Study Design Retrospective cohort study. Objectives Odontoid fractures are the most common cervical spine fractures in the elderly. The optimal treatment remains controversial. The aim of this... Show moreStudy Design Retrospective cohort study. Objectives Odontoid fractures are the most common cervical spine fractures in the elderly. The optimal treatment remains controversial. The aim of this study was to compare results of a low-threshold-for-surgery strategy (surgery for dislocated fractures in relatively healthy patients) to a primarily-conservative strategy (for all patients). Methods Patient records from 5 medical centers were reviewed for patients who met the selection criteria (e.g. age & GE;55 years, type II/III odontoid fractures). Demographics, fracture types/characteristics, fracture union/stability, clinical outcome and mortality were compared. The influence of age on outcome was studied (& GE;55-80 vs & GE;80 years). Results A total of 173 patients were included: 120 treated with low-threshold-for-surgery (of which 22 primarily operated, and 23 secondarily) vs 53 treated primarily-conservative. No differences in demographics and fracture characteristics between the groups were identified. Fracture union (53% vs 43%) and fracture stability (90% vs 85%) at last follow-up did not differ between groups. The majority of patients (56%) achieved clinical improvement compared to baseline. Analysis of differences in clinical outcome between groups was infeasible due to data limitations. In both strategies, patients & GE;80 years achieved worse union (64% vs 30%), worse stability (97% vs 77%), and - as to be expected - increased mortality <104 weeks (2% vs 22%). Conclusions Union and stability rates did not differ between the treatment strategies. Advanced age (& GE;80 years) negatively influenced both radiological outcome and mortality. No cases of secondary neurological deficits were identified, suggesting that concerns for the consequences of under-treatment may be unjustified. Show less
Background: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease caused by XIAP gene mutations. A broad range of phenotype, severity, and age at onset... Show moreBackground: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease caused by XIAP gene mutations. A broad range of phenotype, severity, and age at onset present challenges for patient management. Objective: We sought to characterize the phenotype, treatment, and survival outcomes of XIAP deficiency and to assess parameters influencing prognosis. Methods: Data published from 2006 to 2020 were retrospectively analyzed. Results: A total of 167 patients from 117 families with XIAP deficiency were reported with 90 different mutations. A wide spectrum of clinical features were seen, of which hemophagocytic lymphohistiocytosis (HLH) and inflammatory bowel disease were the most common. Patients frequently developed multiple features with no clear genotype-phenotype correlation. A total of 117 patients were managed conservatively and 50 underwent hematopoietic stem-cell transplantation (HSCT), with respective overall survival probabilities of 90% and 53% at age 16 years. The predominant indication for HSCT was early-onset HLH. Active HLH and myeloablative conditioning regimens increased HSCT-related mortality, although HSCT outcome was much better after 2015 than before. For conservatively managed patients reaching adulthood, survival probabilities were 86% at age 30 years and 37% by age 52 years, with worse outcomes for patients developing the disease before the age of 5 years or with new disease features in adulthood. Nine asymptomatic mutation carriers with a median age of 13.5 years were identified. Conclusions: Our study demonstrates the variable nature of XIAP deficiency, which evolves over life for individual patients. Better therapeutic strategies and prospective studies are required to reduce morbidity and mortality and improve decision making and long-term outcomes for patients with XIAP deficiency. (J Allergy Clin Immunol 2022;150:456-66.) Show less
Kleijwegt, M.; Bettink, F.; Malessy, M.; Putter, H.; Mey, A. van der 2020
Objective This study was aimed to determine the role of clinical presentation and tumor characteristics in vestibular schwannoma (VS) at diagnosis, initially treated with conservative management... Show moreObjective This study was aimed to determine the role of clinical presentation and tumor characteristics in vestibular schwannoma (VS) at diagnosis, initially treated with conservative management.Design The study was designed as a retrospective chart review.Setting The study was prepared at national tertiary referral center for VS patients.Participants A total of 836 VS patients, initially treated conservatively, were included.Main Outcome Measures Patient characteristics: age at diagnosis, gender, frequency, and duration of, hearing loss, tinnitus, balance disorder (unsteadiness, dizziness, and vertigo), respectively; and tumor characteristics: laterality, growth, cystic component, and location were analyzed in relation to tumor size at diagnosis and change in treatment strategy.Results In total, 169 (20%) patients had a change in treatment strategy. Factors at diagnosis that had a high influence on intervention were a short duration of hearing loss (hazard ratio [HR]: 4.8, p <0.001) and cystic tumors (HR=2.6, p <0.001). Balance disorders and extracanalicular (EC) tumor location have a medium influence on intervention (HR=1.6, p <0.01). Tumour growth was seen in 55% of the intervention group; we found a significant correlation with a short duration of hearing loss. Cystic VS was significantly higher between the medium and large tumors, 24.3% and 38.1%. ( p =0.001), respectively.Conclusions Patients with a short duration of hearing loss, balance disorders, EC located tumors, and cystic tumors have a significantly higher chance of a change in treatment strategy. Large tumor size at diagnosis and a cystic component were related to age>65 years at diagnosis. Show less
Barzouhi, A. el; Vleggeert-Lankamp, C.L.A.M.; Nijeholt, G.J.L.A.; Kallen, B.F. van der; Hout, W.B. van den; Koes, B.W.; ... ; Leiden-The Hague Spine Interventio 2013
