Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves.
point in the gut microbiome and was not detected at baseline and at T+30. At the genus level, in oral wash samples, Haemophilus parainfluenzae abundance significantly decreased between T-2 and T+7 (P = .01) and subsequently increased at T+30 (P = .005). In the gut microbiome, Desulfovibrio D168 species significantly decreased from baseline to T+7 (P = .03). Conclusion and Future Directions: Microbial composition and bacterial diversity is altered significantly during HCT, with the lowest diversity noted during marrow aplasia. This change is likely multifactorial owing to the conditioning regimen, antimicrobial exposure and immune dysregulation. We hypothesize that this state of microbiota dysbiosis could contribute to the development of unwanted toxicities during HCT including: infections, oral mucositis and gastrointestinal toxicities (nausea, vomiting and diarrhea) due to bacterial domination by a pathogen. The next objective(s) is to correlate these microbiome changes to clinical endpoints including engraftment rates and toxicities. Further analysis is also underway to explore the fungal component of the microbiome in the same cohort.
Although autologous stem cell transplantation (ASCT) remains an important therapy for multiple myeloma (MM), duration of remission is highly variable with few clinically available predictors of progression. Since MM is characterized by immune defects, which may promote disease progression, we analyzed the impact of clinically available immune-related markers on outcomes after ASCT and aimed to formulate an immune score predicting progression free survival (PFS). One hundred and thirty patients who received melphalan 200 mg/m 2 were included in the analysis. Sixteen (12%) patients had high risk FISH/karyotype. The median number of prior treatments was 2 (range: 1-5), the majority of which were IMiD-(n = 82, 63%) or PI-(n = 72, 55%) based. The median time to transplant was 8 months (range: 3-144), and approximately half of patients received post-ASCT maintenance treatment (n = 60, 46%). We collected the following values at baseline (day-2) and at day +90 post-ASCT: absolute lymphocyte count (ALC); absolute monocyte count (AMC); lymphocyte to monocyte ratio (LMR); and the number of immunoglobulin (Ig) levels suppressed. Values were separated into upper and lower quartiles for analysis. A low ALC, AMC, and LMR were defined as less than 1100 cells/μL, 300 cells/μL, and 2.4 respectively. A high ALC, AMC, and LMR were defined as more than 2400 cells/ μL, 500 cells/μL, and 5.7 respectively. For the entire cohort, the median PFS was 25 months. Baseline ALC, AMC, LMR, or Ig levels did not predict PFS. However, at day +90, we found that a low ALC (18 versus 23 months, P = .04) or high AMC (13 versus 25 months, P = .02) predicted for worse PFS. When combined as the LMR, a low ratio strongly predicted for worse PFS when compared to a high ratio (16 versus 52 months, P = .004). Finally, patients with 2 or 3 suppressed Ig levels were found to have significantly worse PFS than those with normal Iglevels (17 versus 51 months, P = .04). When LMR and Ig levels were combined, we divided patients into poor risk (low LMR and 2-3 suppressed Ig), good risk (high LMR and 0-1 suppressed Ig) and intermediate risk (all other patients) groups. Median PFS for poor, intermediate and high risk groups was 7.5 versus 27 versus 79 months respectively (see figure, P = .0004). In a multivariate analysis adjusted for protein subtype, ISS stage, number of prior treatments, novel agent-based induction, and use of maintenance treatment, high LMR (95% CI .01-0.15, HR .01; P = .001) and suppressed Ig levels (95% CI 1.45-39.71, HR 7.58; P = .017) were strong independent predictors of PFS. Here we propose an immune score combining readily available immune-related laboratory tests to stratify patients at risk for early progression who may benefit from intensified post-ASCT treatment. Future investigation will focus on validating this score in an independent cohort of patients and identifying the important cell subsets upon which to focus clinical interventions.
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