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1.
J Genet Couns ; 2023 Jul 08.
Article En | MEDLINE | ID: mdl-37421222

The theoretical benefits of collaboration between patient support groups and genetic counselors have been discussed in the literature. However, no study has quantified the rate or ways that support groups utilize genetic counselors. This study surveyed one person in a leadership role at genetic support organizations to determine how many of the organizations have a relationship with genetic counselors, their utilization of genetic counselors, and their satisfaction with that relationship. It was found that 64.8% of organizations had a relationship with genetic counselors. Relationships were more likely to exist when organizations had full-time workers, had a primary focus on research, or offered a number and variety of services to members. Ways in which organizations utilized genetic counselors included as speakers at conferences, answering patient inquiries, and serving on expert panels. These relationships were supported through funding, networking, and patients connecting the two parties. Overall, representatives from organizations that had a relationship of any sort with genetic counselors were more likely to indicate satisfaction with that relationship than dissatisfaction (χ2 (4, n = 89) = 45.053, p < 0.001). Even so, many respondents indicated that they wanted to continue to grow their relationship with genetic counselors but were hindered by the lack of funding or access to genetic counselors who could be engaged in their cause. Thus, while relationships and satisfaction with the relationship to genetic counselors were generally high, this study highlights access, outreach, and funding as areas of focus to improve utilization of genetic counselors in the support group sector.

2.
J Hum Lact ; 39(3): 529-539, 2023 08.
Article En | MEDLINE | ID: mdl-37272601

BACKGROUND: Recent calls-to-action have recommended the use of gender-inclusive language in the field of human lactation research and clinical care. However, little empirical evidence about parental acceptance and understanding of this new terminology exists. RESEARCH AIM: To assess understanding and acceptance of an inclusive language revision of the Breastfeeding Attrition Prediction Tool (BAPT). METHODS: This was a prospective qualitative study consisting of two phases, a survey followed by cognitive interview. Pregnant people (N = 16) were recruited from the Vermont Special Supplemental Nutrition Program for Women, Infants, and Children, which uses the BAPT as a standard of care. The study team revised the BAPT (e.g., changed terms like "breast milk" to "human milk"). Study participants completed the Revised BAPT and then participated in a cognitive interview by phone to assess their understanding and acceptance of revised, inclusive language. RESULTS: Most inclusive language was well understood and accepted by participants. Proposed revisions to the survey to replace terms like "breastfeeding" with other terms like "chestfeeding" or "bodyfeeding" were more difficult for participants to understand and were not well accepted. CONCLUSIONS: While it is clear that language in human lactation research and clinical practice should be revised to be more gender inclusive, specific inclusive terms elicit different levels of understanding and acceptance. Inclusive language options should be tested with target populations and more research is needed in this area.


Breast Feeding , Tool Use Behavior , Infant , Child , Pregnancy , Female , Humans , Breast Feeding/psychology , Pilot Projects , Prospective Studies , Cognition
3.
Clin Genet ; 102(2): 164-165, 2022 08.
Article En | MEDLINE | ID: mdl-35684978

Diagnosis of a pathogenic germline TRAF7 missense variant (c.1555 C > T, p.L519F) made on a prenatal basis by exome sequencing (ES) performed on chorionic villi. This case highlights the importance of both higher-level prenatal ultrasounds and the accessibility of ES in making genetic diagnoses in making pregnancy management decisions.


Abnormalities, Multiple , Exome , Prenatal Diagnosis , Tumor Necrosis Factor Receptor-Associated Peptides and Proteins , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Exome/genetics , Female , Germ Cells , Humans , Pregnancy , Tumor Necrosis Factor Receptor-Associated Peptides and Proteins/genetics , Tumor Necrosis Factor Receptor-Associated Peptides and Proteins/metabolism , Ultrasonography, Prenatal
4.
Prev Med Rep ; 22: 101332, 2021 Jun.
Article En | MEDLINE | ID: mdl-33680720

Diaper need is a form of material hardship that acutely affects families with young children, is not currently addressed by US antipoverty programs, and has received little public or scientific attention. This study examined the association between diaper need and risk for food insecurity in a statewide sample of participants in the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC). Families enrolled in Vermont WIC in August 2019 were invited to an online survey that included questions related to diaper need and food need. Pearson's Chi-square tests were used to examine the association between diaper need and risk for food insecurity measured by the Hunger Vital Sign Tool, and the associations between diaper need and other household factors. Follow-up questions asked those with diaper need what they do when they run out of diapers and those without diaper need how they access enough diapers. Responses to these questions were tabulated. Complete data were available for 501 households. Over half (52.3%) were at risk for food insecurity and nearly one-third (32.5%) reported diaper need. Households with diaper need were more likely to be at risk for food insecurity than those without diaper need (p < 0.001). Strategies to avoid running out of diapers included borrowing, stretching supplies, seeking diapers from an agency or support organization, switching to cloth or underwear, and buying on credit. Interventions that address diaper need may alleviate hardship and support health equity among families with young children.

5.
Int J Exerc Sci ; 10(1): 137-145, 2017.
Article En | MEDLINE | ID: mdl-28479954

Aerobic cycling has been repeatedly shown to induce hypertrophy in skeletal muscle across a variety of populations, while there has been a lack of investigation into the impact of running upon hypertrophy. An increasingly popular model of aerobic exercise is high-intensity interval training (HIIT); in addition to its positive impact upon cardiovascular health, HIIT may be sufficient for inducing significant muscular hypertrophy. Therefore, the purpose of this investigation was to examine the influence of a high-intensity interval running protocol upon hypertrophy of the vastus lateralis in an untrained, young population. Twelve recreationally active university students (Male: 2; Female: 10; 19.9±0.5 yr.; 169.8±1.9 cm; 63.8±2.3 kg; VO2max: 42.1±1.6 ml•kg-1min-1) completed 24.5±0.6 sessions of high-intensity interval run training over 10 weeks. The protocol consisted of four sets of 4 minutes running at 90-95% HRmax followed by 3 minutes active rest at 70% HRmax. Relative and absolute aerobic capacity increased 5.2±2.2% and 6.0±2.3% respectively as a result of the intervention (p< 0.05). Cross-sectional area (CSA) of the vastus lateralis was measured via panoramic ultrasound imaging pre- and post-intervention. Following the protocol, CSA of the intervention group was 10.6±2.7% greater (p< 0.05), while that of the control group did not change. This is the first data to demonstrate hypertrophy of the vastus lateralis in a young population following a running protocol. These data support the existing body of evidence suggesting aerobic exercise to be an effective mode of improving cardiorespiratory fitness as well as increasing whole muscle size of the quadriceps.

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