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Despite clinical and technological advances, serious gaps remain in delivering genetic services due to disparities in workforce distribution and lack of coverage for genetic testing and counseling. Genetic services delivery, particularly in medically underserved populations, may rely heavily on primary care providers (PCPs). This study aims to identify barriers to integrating genetic services and primary care, and strategies to support integration, by conducting a scoping review. Literature synthesis found barriers most frequently cited by PCPs including insufficient knowledge about genetics and risk assessment, lack of access to geneticists, and insufficient time to address these challenges. Telegenetics, patient-centered care, and learning communities are strategies to overcome these barriers. Telegenetics supplements face-to-face clinics by providing remote access to genetic services. It may also be used for physician consultations and education. Patient-centered care allows providers, families, and patients to coordinate services and resources. Access to expert information provides a critical resource for PCPs. Learning communities may represent a mechanism that facilitates information exchange and knowledge sharing among different providers. As PCPs often play a crucial role caring for patients with genetic disorders in underserved areas, barriers to primary care-medical genetics integration must be addressed to improve access. Strategies, such as telegenetics, promotion of evidence-based guidelines, point-of-care risk assessment tools, tailored education in genetics-related topics, and other system-level strategies, will facilitate better genetics and primary care integration, which in turn, may improve genetic service delivery to patients residing in underserved communities.

Objective: To evaluate the safety and efficacy of premature infant treatment managed by hybrid telemedicine versus conventional care. Methods: Prospective, noninferiority study comparing outcomes of premature infants at Comanche County Memorial Hospital's (CCMH) Level II neonatal intensive care unit (NICU) with outcomes at OU Medical Center's (OUMC) Level IV NICU. All 32–35 weeks gestational age (GA) infants admitted between May 2015 and October 2017 were included. Infants requiring mechanical ventilation >24 h or advanced subspecialty care were excluded. Outcome variables were: length of stay (LOS), respiratory support, and time to full per oral (PO) feeds. Parents at both centers were surveyed about their satisfaction with the care provided. Between-group comparisons were performed by using Chi-square or Fisher's exact test. LOS was assessed for normality by using the Shapiro–Wilk test, and robust regression was used to construct a multivariable regression model to test the independent effect of location on LOS. All analyses were performed by using SAS v. 9.3 (SAS Institute, Cary, NC). Results: Data from 85 CCMH and 70 OUMC neonates were analyzed. CCMH neonates had significantly shorter LOS, reached full PO feeds sooner, and had fewer noninvasive ventilation support days. Location had a significant independent effect (p = 0.001) on LOS while controlling for GA, gender, race, surfactant use, inborn/outborn status, and 5-min APGAR scores. CCMH patients had reduced LOS of 3.01 days (95% confidence interval 1.1–4.8) than OUMC patients. Eighty-five surveys at CCMH and 66 at OUMC were analyzed. Compared with CCMH, OUMC parents reported more travel distance difficulties. 92.5% reported telemedicine experience as good or excellent, whereas 1.5% reported it as poor. Conclusion(s): Hybrid telemedicine is a safe and effective way to extend intensive neonatal care to medically underserved areas. Parental satisfaction with use of hybrid telemedicine is high and comparable to conventional care.

The aim of this study was to evaluate the level of training, awareness, experience, and confidence of neonatal practice providers in the use of laryngeal mask (LM), and to identify the barriers in its implementation in the neonatal population. Descriptive observational study utilizing an anonymous online questionnaire among healthcare providers at the Oklahoma Children's Hospital who routinely respond to newborn deliveries and have been trained in the Neonatal Resuscitation Program (NRP). Participants included physicians, trainees, nurse practitioners, nurses, and respiratory therapists. Ninety-five participants completed the survey (27.5% response rate). The sample consisted of 77 NRP providers (81%), 11 instructors (12%), and 7 instructor mentors (7%). Among 72 respondents who had undergone LM training, 51 (54%) had hands-on manikin practice, 4 (4%) watched the American Academy of Pediatrics (AAP) NRP educational video, and 17 (18%) did both. Nurses (39 out of 46) were more likely to have completed LM training than were physicians (31 out of 47). With only 11 (12%) participants having ever placed a LM in a newly born infant, the median confidence for LM placement during neonatal resuscitation was 37 on a 0 to 100 scale. Frequently reported barriers for LM use in neonates were limited experience (81%), insufficient training (59%), preference for endotracheal tube (57%), and lack of awareness (56%). While the majority of the neonatal practice providers were trained in LM placement, only a few had ever placed one in a live newborn, with a low degree of confidence overall. Future practice improvement should incorporate ongoing interdisciplinary LM education, availability of LM in the labor and delivery units, and promotion of awareness of LM as an alternative airway.· LM is underutilized as an alternative airway.. · Insufficient experience and training limit LM use.. · Providers confidence with LM placement is low..

Background Managing critically ill neonates has unique challenges, and the transport team plays an important role in stabilizing and facilitating the transfer of these neonates from lower-level nurseries to tertiary centers, and the use of telemedicine in transport (tele-transport) can potentially benefit patient care. We conducted a multicenter study to assess the readiness for utilizing telemedicine as an adjunct to guide the care of critically ill neonates among physicians and transport team members (TTMs). This is the first multicenter study that explored physicians’ and TTMs’ perceptions of telemedicine usage and its value in neonatal transport. Methods A confidential, voluntary survey on pre-implementation attitudes toward telemedicine usage during neonatal transport was conducted as part of a quality improvement initiative. This survey involved physicians and TTMs from four academic institutions whose responses were entered into an online survey using REDCap®. The survey inquired about satisfaction with the current practice of phone consultation and the perception of using telemedicine to optimize the management of neonates during transport. Results The overall response rate for the survey was 60.1%; 82 of 127 (64.6%) physicians and 64 of 116 (55.2%) TTMs responded to the surveys. Half of the physicians and less than one-fourth of the TTMs had prior experience with telemedicine other than that used on neonatal transport. TTMs expressed greater concern about the inconvenience of video (55% vs. physicians 35% agree or strongly agree) and its time consumption (84% vs. physicians 50%). More than 70% of physicians and less than half of TTMs endorsed the potential for added value and quality improvement with video capability. Almost half of TTMs reported concern about video calls reducing their autonomy in patient care. Physicians expressed confidence in management decisions they would make after video calls (72% confident or very confident) and less confidence (49%) about both the phone assessment by TTMs and their decisions based on phone assessment. In contrast, TTMs were confident or very confident (94%) in both sharing their assessment over the phone and executing patient management after a phone call, compared with 70% for decisions made after video calls. Conclusions Physicians and TTMs had distinct opinions on the use of telemedicine during neonatal transport. Physicians were more likely than TTMs to agree with statements about the potential for improving quality of care, while TTMs were more likely than physicians to say video calls would be time-consuming and inconvenient. We speculate some differences may stem from the TTMs’ concern about losing their autonomy. Therefore, during implementation, it is critical for physicians and TTMs to agree on a shared mental model of indications for telemedicine during transport and its value to the patient care.

Background: During the COVID-19 pandemic, telemedicine plays a critical role in providing safe, effective healthcare services, while reinforcing social distancing and optimizing the use of personal protective equipment. In this context, the Oklahoma Children's Hospital implemented virtual neonatology prenatal visits for pregnant women with a diagnosis of fetal anomalies. While tele-consultations have been broadly used with a high degree of acceptance in rural and remote areas, satisfaction has not been assessed in this particular scenario, where patients and physicians discussing sensitive healthcare information had to rapidly adjust to this new modality.Objectives: To evaluate patients' and neonatologists' satisfaction with virtual prenatal consultations in the context of the COVID-19 pandemic and to compare satisfaction levels of patients receiving virtual consultation with those receiving in-person consults.Methods: This cross-sectional study evaluated patients' and neonatologists' satisfaction with virtual consultations. Participants included pregnant women with diagnosis of fetal anomalies who received neonatology prenatal consultations at Oklahoma Children's Hospital, either in-person or through telemedicine, from May to mid-November 2020, and neonatologists providing virtual prenatal consultations in the same period. Virtual visits were delivered via Zoom Pro™. Patients and physicians who agreed to participate rated acceptability completing an anonymous 5-point Likert scale survey. Item frequencies and means for categories of items were computed by group (video-consult patients, in-person patients, physicians) and analyzed, using Welch's t for unequal sample size.Results: Overall consultation quality was rated good or excellent by 35 (100%) video-consult patients and 12 (100%) in-person patients. Patient group means computed on six 5-point Likert items about patient-physician communication did not differ significantly, video-consult: M = 28.71 (2.22); in-person consult: M = 28.92 (1.78) (p = 0.753263). All eight physicians (100%) agreed or strongly agreed that telemedicine was effective, using a 5-point Likert scale, and their combined consultation quality score computed on 10 survey questions was high: M = 46.4 (3.11).Conclusion: Despite patient inexperience with tele-consultations, the quick implementation of telemedicine, and the sensitive reason for the visit, patients and physicians were highly satisfied with virtual visits. Telemedicine is a safe, effective alternative for providing neonatology prenatal consultations for pregnant women with diagnosis of fetal anomalies during the pandemic.

The United States (U.S.) resident Marshallese population is growing rapidly. Subsequent to this growth, Marshallese patients experience language and cultural barriers when attempting to access medical care in the U.S. This study: (a) documents how the Marshallese refer to biological and adopted family members; (b) identifies barriers encountered by Marshallese when seeking medical care; and (c) describes effective communication strategies for healthcare providers to use when treating Marshallese patients. Six key informant interviews were conducted in English with bicultural (U.S. and native Marshallese) informants, the majority of whom were women who worked in a healthcare setting. Participants were recruited through the Center for Pacific Islander Health in Arkansas and through personal contacts within the Marshallese community. Based on the study findings, examples of how providers can make genetic services more accessible and meaningful for Marshallese patients are also provided. This study is particularly relevant to genetic counselors as the number of Marshallese patients and families needing their services is growing.

More than 90% of neonatal intensive care units (NICUs) in the United States are in urban areas, denying rural residents' easy NICU access. Telemedicine use for patient contact and management, although studied in adults and children, is understudied in neonates. A hybrid telemedicine system, with 24/7 neonatal nurse practitioner coverage and with a neonatologist physically present 3 days per week and telemedicine coverage the remaining days, was recently implemented at Comanche County Memorial Hospital's (CCMH) Level II NICU.To compare outcomes of moderately ill infants between 32-35 weeks gestational age (GA) managed by our hybrid telemedicine program with outcomes of similar neonates receiving standard care in a Level IV NICU at Oklahoma University Medical Center (OUMC).This was a retrospective, noninferiority study comparing outcomes of neonates receiving hybrid telemedicine versus standard care. All 32-35 weeks GA infants admitted between July 2013 and June 2015 were included. OUMC infants came from areas geographically comparable with CCMH. Infants requiring prolonged mechanical ventilation or advanced subspecialty services were excluded. Outcome variables were length of stay, type and duration of respiratory support, length of antibiotic therapy, and time to full enteral feedings.Eighty-seven neonates at CCMH and 56 neonates at OUMC were included in the analysis. Compared with neonates at OUMC, neonates at CCMH had shorter hospitalizations, fewer days of supplemental oxygen, and fewer noninvasive ventilation support days, and reached full enteral feeds sooner.The hybrid telemedicine system is a safe and effective strategy for extending intensive care to neonates in medically underserved areas.

OBJECTIVE Transfusion Associated Necrotizing Enterocolitis (TANEC) is defined as the onset of necrotizing enterocolitis (NEC) within 48 hours of receiving a blood transfusion in preterm neonates. We wanted to determine if hematocrit changes following blood transfusions were associated with disease development. PATIENTS AND METHODS This is a case-control analysis of inborn neonates ≤32 weeks' gestational age, from January 1, 2007 and December 31, 2010, who were diagnosed with Bell stage II or greater NEC. Those meeting TANEC criteria were identified and an analysis completed to determine if beginning or ending hematocrit values were associated with an increased risk for disease development. RESULTS Nineteen of forty-nine (39%) infants with NEC met the criteria for TANEC. We found no differences in gestational age at birth or birth weight in our experimental groups. The degree of illness including PDA, IVH, central line use, and respiratory support 48 hours prior to disease onset was also similar between groups. Those with TANEC had higher modified Bell staging of NEC and were more likely to be receiving full enteric feeds at the time of NEC onset. No statistically significant differences were found in hematocrit levels prior to or following the blood transfusion closest to NEC onset in the TANEC group, as compared to classic NEC (CNEC) or control infants. CONCLUSION The onset of NEC following transfusion occurs with a frequency that invites investigation regarding causation. Our data indicates no association between the beginning and ending hematocrit values and TANEC in our patient population.

Objective: Musculoskeletal pain commonly occurs in the elderly, many of whom are also prone to suffer from strokes. We studied whether short-term use (≤ 4 weeks) of cyclooxygenase-2 (COX-2) inhibitors for musculoskeletal pain in stroke patients helped them to participate in their therapies and was safe and efficacious. Materials and Methods: Three hundred and three patients admitted consecutively with first ischemic stroke were studied. Two cohorts were defined, based on whether patients with acute stroke had sufficient musculoskeletal pain that warranted oral COX-2 inhibitors (COX-2 group) or not (case-matched controls). Primary efficacy measures were change in Fugl-Meyer (F-M) pain score and change in total functional independence measure (TFIM) scores on discharge from hospital. Safety was judged by the incidence of vascular episodes during the study period. Results: From the original 303 patients, 64 patients in the COX-2 group were matched with 64 patients in the non-COX-2 group. The groups were matched for age (±5 years), gender, and admission TFIM score (± 5 points). Baseline characteristics between the 2 groups were similar. The primary and secondary outcome measures were similar between the 2 groups, except for ambulation endurance, which favored the non-COX-2 group (P < 0.03). Greater change in the pain score (less pain) was found in the COX-2 group; this effect was strongest in patients who were independent prior to their stroke (on post hoc analysis). There were too few adverse events in either group of any significance. Conclusions: The short-term use of COX-2 inhibitors reduced musculoskeletal pain in acute stroke patients, improved functional motor outcome, and were found to be safe.

BACKGROUND Cancer is the second leading cause of death among women of reproductive age. Although the coincidence of pregnancy and cancer is rare and treatment may sometimes be safely delayed, the use of chemotherapeutic agents in pregnancy is sometimes unavoidable or inadvertent. METHODS We review the literature for the use of antineoplastic agents in single-agent and combination therapy from 1951 through June 2012. We also summarize the evidence relating to teratogenicity of disorder-specific combination chemotherapy treatments for those malignancies frequently encountered in women of childbearing age. Major endpoints were called “adverse pregnancy outcomes” (APOs), to include structural anomalies (congenital malformations), functional defects, blood or electrolyte abnormalities, stillbirths, spontaneous abortions (miscarriages), and fetal, neonatal, or maternal deaths. RESULTS The registry totals 863 cases. Rates of APOs (and congenital malformations) after any exposure were 33% (16%), 27% (8%), and 25% (6%), for first, second, and third trimesters. Among the groups of cancer drugs, antimetabolites and alkylating agents have the highest rates of APOs. Mitotic inhibitors and antibiotics seem more benign. Mixed results were observed from single-agent exposure, often because of small numbers of exposures. As a whole, the alkylating agents and antimetabolites are more harmful when given as a single agent rather than as part of a regimen. First-trimester exposure poses a more permanent risk to the fetus. CONCLUSIONS Systematic ascertainment of women early in pregnancy, preferably in a population base, is needed for assessment of true risks. Long-term follow-up is needed to rule out neurobehavioral effects. Birth Defects Research (Part A) 94:626–650, 2012. © 2012 Wiley Periodicals, Inc.

Objective Race has been shown to affect stroke-related morbidity and mortality. The purpose of this study was to determine the influence of race on rehabilitation functional outcomes in patients with an acute stroke admitted to a designated stroke rehabilitation unit. Design A 2-yr prospective study was conducted of 670 patients admitted to an acute stroke rehabilitation unit within 30 days after an acute stroke. Demographic data along with admission and discharge Functional Independence Measure scores were recorded in a computerized stroke database. Patients participated in a standardized rehabilitation program 5 days a week for a length of stay dependent upon their individual needs. Results The distribution of patients by race was 504 whites, 115 blacks, 38 Hispanics, and 13 Asians. The mean age of the study population was 70 yrs. Whites had a higher prevalence of atrial fibrillation, and blacks, Hispanics, and Asians had a higher prevalence of hypertension and diabetes mellitus. The primary and secondary functional rehabilitation outcomes were similar for all four groups after similar intensity of therapy (3.5 hrs daily). Conclusions This study suggests that race does not influence rehabilitation functional outcomes in patients with acute stroke undergoing rehabilitation for the same intensity of therapy if admitted soon after their acute stroke.

Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, developmental delay, dysmorphic features, seizure, hypotonia, microcephaly and hypoplasia of the corpus callosum. The smallest overlapped region is approximately 0.4 Mb, and contains three known genes. Of these genes, TBP has been considered as a plausible candidate gene for the phenotype in patients with a subtelomeric 6q deletion. Analysis of the breakpoints in 14 cases revealed a potential common breakpoint interval 8.0-9.0 Mb from the chromosome 6q terminus where the FRA6E fragile site exists and the PARK2 gene is located. This suggests that breakage at the FRA6E fragile site may be the mechanism behind chromosome 6q subtelomeric deletion in some of the cases.

Objective To compare neonatal intensive care unit (NICU) admission rates and length of stay (LOS) of late preterm infants (LPIs) born before and after opening a specialized care nursery (SCN) at our academic, pediatric tertiary care center with ∼4,500 total deliveries annually. Study Design Retrospective chart review of inborn LPIs (350/7–366/7 weeks) who were asymptomatic or minimally symptomatic at birth and delivered 7 months before the opening of the SCN (pre-SCN) or 7 months subsequently (post-SCN). Infants were excluded for major congenital anomalies or other conditions requiring immediate NICU admission. The pre-SCN options for care were standard couplet care or NICU. The post-SCN options for care were standard couplet care, SCN, or NICU. Results Pre-SCN (n = 109), 73 (67%) infants received standard couplet care, while 36 (33%) infants were ever admitted/transferred to the NICU. Post-SCN (n = 112), 59 (53%) infants received standard couplet care, while 20 (18%) were ever admitted/transferred to the NICU. A total of 33 (29%) infants were admitted/transferred to the SCN and avoided a NICU stay. Median LOS for all infants was 3 days. Conclusion The frequency of LPIs admitted/transferred to the NICU decreased by ∼50% after the opening of the SCN. LOS did not differ by birth cohort, but did differ significantly by location of care (standard couplet care

To evaluate the impact of implemented protocol changes on delivery room interventions and very low birth weight (VLBW) health outcomes.Retrospective study comparing birth characteristics, interventions and health outcomes of VLBW infants born in a tertiary care center before (calendar years 2008 to 2009) and after (calendar years 2012 to 2013) implementing new protocols using Chi-square analyses.Four hundred and nine were born before and 303 after changes were implemented. Postimplementation infants had more use of antenatal steroids (P=0.02), gestational age ⩽24 weeks (P=0.03) and birth weights between 501 and 750 g (P=0.04) and less oxygen administration (P=0.002), face mask ventilation (P=0.0001), surfactant use (P=0.0001), chest compressions (P=0.0001), intubation (P=0.002), epinephrine use (P=0.011), hypothermia (P=0.0001) and discharges home on supplemental oxygen (P=0.05).Changes creating a new delivery team, adopting new delivery practice guidelines and updating delivery room equipment resulted in positive outcomes for delivery room practices and patient outcomes.

Neurocognitive functions were compared in alcoholic, schizophrenic, and dually diagnosed (schizophrenic and alcoholic) patients and community control volunteers. Participants (N = 52, n = 13 in each group) completed a brief battery including two measures of neuropsychological function and two affective measures. The neuropsychological tests included the Trail-Making Test Forms A and B and a face-recognition test. The affective measures included assessment of anxiety and depression. The major objective was to compare the patterns of neurocognitive performance among the four groups. The groups did not differ in mean age (35.37) or years of education (12.46). Compared with the community control and alcoholic groups, the schizophrenic groups reported higher mean depression (12.92 vs. 5.54) and mean state anxiety scores (60.73 vs. 46.04). Control subjects were generally, although not always significantly, superior to the other groups. Contrary to expectations, alcoholic patients were not consistently better than the schizophrenic groups, and dually diagnosed participants were not more impaired than schizophrenic patients without substance abuse histories. Thus, the interaction of schizophrenia and substance abuse did not have an additive effect on neurocognitive performance assessed in this study. More research using this complete four-group design and a larger neurocognitive battery is needed.

This study describes a sample of Latino/as in substance abuse treatment. We were interested in substance use patterns, gender differences, family history of addiction, and depression. Questionnaires completed by Latino/as (N = 209) were identified from 12,000 sets completed by participants in treatment from 1993–2003. Significant gender differences emerged, with Latinas reporting higher rates of stimulant abuse and depression. A family history of substance use disorders in primary or secondary family members was reported by 91% of participants. These data suggest that understanding gender differences related to substance use and depression among Latino/as in treatment warrants attention.

Substance abuse treatment programs have long contended that any post-treatment alcohol use is indicative of relapse. Recent studies, however, suggest more inclusive definitions. Zweben and Cisler (1996, 1999) consider both the drinking quantity and negative drinking consequences. Their proposed cutoffs integrate the 1995 NIAAA guidelines for sensible and high risk drinking levels with the objective assessment of drinking-related consequences into the definition of relapse. Our study applied this model to a group of detoxified alcoholics in a post-treatment followup project. We asked if: (1) Zweben and Cisler's drinking categories could be found in our sample; (2) whether subgroups defined by post-treatment drinking patterns differed with respect to their pre-treatment alcohol consumption levels, years of alcoholic drinking and drinking related problems; and (3) whether post-treatment drinking patterns were associated with differential psychosocial functioning at followup. Thirteen percent of the total sample (N=61) was found to meet Zweben and Cisler's moderate drinking category; 34% were abstinent, 27% heavy drinkers and 13 participants (26%) were unclassifiable. At treatment completion (T1), those who became moderate drinkers reported higher levels of self-confidence, but were otherwise similar to both abstainers and heavy drinkers. At followup (T2), approximately 1 year after initial testing (T1), groups differed on measures of emotional discharge, avoidance and logical coping skills and information seeking, suggesting a possible association between post-treatment drinking patterns and psychosocial functioning.

Four gastric carcinoma cell lines (CRL-1739TM, CRL-5822TM, CRL-5971TM and CRL-5973TM), established in the 1970s and 1980s, were purchased from ATCC. These cell lines have been distributed throughout the world and are regularly used for biomedical research. Cytogenetic information is available for three of these cell lines, and two of the three are known to have complex chromosomal rearrangements, though these have not been well characterized. In part, this is due to the complexity of chromosomal changes and the limited ability of G-banded chromosome analysis. Establishing a genomic profile of these cell lines is vitally important, so that their genotypes and phenotypes can be compared. In the current study, G-banded chromosome analysis, array CGH and FISH analyses were performed on these 4 cell lines. The G-banded chromosome analysis was performed and followed by array CGH using 720k oligonucleotide based array chip. The imbalanced regions and chromosome rearrangements, detected by G-banded chromosome and array CGH analyses, were confirmed by FISH using the appropriate DNA probes. Based on the combined data generated by these assays, we established genomic profiles of each cell line; deletions, duplications, translocations and insertions and a chromosomal homogenous staining region. Deletions of 3p and 18q, duplication of 8q, 19q and extra chromosome 20 were found to be common. These findings are consistent with array CGH analyses of fresh gastric tumor samples (data to be presented separately). The results of this study are important as they will provide important information on the status of genomic profiles, allow the expression patterns of gene(s) to be compared, and provide a mechanism for monitoring the genomic changes in these cell lines. This information, we believe, will allow laboratories to make more informed decisions about the need for replacing existing cell lines due to changes in their biological characteristics. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 3913. doi:10.1158/1538-7445.AM2011-3913