Applying the recommended indicators for the diagnosis of preterm and neonatal malnutrition: Answers to frequently asked questions.

In 2018, a committee of expert preterm/neonatal registered dietitian nutritionists published recommended indicators for the diagnosis of malnutrition in preterm infants and neonates. This was in response to a need for indicators appropriate to the preterm/neonatal population, given the emphasis on diagnosing malnutrition in the pediatric and adult population. Since the publication, the authors have received numerous questions regarding the application and use of the indicators. This paper answers questions regarding the three categories of indicators and billing and reimbursement. The goal is to develop uniformity in the application of the malnutrition indicators for quality improvement and research efforts.

Implementation of an Embedded In-Clinic Genetic Testing Station to Optimize Germline Testing for Patients with Pancreatic Adenocarcinoma.

BACKGROUND: Germline genetic testing is universally recommended for patients with pancreatic cancer, but testing remains infrequent. In May 2018, we implemented a systematic patient intake workflow featuring an in-clinic genetic testing station (GTS) at the University of California San Francisco (UCSF) to expedite genetic counseling and facilitate sample collection. We sought to determine the impact of this innovation on rates of genetic counseling and testing. METHODS: Medical records, patient intake records, and genetic test reports were retrospectively reviewed for new patients with pancreatic cancer eligible for germline testing at UCSF from May 2018 to May 2019. Primary outcomes included the rate of offered genetic counseling and confirmed germline testing. Data were compared for periods before and after GTS implementation. Associations between demographic characteristics and testing rates were assessed. RESULTS: Genetic counseling/testing was offered to 209 (94%) of 223 eligible patients, and 158 (71%) completed testing (135 at UCSF, 23 elsewhere). Compared with a traditional referral-based genetic counseling model, confirmed testing increased from 19% to 71%, patient attrition between referral and genetics appointment decreased from 36% to 3%, and rate of pathogenic variant detection increased from 20% to 33%. Patients who were younger, identified as non-Hispanic White, and spoke English as a primary language were more likely to complete testing. CONCLUSIONS: Implementation of a systematic patient intake workflow and in-clinic GTS resulted in the highest reported real-world rate of germline testing for patients with pancreatic cancer. Health care disparities were identified and will guide future innovation. This report provides a model for other centers to create a similar testing infrastructure. IMPLICATIONS FOR PRACTICE: This study demonstrates that a systematic patient intake workflow and associated in-clinic genetic testing station improve delivery of genetic counseling and completion of germline testing for patients with pancreatic cancer. This study achieved, to the authors' knowledge, the highest real-world rate of confirmed genetic testing in this patient population. This article describes this innovation in detail to guide replication at other medical centers and facilitate guideline-concordant care for patients with pancreatic cancer. This infrastructure can also be applied to other cancers for which germline testing is recommended.

"Extrauterine growth restriction" and "postnatal growth failure" are misnomers for preterm infants.

Preterm infants are increasingly diagnosed as having "extrauterine growth restriction" (EUGR) or "postnatal growth failure" (PGF). Usually EUGR/PGF is diagnosed when weight is <10th percentile at either discharge or 36-40 weeks postmenstrual age. The reasons why the phrases EUGR/PGF are unhelpful include, they: (i) are not predictive of adverse outcome; (ii) are based only on weight without any consideration of head or length growth, proportionality, body composition, or genetic potential; (iii) ignore normal postnatal weight loss; (iv) are usually assessed prior to growth slowing of the reference fetus, around 36-40 weeks, and (v) are usually based on an arbitrary statistical growth percentile cut-off. Focus on EUGR/PGF prevalence may benefit with better attention to nutrition but may also harm with nutrition delivery above infants' actual needs. In this paper, we highlight challenges associated with such arbitrary cut-offs and opportunities for further refinement of understanding growth and nutritional needs of preterm neonates.

Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study.

BACKGROUND: Direct-to-consumer BRCA testing will increase BRCA diagnoses and subsequent abdominal imaging. It is unclear whether BRCA carriers are at higher risk of developing pancreatic cysts (PCs) or cyst-associated pancreatic ductal adenocarcinoma (PDAC). We investigated the prevalence of PCs in BRCA-tested patients, and whether BRCA-carriers have higher rates of PDAC when PCs are found. STUDY DESIGN: This is a retrospective cross-sectional study of patients with BRCA testing and abdominal imaging between 1996 and 2018. Pancreatic cysts were identified on original imaging reports. Prevalence and risk characteristics of PCs, as well as incidence of PDAC, were compared between BRCA+, BRCA-, and BRCA-untested patients. RESULTS: Pancreatic cysts were identified in 4,045 patients among 128,164 unique patients with abdominal imaging, including 33 patients with PCs in 1,113 BRCA-tested patients. There was no difference in PC prevalence between BRCA+, BRCA-, and untested patients (3.6%, 2.6%, 3.2%, respectively; p = 0.64). Pancreatic cysts were diagnosed in BRCA+ patients at a younger age (57.1 vs 65.3 years, p < 0.001); however, there was no difference in risk stratification compared with BRCA- or untested patients by consensus criteria. Across the population of imaged patients, patients with PCs had significantly higher rates of PDAC compared with those without PCs (18.2% vs 2.4%, p < 0.001). Incidence of cyst-associated PDAC was similar in BRCA+ and BRCA- patients (13.3% vs 22.2%, p = 0.84). CONCLUSIONS: BRCA+ patients have similar rates of PCs, high-risk features in their cysts, and PDAC as BRCA- and untested patients. BRCA+ patients likely do not require dedicated abdominal imaging to evaluate for PCs and should follow management guidelines similar to those as the untested general population if an incidental PC is identified.

Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.

MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c.1187G > A (p.Gly396Asp) as well as a heterozygous variant of unknown significance (VUS) in MUTYH in exon 14, c.1379T > C (p.Leu460Ser). We interpret the VUS as pathogenic in light of the patient's phenotype; the fact that the VUS was in trans with a known pathogenic variant; and because all the in silico predictors suggested, it was likely to be deleterious. This case highlights the importance of a gastroenterologist recognizing the indication for genetic testing in a patient with greater than ten adenomas, the importance of a genetic counselor in interpretation of results, and is the first report of the specific variant in the literature with clinical information to suggest that it is likely pathogenic.

Genetic Structure of First Nation Communities in the Pacific Northwest.

This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal, and autosomal DNA variants, we aimed to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses: genetic variation was more strongly explained by geographic proximity than by linguistic structure. Our findings were corroborated through a variety on analytic approaches, with the unrooted trees for the three genetic systems consistently separating inland from coastal PNW populations. Furthermore, analyses of molecular variance support the trends exhibited by the unrooted trees, with geographic partitioning of PNW populations (FCT = 19.43%, p = 0.010 ± 0.009) accounting for over twice as much of the observed genetic variation as linguistic partitioning of the same populations (FCT = 9.15%, p = 0.193 ± 0.013). These findings demonstrate a consensus with previous PNW population studies examining the relationships of genome-wide variation, mitochondrial haplogroup frequencies, and skeletal morphology with geography and language.

Strategies of Asian, Hispanic, and non-Hispanic white parents to influence young adolescents' intake of calcium-rich foods, 2004 and 2005.

INTRODUCTION: Optimal intake of dietary calcium is critical to prevent osteoporosis later in life, yet most young adolescents do not consume the recommended amount. We describe parental strategies that can influence young adolescents' calcium intake in Asian, Hispanic, and non-Hispanic white households METHODS: A qualitative research design employed semistructured individual interviews with a convenience sample of mostly female parents self-reported as Asian (n = 48), Hispanic (n = 44), or non-Hispanic white (n = 76) having a child aged 10 to 13 years at home. Interviews were conducted in homes or community centers in 12 states. Interview data were analyzed by using qualitative data analysis software and thematic content analysis procedures. RESULTS: Parents monitored calcium intake by making calcium-rich foods available, preparing calcium-rich foods, and setting expectations that children would consume calcium-rich foods. As mentors, parents encouraged intake of calcium-rich foods and advised children to moderate or increase intake of specific foods. Although parents perceived modeling of calcium intake as important, some were ambivalent about its effects. We noted minimal differences by racial/ethnic groups and sex of children in reported availability of selected calcium-rich foods at home, parental modeling of intake, and mentoring behaviors. CONCLUSION: Our findings suggest that interventions to help parents increase children's intake of calcium should focus on types of foods made available, giving age-appropriate encouragement and advice, and modeling proper intake.

At-home and away-from-home eating patterns influencing preadolescents' intake of calcium-rich food as perceived by Asian, Hispanic and Non-Hispanic white parents.

OBJECTIVE: To explore at-home and away-from-home eating patterns influencing Asian, Hispanic, and non-Hispanic white preadolescents' intake of calcium-rich food from a parental perspective. DESIGN: Individual semistructured interviews. SETTING: Home or community site. PARTICIPANTS: Convenience sample (n = 201) of self-reported Asian (n = 54), Hispanic (n=57), and non-Hispanic white (n = 90) parents of 10- to 13-year-old children recruited from community youth programs. PHENOMENON OF INTEREST: Description of at-home and away-from-home family eating patterns. ANALYSIS: NVivo software to code and sort transcript segments, qualitative data analysis procedures. RESULTS: Participants from all groups shared common at-home and away-from-home meal patterns. A lack of time often resulted in negative factors that impacted intake of calcium-rich food and beverages including breakfast on the run, fewer home-prepared or shared family meals, and more frequent meals eaten away from home. Asian and Hispanic parents indicated eating out less frequently than non-Hispanic white parents. Parents from all groups lacked expectations for their child to drink calcium-rich beverages with meals. CONCLUSIONS AND IMPLICATIONS: Practical strategies are needed to facilitate intake of calcium-rich food and beverages through more frequent family meals at home and parental expectations for children's intake of calcium-rich beverages with meals.

Development of a decision tree to determine appropriateness of NVivo in analyzing qualitative data sets.

A decision tree was developed to determine when NVivo is an appropriate tool for qualitative analysis. NVivo, a qualitative analysis software package, was used to analyze interviews of 204 Asian, Hispanic, and white parents in 12 states. The experience provided insight into issues that should be considered when deciding to use the software. NVivo can enhance the qualitative research process, quickly process queries, and expand analytical avenues. Before using, however, the following must be considered: training time, establishing inter-coder reliability, number and length of documents, coding time, coding structure, use of automated coding, and possible need for separate databases or additional supporting software.

Nutritional status of schoolchildren in rural Iran.

The present study compared the nutritional status of schoolchildren from recently settled, ethnic minority tribespeople with those from a Persian village in southern Iran. Height and weight were measured and blood was collected from school children at three time points over 1.5 years. Supplemental Fe was provided to children with low Hb after the first screening. Twenty-one per cent of the children were wasted, 57 % were stunted and 23 % were anaemic. No statistically significant difference in the prevalence of wasting, stunting and anaemia was found between gender or ethnic groups. Children over the age of 12 years had a higher prevalence of wasting than children aged below 12 years. In a sub-sample of forty-one children the average BMI-for-age decreased. Fe supplementation increased Hb levels to normal in most children, but did not increase Fe level in a few children. Dietary deficiency of micronutrients, especially Zn and Fe, probably accounts for the high prevalence of stunting and anaemia in these children. Infection with Helicobacter pylori is another possible explanation for the Fe-deficiency anaemia. Further investigation is in progress to determine the cause(s) of the observed deficiencies.

Assessing cardiovascular risk in children: the Jackson, Mississippi CRRIC Study.

According to the NHANES III study, obesity, a cardiovascular risk factor, is now an epidemic in the United States. An estimated 97 million adults and one in five children between 6 and 17 are overweight. The purpose of this pilot study was to determine the prevalence of cardiovascular risk factors among a group of 3rd, 4th, and 5th graders at two randomly chosen elementary schools in Jackson, Mississippi. The sample consisted of 246 ethnic minority children. Results revealed that 16% of the boys had systolic blood pressures at or above the 90th percentile for sex and age and 13% had abnormally high diastolic blood pressures. For girls, 8% exhibited systolic blood pressures and 21% had diastolic blood pressures at or above the 90th percentile. Body mass index (BMI) levels revealed that 39% of the boys and 49% of the girls had BMIs at or above the 85th percentile for age and sex.

Coping with Prader-Willi syndrome.

Weight- and behavior-control issues are major concerns for parents of a child with Prader-Willi syndrome. However, limited information is available on how families implement the necessary dietary restrictions and the effects of the strategies. This study identified the advice a group of families received regarding weight management, the nutrition concerns they faced and how they coped with these concerns, and the effectiveness of their coping strategies. A 2-step survey methodology was used. Survey 1 identified the strategies parents used to cope with the feeding issues typically presented by children with Prader-Willi syndrome. Survey 2 evaluated the frequency with which these coping strategies were used and their effectiveness. Respondents also provided information on why strategies were not effective. Surveys were mailed to 496 parents/guardians of children (aged 25 years or younger) with Prader-Willi syndrome. A total of 293 (64%) responded. Advice given to families centered on general weight management and dietary guidance. Difficulties centered around coping with food-related behaviors. Coping strategies varied; what worked for 1 family did not necessarly work for another. Participants indicated a desire to share experiences and a need for specific strategies to cope with feeding-behavior difficulties. A few basic behavior-management strategies, including successful use of incentives, responding to misbehavior, rewarding compliance with an exercise program, and modifying the behavior management when indicated, are briefly reviewed.