No abstract

To weigh the pros and cons of familial-mismatched/haploidentical transplantation (FMT) in patients with high-risk acute myelogenous leukemia, we assessed outcomes of 23 patients who underwent FMT, using reduced-intensity conditioning with total body irradiation 800 cGy/busulfan/fludarabine/antithymocyte globulin without ex vivo T cell depletion, compared to 33 patients who underwent well-matched unrelated donor transplantation (WM-UDT) and 13 who underwent partially matched unrelated donor transplantation (PM-UDT) during the same period. The FMT patients had not only a similar pattern of engraftment and immune reconstitution as the WM-UDT and PM-UDT patients but also comparable incidences and severity of acute and chronic graft-versus-host disease. The FMT patients did not experience any form of engraftment failure. However, the cumulative incidence of cytomegalovirus DNAemia was significantly higher in the FMT group compared with the other groups (P = .036). After a median follow-up of 28 months, overall survival, disease-free survival, relapse, and nonrelapse mortality were 83%, 74%, 20%, and 7%, respectively, for WM-UDT; 51%, 51%, 31%, and 18% for PM-UDT; and 66%, 64%, 26%, and 10% for FMT. This demonstrates a trend for favorable survival outcomes of WM-UDT over FMT and of FMT over PM-UDT. However, we found no significant statistical differences in survival according to donor type. These data need to be interpreted cautiously because of limited power calculations due to the small number of each donor group. This pilot study suggests the feasibility of FMT using our novel regimen with careful evaluation of CMV DNAemia compared with WM-UDT and PM-UDT. Further trials with larger numbers of patients, comparing FMT directly with transplantation with other donor types, are needed.

Deep gluteal syndrome is an increasingly recognized disease entity, caused by compression of the sciatic or pudendal nerve due to non-discogenic pelvic lesions. It includes the piriformis syndrome, the gemelli-obturator internus syndrome, the ischiofemoral impingement syndrome, and the proximal hamstring syndrome. The concept of the deep gluteal syndrome extends our understanding of posterior hip pain due to nerve entrapment beyond the traditional model of the piriformis syndrome. Nevertheless, there has been terminological confusion and the deep gluteal syndrome has often been undiagnosed or mistaken for other conditions. Careful history-taking, a physical examination including provocation tests, an electrodiagnostic study, and imaging are necessary for an accurate diagnosis. After excluding spinal lesions, MRI scans of the pelvis are helpful in diagnosing deep gluteal syndrome and identifying pathological conditions entrapping the nerves. It can be conservatively treated with multidisciplinary treatment including rest, the avoidance of provoking activities, medication, injections, and physiotherapy. Endoscopic or open surgical decompression is recommended in patients with persistent or recurrent symptoms after conservative treatment or in those who may have masses compressing the sciatic nerve. Many physicians remain unfamiliar with this syndrome and there is a lack of relevant literature. This comprehensive review aims to provide the latest information about the epidemiology, aetiology, pathology, clinical features, diagnosis, and treatment. Cite this article: Bone Joint J 2020;102-B(5):556–567.

Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying mechanism. This study included 111 patients with bi-allelic SLC26A4 mutations who had bilateral enlarged vestibular aqueduct (EVA) and hearing loss. p.H723R (61%), c.919-2A>G (24%), and p.T410M (4%) were the most common mutations in Korean patients with EVAs. Residual hearing in patients with c.919-2A>G or p.T410M mutations was better than that of patients with p.H723R homozygous mutations. Interestingly, quantitative polymerase chain reaction showed normal pendrin transcript (6-17% of normal levels) was produced from patients with c.919-2A>G homozygous mutations. Surface expression ratio of pendrin and residual anion exchange activity were higher in cells transfected with p.T410M in comparison to cells transfected with p.H723R. These results suggest that there is a correlation between degree of residual hearing and the SLC26A4 genotype commonly found in the East Asian population.