were generally neither satisfied or dissatisfied with their healthcare providers. Major predictors of satisfaction were lower stigma, lower anxiety, shorter diagnostic odyssey, greater physical function, and less pain interference. Adults and children with RDs had significantly poorer health-related quality of life and stigma in all domains compared to US norms. Predictors of both anxiety and depression were greater stigma/poor peer relationships, fatigue, sleep disturbance, limited ability to participate in social roles, and unstable disease course. CONCLUSIONS: People in the U.S. with RDs have poor health-related quality of life and high stigma. These factors are related to patient satisfaction and healthcare access, including diagnostic delays and misdiagnosis. Advocacy work is needed in order to improve healthcare access and ultimately health-related quality of life for children and adults with RDs.

Mealtimes in Head Start pre-k classrooms: examining language-promoting opportunities in a hybrid space.

In this study we sought to identify profiles of talk during Head Start preschool mealtime conversations involving teachers and students. Videos of 44 Head Start classrooms' lunch interactions were analyzed for the ratio of teacher-child talk and amount of academic vocabulary, and then coded for instances of academic/food, social/personal, and management talk to highlight the degree of hybridity of talk within this unique setting. Cluster analysis revealed four distinct patterns of teacher-child mealtime interactions in 44 Head Start preschool classrooms: classroom discourse, home discourse, hybrid-low, and hybrid-high. Multilevel models further demonstrated a relationship among these clusters of teacher-child interactions and children's end-of-year expressive vocabulary scores controlling for ratio of teacher-child talk and pre-test scores. Children in classrooms displaying a hybrid style of mealtime discourse made the greatest gains on measures of expressive vocabulary in contrast to their peers in classrooms displaying other discourse styles.

A Unique Communicating Arterial Branch between the Celiac Trunk and the Superior Mesenteric Artery: A Case Report.

BACKGROUND: Many anatomical variations have been associated with the Celiac Trunk, of which most are classified as being asymptomatic. CASE PRESENTATION: In this article, we describe yet another anatomical variation involving the Celiac Trunk, Superior Mesenteric artery and the Inferior Pancreaticoduodenal Artery during routine cadaveric dissection. We identified a fourth branch of the Celiac trunk (quadrification) that communicated with the Superior Mesenteric artery at the point of origin of the Inferior Pancreaticoduodenal artery which we concluded to be the Anterior Inferior Pancreaticoduodenal artery. CONCLUSION: This anastomosis could be essential in the case of occlusion between the Celiac Trunk and the Superior Mesenteric artery.

Fenestrated Vertebral Artery in A Routine Cadaveric Dissection.

BACKGROUND: Anomalies associated with the vertebral arteries are relatively rare. The vertebral arteries arise from the first part of the Subclavian artery and pass through the transverse foramina of C6 through C1. CASE PRESENTATION: However, in this article, we describe a unique variation in the anatomical orientation of the right vertebral artery during a routine cadaveric neck dissection where the right vertebral artery gives an oblique branch from the extradural segment (C2) forming a fenestrated Vertebral artery. CONCLUSION: Despite the lack of established clinical significance, multiple co-morbid vascular malformations are yet associated with the Vertebral artery fenestration with a possibility of iatrogenic injuries if not taking into cognisance.