Search

When mapped to the environments we interact with on a daily basis, the 36 million microbial cells per hour that humans emit leave a trail of evidence that can be leveraged for forensic analysis. We employed 16S rRNA amplicon sequencing to map unique microbial sequence variants between human skin and building surfaces in three experimental conditions: over time during controlled and uncontrolled incidental interactions with a door handle, and during multiple mock burglaries in ten real residences. We demonstrate that humans (n = 30) leave behind microbial signatures that can be used to track interaction with various surfaces within a building, but the likelihood of accurately detecting the specific burglar for a given home was between 20-25%. Also, the human microbiome contains rare microbial taxa that can be combined to create a unique microbial profile, which when compared to 600 other individuals can improve our ability to link an individual 'burglar' to a residence. In total, 5512 discriminating, non-singleton unique exact sequence variants (uESVs) were identified as unique to an individual, with a minimum of 1 and a maximum of 568, suggesting some people maintain a greater degree of unique taxa compared to our population of 600. Approximate 60-77% of the unique exact sequence variants originated from the hands of participants, and these microbial discriminators spanned 36 phyla but were dominated by the Proteobacteria (34%). A fitted regression generated to determine whether an intruder's uESVs found on door handles in an office decayed over time in the presence or absence of office workers, found no significant shift in proportion of uESVs over time irrespective of the presence of office workers. While it was possible to detect the correct burglars' microbiota as having contributed to the invaded space, the predictions were very weak in comparison to accepted forensic standards. This suggests that at this time 16S rRNA amplicon sequencing of the built environment microbiota cannot be used as a reliable trace evidence standard for criminal investigations.

Background/Aims: Neighborhood walkability is associated with indicators of health in the general population. We explored the association between neighborhood walkability and daily steps in hemodialysis (HD) patients. Methods: We measured daily steps over 5 weeks using Fitbit Flex (Fitbit, San Francisco, CA, USA) and retrieved Walk Score® (WS) data by patient’s home ZIP code (www.walkscore.com; 0 = poorest walkability; 100 = greatest walkability). Results: HD patients took a mean of 6,393 ± 3,550 steps/day (n = 46). Median WS of the neighborhood where they resided was 28. Patients in an above-median WS (n = 27) neighborhood took significantly more daily steps compared to those (n = 19) in a below-median WS neighborhood (7,514 ± 3,900 vs. 4,800 ± 2,228 steps/day; p < 0.001, t test). Daily steps and WS were directly correlated (R = 0.425; p = 0.0032, parametric test; R = 0.359, p = 0.0143, non-parametric test). Conclusion: This is the first study conducted among HD patients to indicate a direct relationship between neighborhood walkability and the actual steps taken. These results should be considered when designing initiatives to increase and improvise exercise routines in HD populations.

Background/Aims: Hemodialysis (HD) patients are less active than their healthy counterparts. They are often plagued with sleep disorders that affect the quality of their sleep. Our aim was to objectively quantify activity and sleep quality among HD patients in a suburban HD population. Methods: Activity and sleep parameters were measured using a commercially available activity tracker in 29 HD patients from Baton Rouge, LA, USA. Patients in the feedback group received their activity and sleep data at each dialysis treatment. In addition, questionnaires were administered at the beginning and end of the study period. Patients were stratified based on activity levels and sleep quality. Results: Patients walked an average of 5,281 steps/day and slept 370.5 min/night. Informing patients about their daily number of steps taken, did not increase activity. Only 3% of the population followed were active, defined as walking more than 10,000 steps per day. Patients walked significantly less on dialysis days compared to the other days of the week. Many of the patients experienced poor sleep quality, with patients in the first shift experiencing the greatest disturbance to their sleep/wake cycle. Conclusion: Patients in a suburban environment walked much less than those in a previously studied urban population. They rarely met the recommended goal of 10,000 steps/day, even on non-dialysis days. Interventions to increase physical activity may target any day of the week, particularly HD days. Prospective, long-term studies are needed to evaluate the use of activity trackers in dialysis patients and their impact on physical activity.

ObjectiveTo evaluate whether food behaviours of parents are associated with children's dietary intakes outside the child-care setting, and to compare children's dietary intakes at home with foods and beverages consumed when they are at child-care centres.DesignIn 2005–2006, a survey was completed by parents of at least one child between 3 and 5 years old who attended group child-care centres. Surveys about nutrition practices were completed by centre directors. Research assistants observed foods and beverages consumed by children at lunchtime at the centres.SettingSixteen licensed group child-care centres in three underserved New York City communities (South Bronx, East/Central Harlem, Central Brooklyn) and the Lower East Side of Manhattan.SubjectsTwo hundred parents.ResultsChildren were more likely to consume healthful foods including fruits or vegetables if parents reported purchasing food from produce stands/farmers’ markets, shopped for frozen or canned fruits frequently and ate family meals or meals prepared at home daily. Children were more likely to consume less healthful foods such as French fries, or fruit drinks, more frequently if parents reported eating meals from fast-food or other restaurants at least once weekly, or if children ate while watching television. Types of foods and beverages offered to children at home (e.g. higher-fat milk, soft drinks and desserts) were less healthful than those offered at child-care centres.ConclusionsChildren's dietary intakes at home need to be improved. Parents need to understand the importance of providing home environments that support healthful food behaviours in children.

Early childhood is a critical time to establish nutrition habits to prevent obesity. At least half of US children spend time in care outside of the home, where little is known about their dietary intakes and nutrition environment. The purpose of this study was to evaluate nutrition practices of group child-care centers in New York City and to assess whether dietary intakes of children at these centers meet nutrition recommendations. In 2005 and 2006, student research assistants administered surveys to directors of 40 child-care centers in three underserved communities (Central Brooklyn, East/Central Harlem, South Bronx) and in Manhattan, gathered menus, and observed beverages and foods consumed by 240 3- and 4-year-old children. Almost all centers provided beverages and foods recommended by national guidelines, including reduced-fat milk, 100% fruit juice, and whole grains. Some centers also provided higher-fat milk and sugar-sweetened beverages, but no centers provided soda. Drinking water was available in classrooms at only half of the centers. From observations at meal and snack times between 8 AM to 2 PM,50% of children ate at least half of the daily recommended intake for each of five main food groups, with only 17% of children eating at least half of the daily recommended intake for vegetables and only 5% of children eating at least half of the daily recommended intake for vitamin E. Although many centers provided healthful beverages and foods to children, further efforts are needed to make water available as a beverage throughout the day and to improve dietary intakes, especially of vegetables and vitamin E-containing foods.

Farmers' markets are an increasing priority for communities and health advocates. They contribute to the health of community members and the economic livelihood of small farms. Despite increasing recognition of the positive impact that farmers' markets have in revitalizing communities, relatively little is published on strategies that sustain markets in lower income communities. This paper describes how community level factors, federal food assistance programs and related public policies have an effect on farmers' markets in underserved areas. Best practices for developing and maintaining markets are discussed, as well as strategies to help sustain markets, such as expanded access to federal food assistance programs and use of bonus vouchers. Policy issues for improving healthy food access in low income communities are also discussed.

The objective of the study was to assess the relations of socioeconomic and behavioral factors to frequent consumption of sugar-sweetened soda among New York City (NYC) adults and the relation of frequent consumption to body mass index (BMI; kg/m(2)). Data from the 2005 NYC Community Health Survey, a population-based telephone survey, were analyzed. Frequent consumption was defined as drinking one or more 12-oz servings of sugar-sweetened soda on an average day; 9,865 adults, aged 18 years and older, provided valid responses. Logistic regression was used to identify factors associated with frequent consumption, and linear regression models were used to assess the relation of frequent consumption to BMI. An estimated 27.5% of NYC adults are frequent sugar-sweetened soda consumers. Frequent consumption is independently associated with low household income (odds ratio [OR] = 1.7, 95% confidence interval [CI] 1.4-2.1 for200% vs.or =600% federal poverty level) and with ethnic group and nativity (e.g., OR = 3.1, 95% CI 2.6-3.7 for U.S.-born blacks vs. whites). Men report more consumption then women, but an association of less education with frequent consumption is stronger among women. Adjusting for demographics, frequent consumption is associated with more television viewing and with less physical activity. Adjusting for demographics and behaviors, frequent consumption was associated with higher BMI among women (0.7 BMI units, 95% CI 0.1-1.2) but not among men. Disparities in sugar-sweetened soda consumption mirror obesity disparities. Improved surveillance and interventions are needed to better quantify and reduce consumption of sugar-sweetened beverages, especially in groups most impacted by obesity.

Objective: Subtle signs and symptoms of Huntington disease (HD) are often present before impairments reach a point where the neurologic disease is manifest and a diagnosis must be considered. The objective is to examine the prognostic significance of these early clinical signs and symptoms regarding time until unequivocal clinical HD diagnosis. Methods: We analyzed longitudinal data from 218 at-risk but healthy participants in the Huntington Study Group database who had either normal motor examination results or minimal soft motor signs at first observation. This group was followed periodically in HD clinics for up to 4.5 years. We used survival analysis to examine predictors of time until HD diagnosis. Results: Diagnostic prediction was significantly improved using specific, nonredundant items from the Unified Huntington9s Disease Rating Scale. When a movement disorder specialist initially had a global impression of “soft signs” present, cumulative relative risk of diagnosis was 4.68 times greater at 1.5 years of follow-up and 3.58 at 3 years. A neuropsychological test pattern with psychomotor speed 1 SD worse than a semantic knowledge measure increased cumulative risk by 1.99 times at 1.5 years and 1.81 at 3 years. Finally, reports of various subjective HD symptoms increased 3-year relative risk by 2.6 to 3.4. Conclusions: Findings demonstrate that neuropsychological performance and both the clinician rating and the patient subjective perception of motor difficulties contribute nonredundantly to a prediction of Huntington disease diagnosis. These findings may have implications for prognostic assessment of persons at risk and eventually assist with early interventions.

Supplemental Digital Content is Available in the Text. This article describes a process to implement an eligibility analysis for healthy food financing programs and shares lessons learned from administering the Pennsylvania, New York, and New Orleans healthy food financing programs over the course of the past 9 years., Public health obesity prevention experts have recently emphasized a policy systems and environmental change approach. Absent, however, are studies describing how practitioners transition from policy adoption to implementation. In the realm of food policy, financing programs to incentivize healthy food retail development in communities classified as “underserved” are underway at the local, state, and national levels. Implementing these policies requires a clear definition of eligibility for program applicants and policy administrators. This article outlines a methodology to establish eligibility for healthy food financing programs by describing the work of The Food Trust to coadminister programs in 3 distinct regions. To determine program eligibility, qualitative assessments of community fit are needed and national data sources must be locally verified. Our findings have broad implications for programs that assess need to allocate limited public/private financing resources.

Utilizing a model drawn from both transaction cost economics and social exchange theory, we analyze determinants of strategic flexibility in a sample of strategic alliances involved in joint development agreements or joint research pacts. Findings indicate that, in general, determinants suggested by transaction cost economics provided flexibility in modification and inflexibility in exit. From social exchange theory, trust was found to be positively related to both types of flexibility while another component of social exchange theory, dependence, was found to be negatively related to the strategic flexibility of the alliance. Results also found that factors suggested by both transaction cost economic theory and social exchange theory were related to the concept of trust. Economic constraints as suggested by transaction cost economics were positively related to trust between the alliance partners while dependence was negatively related to trust. Additionally, the quality of communication and the existence of shared values were positively related to trust between the exchange partners. Results provide support for the role of determinants from both transaction cost economics and social exchange theory in the flexibility of strategic alliances.

We surveyed 7318 customers from 275 randomly selected restaurants of 11 fast food chains. Participants purchased a mean of 827 calories, with 34% purchasing 1000 calories or more. Unlike other chains, Subway posted calorie information at point of purchase and its patrons more often reported seeing calorie infomation than patrons of other chains (32% vs 4%; P

1. I can do it, you can do it: a community development approach to health promotion for individuals with disabilities M. Elizabeth Kemeny, Robert Arnold and Michael Marge 2. Community-wide obesity prevention: re-connecting public health, urban planning, and public policy in three Missouri communities Phillip Valko, Jennifer Allen, Cynthia Mense, Sarah Worthington, Janice Sommers, Ross Brownson and Mariah Dreisinger 3. Opportunity for Unity collaborative: building healthy communities by empowering young adults Melissa M. Pearrow 4. Home grown: the trials and triumphs of starting up a farmers' market in Waianae, Hawaii Christy Inda, Anuenue Washburn, Sheila Beckham, Bryan Talisayan and Desiree Hikuroa 5. Using health impact assessment in community development to improve air quality and public health Kim Gilhuly, Marnie Purciel, Lili Farhang, Jennifer Lucky, Emily Celia Harris, Jonathan Heller and Edmund Yet Wah Seto 6. Farmers' markets in low income communities: impact of community environment, food programs and public policy Candace Young, Allison Karpyn, Nicky Uy, Katy Wich and Jonathan Glyn 7. Ciclovia in Chicago: a strategy for community development to improve public health Maryann Mason, Sarah B. Welch, Adam Becker, Daniel R. Block, Lucy Gomez, Adolfo Hernandez and Yolanda Suarez-Balcazar 8. Applying innovative approaches to address health disparities in native populations: an assessment of the Crow Men's Health Project Paul R. Lachapelle, Tim Dunnagan and James Real Bird 9. Nuestro futuro saludable: connecting public health research and community development in partnership to build a healthy environment Linda S. Martinez, Uchenna Ndulue and Flavia C. Perea 10. Public health agenda setting in Louisiana: an applied index and implications for community development policy Lesley Taylor Grover and Eric Horent

ObjectiveNumerous localities have mandated that chain restaurants post nutrition information at the point of purchase. However, some studies suggest that consumers are not highly responsive to menu labelling. The present qualitative study explored influences on full-service restaurant customers’ noticing and using menu labelling.DesignFive focus groups were conducted with thirty-six consumers. A semi-structured script elicited barriers and facilitators to using nutrition information by showing excerpts of real menus from full-service chain restaurants.SettingParticipants were recruited from a full-service restaurant chain in Philadelphia, Pennsylvania, USA, in September 2011.SubjectsFocus group participants were mostly female, African American, with incomes n 12) reported changing their order after seeing nutrition information on the menu.ResultsThree themes characterized influences on label use in restaurants: nutrition knowledge, menu design and display, and normative attitudes and behaviours. Barriers to using labels were low prior knowledge of nutrition; displaying nutrition information using codes; low expectations of the nutritional quality of restaurant food; and restaurant discounts, promotions and social influences that overwhelmed interest in nutrition and reinforced disinterest in nutrition. Facilitators were higher prior knowledge of recommended daily intake; spending time reading the menu; having strong prior interest in nutrition/healthy eating; and being with people who reinforced dietary priorities.ConclusionsMenu labelling use may increase if consumers learn a few key recommended dietary reference values, understand basic energy intake/expenditure scenarios and if chain restaurants present nutrition information in a user-friendly way and promote healthier items.

The term "food desert" was formally introduced into the lexicon in 1995 and has come to describe areas with limited access to affordable nutritious foods, particularly areas in lower-income neighborhoods. The definition has led to the development of national and regional maps that focus efforts on equity in food access. Recognition of food deserts also marks a strategic change in public health's approach to obesity prevention. Today's emphasis on prevention has shifted away from individual responsibility to the role of the environment in health promotion. A number of solutions are underway to address food deserts, including public–private financing programs, industry commitments, as well as local and regional efforts to put healthy food within reach. The promise of financing programs to facilitate development of healthy food markets in underserved communities is rooted in their potential to alleviate the grocery gap and address underlying environmental contributors to obesity and diet-related diseases, such as obesity and diabetes. As food desert mapping and related interventions expand, there remains a need for ongoing investigation of impacts and the mechanisms by which impacts are achieved.

Study investigated and found support for the joint influence of strategic alliance performance and dimensions of the context, dependence and embeddedness, on member commitment. Results also indicat...

Aim Next Generation Sequencing (NGS) appears to be the future of HLA high resolution as it can deliver allele level typing without ambiguities. However, NGS is still new in its development and may require a high volume of samples to be cost effective for most clinical labs. The existing well-established Sanger sequencing may give us the allele level typing to meet the clinical needs if a proper strategy is implemented. Our lab has used a group-specific amplification/sequencing approach for over a decade. The percentage of the ambiguities in Sequence-Based Typing (SBT) has increased over the years due to continuous discovery of new alleles. To resolve DRB1 SBT ambiguities, we have evaluated an approach of adding an additional sequencing step. Methods HLA DRB1 typing was performed by using a set of group-specific primers (Protrans DRB1 S4). Ambiguities observed in S4 SBT were then resolved by performing an additional amplification and/or sequencing with selected primers (Protrans Domino Stone). Sequencing data were analyzed and allele level typing was assigned by using SBT software (SeqPilot, JSI). Results Six samples that were initially typed with ambiguities using DRB1 S4 reagent were sequenced with Domino Stones primers. Multiple samples were typed with the same HLA-DRB1 ambiguity. All the ambiguities were resolved with an exception for DRB1*12:01 and 12:10 which are different from each other in exon 1 (Table 1). The final typing assignments can be obtained within 3 days. Conclusions Our typing results suggest that the new approach of adding an additional sequencing step may resolve most of the DRB1 typing ambiguities and deliver the allele level typing needed by transplant clinicians. Studies in resolving ambiguities of HLA DQB1 with Domino Stone primers are under evaluation. Download : Download full-size image

Aim Allogeneic Hematopoietic stem cell transplantation(HSCT) will prolong and improve the quality of life of babies born affected by inherited metabolic diseases. Genetic testing and preparation for a potential HSCT starts at 10 weeks of mother’s pregnancy. This study aims to describe our strategy to obtain an HLA typing from the minuscule tissue fragments submitted for HLA typing in preparation for an HSCT just after birth. Methods Mothers carrying babies that may be affected with Hurler or Krabbe A syndromes are the most frequent challenges at Duke Hospital. As needed, CVS is submitted to our laboratory and DNA is extracted using a micro method developed specifically for these samples to allow High Resolution HLA typing. Since maternal blood contamination of the CVS is a common finding, High Resolution HLA typing on the parents is also done to assist with the identification of all HLA alleles present on the CVS. Our laboratory sequencing strategy for HLA-A, B, C, DRB1 & DQB1 identifies most alleles in a hemizygous form and duplication of the same allele (potential homozygosis) is always resolved by both parents HLA typing. All positive SBT amplification reactions obtained for the CVS DNA are sequenced, and based on parents typing results we are able to identify, first the paternal haplotype present followed by the maternal one. The software SeqPilot®, used for high resolution data analysis, allows the analysis of all positive reactions chosen to be sequenced. Results The CVS samples we have tested (total of 20 cases) have provided the correct pool of alleles expected to be present and it facilitated cord blood searches for these unborn babies, providing an increased chance for successful treatment. Conclusions The HLA typing strategy we apply to CVS is only possible due to our level of expertise extracting DNA from small tissue fragments and the flexibility and data quality offered by the High Resolution HLA Typing methodology and software data analysis we use. The affected and genetic carrier unborn babies get a much higher chance at cure and survival when their diagnosis and treatment can be done earlier in their lives.

Aim An MDS patient has become a candidate for allogeneic hematopoietic stem cell transplantation (HSCT). Samples from patient and five donors were received for HLA typing. HLA-C results were ambiguous in the presence of HLA-C*02:06. We investigated the reason for the variation observed. Methods HLA-Class I high resolution typing was performed by SBT using the group specific strategy (Protrans®S3 HLA-C), allowing most of the alleles to be amplified individually and sequenced as hemizygous. The S3 HLA-C kit sequences the complete exons 2 and 3 of all HLA-C alleles and exon 4 of some. The kit has a locus specific reaction including “all alleles” that we always sequence, since it provides useful data to resolve several relevant ambiguities within exon 4; with the exception of the alleles not having exon 4 data available. This case was unique because some family members were assigned as HLA-C*02:06, 07: AAGAJ (07:01/07:06/07:18/07:343), and others, including the patient, were HLA-C*02:06, 07: ADCTY (07:01/07:06/07:18/07:166/07:343). Upon data review, it was noticed that the multiple NMDP codes referring to the same allele were confusing the clinicians needing to make decisions based on the HLA typing results. We re-sequenced one SBT HLA-C reaction from patient and potential donors to obtain hemizygous data of HLA-C*02:06 exon 4. Results Lack of exon 4 data of HLA-C*02:06 has caused nucleotide position 623 to be ambiguous since only the HLA-C*07:01+ alleles had exon 4 data available. Position 623 was heterozygous on “all alleles” sequencing data of exon 4. We submitted the re-sequenced exon 4 data to IMGT/HLA for review. The submission, HWS 10025170, was confirmed by the WHO Nomenclature Committee for Factors of the HLA System on 02/28/2015. Upon having HLA-C*02:06 exon 4 sequencing data confirmed, we edited the HLA typing reports, the clinicians acknowledged our effort to reduce ambiguities, facilitating their donor selection process; and we made a contribution to the HLA community making exon 4 data of HLA-C*02:06 available at the IMGT/HLA. Conclusions Ambiguities, such as this one, caused by incomplete data of HLA alleles may be prevented when all HLA alleles have complete sequences available, until then, we will keep generating the best resolution results possible using wisely the methods and tools we have available.

To determine whether motor, behavioral, or psychiatric symptoms in Huntington disease (HD) predict skilled nursing facility (SNF) placement.Subjects were participants in the Huntington Study Group's Unified Huntington Disease Rating Scale Database (Rochester, NY) between January 1994 and September 1999. Specific motor, psychiatric, and behavioral variables in subjects residing at home and in SNF were analyzed using chi2 and Student's t-tests. For a subset of subjects for whom longitudinal data existed, a Cox proportional hazards model controlling for age, sex, and disease duration was used.Among 4,809 subjects enrolled, 3,070 had clinically definite HD. Of these, 228 (7.4%) resided in SNF. The SNF residents' average age was 52 years, average disease duration was 8.6 years, and they were predominantly women (63%). The SNF residents had worse motor function (chorea, bradykinesia, gait abnormality, and imbalance, p0.0001); were more likely to have obsessions, compulsions, delusions, and auditory hallucinations; and had more aggressive, disruptive (p0.0001), and irritable behaviors (p = 0.0012). For 1,559 subjects, longitudinal data existed (average length of follow-up, 1.9 years), and 87 (5%) moved from home to SNF. In the Cox model, bradykinesia (HR 1.965, 95% CI 1.083 to 3.564), impaired gait (HR 3.004, 95% CI 1.353 to 6.668), and impaired tandem walking (HR 2.546, 95% CI 1.460 to 4.439) were predictive of SNF placement.Institutionalized patients with HD are more motorically, psychiatrically, and behaviorally impaired than their counterparts living at home. However, motor variables alone predicted institutionalization. Treatment strategies that delay the progression of motor dysfunction in HD may postpone the need for institutionalization.

This paper proposes that impedance cardiography could narrow the gap between heart failure clinical research and the appropriate and timely application of new knowledge and technology in the care of patients with heart failure. Research variables and measurement strategies, identified in the heart failure scientific literature between 1994-1999, are compared to measures that can be obtained through a cost effective, noninvasive technology--impedance cardiography. Emphasis is placed on case reports that illustrate how "real time" evaluation and trending of key hemodynamic variables through impedance cardiography monitoring has been used to apply state of the science knowledge and technology to improve the inpatient and outpatient management of care for patients with severe heart failure. (c)2000 by CHF, Inc.

Aim Ever increasing novel HLA allele discoveries raise in questions about the clinical relevance of these new alleles and their implications of further working on the donor searching process without compromising the timing of patient’s treatment. Our purpose is to bring attention to the novel allele discovery and provide helpful information to clinicians to make timely and right decisions on hematopoietic stem cell transplantation. Method HLA class I and class II high resolution (HR) typing for recipients and donors were performed by Sequence Based Typing (SBT) methodology. When a novel allele was detected, we examined its clinical significance in three locations: (1) peptide binding grooves; (2) T cell Receptor contacting area; (3) HLA Epitope-specific positions. Results Seven novel alleles and two confirmatory alleles (highlighted) have been identified in our routine HLA HR typing by SBT (see table). The position and the substitution of each novel allele was identified and listed on the table. Pocket Residue, TCR accessibility to HLA antigen and Epitope specificity were also described in the table. Conclusions/Discussions Taken together, our analysis suggest thats: (1) a mutation of a silent point mutation without change in amino acid would be considered as clinically irrelevant (C ∗ 08:02:08); (2) a mutation located outside of α1 and α2 domains of HLA class I or outside of β 1 of HLA class II and not HLA Epitope-specific should be considered as clinical insignificant (C ∗ 07:308). (3) a mutation located inside of α1 or α2 domains of HLA class I or inside of β 1 of HLA class II could be considered having less clinical relevance if it does not falls into one of the following three criteria: (a) accommodating any peptide-binding pockets, (b) being TCR accessible or (c) being HLA Epitope specific ( ∗ 44:173, C ∗ 03:183, C ∗ 04:158 and C ∗ 16:39:02); however, it would be considered having potential clinical relevance if it falls into one of those three criteria (DQB1 ∗ 03:45, DQB1 ∗ 03:48 and DQB1 ∗ 06:49).

Aim DQB1∗03:19 allele has been reported to be associated with DRB1∗11:01 or DRB1∗11:02 allele. Here, we report its extended association with DRB1 and DQA1 in our local population. Materials and methods Randomly selected 1425 reports from our routine HLA typing were analyzed for DQB1∗03:19 allele association with DRB1 and DQA1 alleles. High and intermediate resolution of HLA typing was performed by SBT, SSP and rSSOP methodology. The most common alleles were selected if intermediate resolution typing results had ambiguities in DRB1 locus. Results DQB1∗03:19 allele has been detected in 86 out of 1425 individuals, which consists 6% of the population analyzed. Among the DQB1∗03:19 individuals, the most frequent DRB1 alleles were DRB1∗08:04 (42 out of 86, 49%) and DRB1∗11:02 (32 out of 86, 37%). Among the DRB1∗08:04-DQB1∗03:19 individuals, 37 had been DQA1 typed, of which 36 carried a DQA1∗04:01. Among the DRB1∗11:02-DQB1∗03:19 individuals, 29 had been DQA1 typed, of which 28 carried a DQA1∗05:CMM as shown in Table 1. 73 out of 84 individuals with known ethnicity among DQB1∗03:19 population were identified as African American descendants and only 10 and 1 of them were Caucasians and Native American, respectively. No ethnicity was reported in 2 individuals (Table 2). Conclusion Based on our observations, we can demonstrate the presence of the following two most likely haplotypes DRB1∗08:04-DQB1∗03:19-DQA1∗04:01 and DRB1∗11:02-DQB1∗03:19-DQA1∗05:CMM. Both of these two most likely haplotypes were mainly observed among African Americans in North Carolina.

Recent studies have detected basal ganglia atrophy in clinically asymptomatic persons with the genetic mutation that causes Huntington's disease (HD). Whether reductions in caudate and putamen volume on MRI scans are associated with changes in cognitive and neurologic functioning was examined in 13 healthy adults with the IT-15 mutation. Reduced striatal volume was found to correlate with greater neurologic (largely motor) impairment, slower mental processing speed, and poorer verbal learning, although none of the participants met even liberal criteria for clinical diagnosis of HD. These correlations are strikingly similar to those observed in symptomatic HD patients, possibly reflecting the earliest manifestations of disease. ( JINS , 1998, 4 , 467–473.)

Aim Genomic alterations and somatic mutations have been widely identified in hematologic malignancies. Recent studies have described mutations in different HLA genes of these patients. These mutations are identified when high resolution typing is needed for patients and potential donors. An African American patient treated for myeloma, received an autologous stem cell transplant in 2010. During 2011 he was diagnosed with a secondary plasma cell leukemia, becoming a candidate for an allogeneic stem cell transplant. Methods HR HLA typing was performed by Sequence Based Typing (SBT) methodology and a single base mismatch on one of his HLA-DQB1 allele was identified in exon 2, codon 13, leading to an amino acid substitution (Glycine to Valine). Three siblings, considered potential donors, had HLA typing performed and the same HLA-DQB1 ∗ 06:XX was identified in two of them. To investigate the HLA-DQB1 novel allele segregation and its origin within the family, their mother was typed. Results One of the HLA-DQB1 alleles identified did not match with DQB1 alleles from HLA database 3.6.0, used for the SBT data analysis. Their mother HLA typing identified HLA-DQB1∗06:02:01 and DQB1 ∗ 06:XX. The alleles DQB1 ∗ 06:XX and DQB1 ∗ 06:02:01 differ by 1 nucleotide mismatch in exon 2, which caused us to question what genetic alterations that may have occurred in her DQB1 genes. Conclusions Our findings demonstrate that the hematological malignancy is not always the cause for HLA genes alterations, which reinforces the value of family studies to explain gene segregation. Beyond the implications of obtaining an accurate HLA typing and donor selection, these genetic alterations on HLA genes may allow some mechanisms of immune surveillance to fail when associated with other complications caused by hematological malignancies affecting bone marrow transplant candidates. The allele in question was also identified by another HLA laboratory, and is included in the most recent IMGT HLA alleles update, it was named HLA-DQB1 ∗ 06:49.