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We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay-Sachs disease research and a particular reading of history, shaped this new approach even as methodological imprecision and new genetic and historical research challenged it. Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy. [ABSTRACT FROM AUTHOR]

Background: Europe is currently the most active region in the field of pancreatic islet transplantation, and many of the leading groups are actually achieving similar good outcomes. Further collaborative advances in the field require the standardization of islet cell product isolation processes, and this work aimed to identify differences in the human pancreatic islet isolation processes within European countries., Methods: A web-based questionnaire about critical steps, including donor selection, pancreas processing, pancreas perfusion and digestion, islet counting and culture, islet quality evaluation, microbiological evaluation, and release criteria of the product, was completed by isolation facilities participating at the Ninth International European Pancreas and Islet Transplant Association (EPITA) Workshop on Islet-Beta Cell Replacement in Milan., Results: Eleven islet isolation facilities completed the questionnaire. The facilities reported 445 and 53 islet isolations per year over the last 3 years from deceased organ donors and pancreatectomized patients, respectively. This activity resulted in 120 and 40 infusions per year in allograft and autograft recipients, respectively. Differences among facilities emerged in donor selection (age, cold ischemia time, intensive care unit length, amylase concentration), pancreas procurement, isolation procedures (brand and concentration of collagenase, additive, maximum acceptable digestion time), quality evaluation, and release criteria for transplantation (glucose-stimulated insulin secretion tests, islet numbers, and purity). Moreover, even when a high concordance about the relevance of one parameter was evident, thresholds for the acceptance were different among facilities., Conclusions: The result highlighted the presence of a heterogeneity in the islet cell product process and product release criteria.

In December 2018, Diabetes and Diabetologia began requiring authors of papers reporting data obtained from studies on human islets to report critical characteristics of the human islets used for research. The islet community was asked to provide feedback on it. Here is the contribution by the European Consortium for Islet Transplantation., (© 2019 by the American Diabetes Association.)

Context: Childhood acute otitis media (AOM) is highly prevalent. Its usual sequela of middle ear effusion (MEE) can lead to conductive hearing loss, for which surgery is commonly used., Objective: To evaluate the efficacy of an osteopathic manipulative treatment (OMT) protocol on MEE resolution following an episode of AOM. The authors hypothesized that OMT provided adjunctively to standard care for young children with AOM would reduce the duration of MEE following the onset of AOM., Methods: We compared standard care only (SCO) and standard care plus OMT (SC+OMT) for the duration of MEE following AOM. Patients were aged 6 months to 2 years. The SC+OMT group received OMT during 3 weekly visits. Weekly tympanometric and acoustic reflectometer (AR) readings were obtained from all patients., Results: There were 52 patients enrolled, with 43 completing the study and 9 dropping out. No demographic differences were noted. Only ears from each patient with abnormal tympanograms at entry were included. There were 76 ears in the tympanogram analysis (38 from SCO; 38 from SC+OMT) and 61 ears in the AR data analysis (31 from SCO; 30 from SC+OMT). Dependence of bilateral ear disease noted in AR readings was accounted for in statistical analysis. Tympanogram data demonstrated a statistically significant improvement in MEE at visit 3 in patients in the SC+OMT group (odds ratio, 2.98; 95% confidence interval, 1.16, 7.62; χ(2) test for independence, P=.02). The AR data analysis showed statistically significant improvement at visit 3 for the SC+OMT group (z=2.05; P=.02). There was no statistically significant change in MEE before or immediately after the OMT protocol., Conclusion: A standardized OMT protocol administered adjunctively with standard care for patients with AOM may result in faster resolution of MEE following AOM than standard treatment alone. (ClinicalTrials.gov number NCT00520039.)., (© 2014 The American Osteopathic Association.)

We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay-Sachs disease research and a particular reading of history, shaped this new approach even as methodological imprecision and new genetic and historical research challenged it. Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy.

DNA repair is essential for the maintenance of genomic integrity and stability. Nucleotide excision repair (NER) is a major pathway responsible for remediation of damage caused by UV light, bulky adducts, and cross-linking agents. We now show that NER capacity is differentially expressed in human tissues. We established primary cultures of peripheral blood lymphocytes (PBLs: N = 33) and foreskin fibroblasts (FF: N = 6), as well as adult breast tissue (N = 22) using a unique culture system, and measured their NER capacity using the unscheduled DNA synthesis (UDS) functional assay. Relative to FF, primary cultures of breast cells exhibited only 24.6 +/- 2.1% of NER capacity and PBLs only 8.9 +/- 1.2%. Cells from the breast therefore have a unique and distinctive DNA repair capacity. The NER capacities of all three cell types had similar coefficients of variation in the range of 10%-15%, which should be taken into account when running controls for this contextual assay. Unlike previous studies and speculation in the field, we found that NER was not affected by cell morphology, donor age, or proliferation as measured by the S phase index. While the NER capacity of the transformed lymphoblastoid cell line TK6 was within the range of our PBL samples, the breast tumor-derived MDA MB-231 cell line was four-fold higher than normal breast tissue. These studies show that analysis of baseline DNA repair in normal human cell types is critical as a basis for evaluation of the effects of "mutator" genes as etiological factors in the development of cancer.