Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.

There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study reports the frequency of rheumatologic conditions in a large cohort of patients with IEI using the USIDNET (United States Immunodeficiency Network) registry. We used the USIDNET registry to conduct the analysis. We included all IEI patients within the registry for whom a diagnosed rheumatologic disease was reported. The total number of patients with IEI in our query was 5058. Among those, 278 (5.49%) patients had a diagnosis of rheumatologic disease. This cohort included 172 (61.8%) female and 106 (38.2%) male patients. Rheumatologic complications were highest in the interferonopathies (66.6%), autoimmune lymphoproliferative syndrome (ALPS) (13.7%), and immunoglobulin G subclass deficiency (IgGSD) (11.11%). Additionally, disease patterns were noted to be different in various IEI disease groups. Inflammatory myopathies were the most common rheumatologic condition in patients with X-linked agammaglobulinemia (1.65%), Sjogren's syndrome was the most common rheumatologic disease reported in ALPS patients (6.85%), and systemic lupus erythematosus was the most common rheumatologic disease in patients with chronic mucocutaneous candidiasis (CMC) (7.41%). Rheumatoid arthritis (RA) report rate was highest in patients with IgGSD (3.70%), specific antibody deficiency (SAD) (3.66%), and ALPS (2.74%). This study reports that rheumatologic diseases are frequently observed in patients with IEI. The frequency of different rheumatologic conditions was variable based on the underlying diagnosis. Clinicians caring for patients with IEI should be vigilant to monitor for rheumatologic complications. Key Points • The rates of reported rheumatologic diseases in the USIDNET registry are different in individual IEIs. • Further studies are needed to guide clinicians for detecting rheumatologic conditions earlier in patients with IEI.

The 40Ar(d,p)41Ar cross section between 3-7 MeV.

To determine the safety of using argon as a deuteron beam stopping material, the  40Ar(d,p)41Ar cross section was measured at average deuteron energies of 3.6 MeV, 5.5 MeV, and 7.0 MeV using an activation method. A 16-MeV deuteron beam produced by Lawrence Berkeley National Laboratory's 88-Inch Cyclotron was degraded to each energy by nickel foils and the front wall of an aluminum gas chamber. The reduced-energy deuterons were used to activate a sample of natAr gas. After each irradiation, the gas chamber's  41Ar activation was measured with a high-purity germanium detector. The cross sections measured were larger than a previous measurement by ∼40%.

Precision measurement of relative γ-ray intensities from the decay of 61Cu.

A discrepancy, well outside reported uncertainties, has been observed between the accepted and measured values of the intensity ratio of the two strongest γ rays following 61Cu ß+ decay. This discrepancy has significant impact since the natNi(d,x)61Cu reaction has historically been one of only a few IAEA recommendations for use as a deuteron flux monitor and a considerable number of published cross sections measured in ratio to that beam monitor cross section may depend on the choice of either the first or second strongest γ ray in those calculations. To determine the magnitude of this error most precisely, over a hundred separate measurements of the 283 keV to 656 keV γ-ray emission ratio were collected from seven experiments and a variety of detectors and detection geometries. A weighted average of all these measurements indicates an error in the value listed in the Nuclear Data Sheets of 11% in either the primary or second-highest intensity γ ray of 61Cu, potentially introducing an 11% error in 61Cu production cross section measurements, cross sections using nickel activation as a deuteron beam current monitor, or in dose rates when 61Cu is used in nuclear medicine. General agreement with the Data Sheets with ten other intensity ratios suggests the most probable error is in the secondary (656 keV) emission, which accordingly should be updated from 10.8% to 9.69%.

Monte Carlo modeling of geminate recombination in polymer-polymer photovoltaic devices.

A Monte Carlo model is used to examine geminate pair dissociation in polymer-polymer photovoltaic devices. It is found that increasing one or both carrier mobilities aids geminate separation yield eta(GS) particularly at low fields. This, in turn, leads to improved maximum power output from polymer-polymer blend photovoltaics, even when carrier mobilities are unbalanced by a factor of 10. The dynamic behaviors of geminate charges that eventually separate and recombine are examined for the first time. It is shown that geminate pairs in a bilayer become effectively free when separated by approximately 4 nm, which is far smaller than the thermal capture radius of 16 nm here. This may lead one to expect that eta(GS) would not be limited by the separation allowed by the morphology once the domain size has increased above 4 nm. In fact it is found that eta(GS) in a blend improves continuously as the average domain size increases from 4 to 16 nm. We show that although a small degree of separation may be available in a blend, the limited number of possible routes to further separation makes charge pairs in blends more susceptible to recombination than charge pairs in a bilayer.

Fatal fat embolism after vertebroplasty: identification of the high-risk patient.

We report a rare complication of autopsy-proven fat and bone marrow embolization following percutaneous vertebroplasty in a patient who had no evidence of cement leakage. Cement injection was done during one patient encounter, covering 3 vertebral levels by using a unipedicular approach. Patients may have complications even without polymethylmethacrylate leakage.

High-resolution microscopy of lung and intrathoracic tumors.

Effective chemotherapy is available for many types of lung tumors; however, to select the most appropriate regimen, precise classification is essential. The most important differentiation is that between small cell and non-small cell anaplastic carcinoma. It is also important to distinguish mediastinal neoplasms and neoplasms metastatic to lung from primary lung tumors. Processing tissue in methacrylate and epoxy resins results in excellent preservation of histologic detail and allows for maximum resolution under the light microscope. In addition, histochemical and immunochemical procedures can be carried out in these preparations, allowing the pathologist to more precisely classify the various tumors.

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

HLA-identical sibling donor transplantation remains the treatment of choice for Wiskott-Aldrich Syndrome (WAS). Since 1990, utilization of alternative donor sources has increased significantly. We report the hematopoietic cell transplantation (HCT) outcomes of 47 patients with WAS treated at a single center since 1990. Improved outcomes were observed after 2000 despite the increased number of alternative donors. Five-year OS improved from 62.5% (95% CI: 34.9% to 81.1%) to 90.8% (95% CI: 67.7% to 97.6%) for patients transplanted during 1990-2000 and 2001-2009, respectively. In multivariate analysis, transplant era significantly impacted OS (P=0.04), whereas age was only marginally significant (P=0.06, Cox proportional hazard analysis). No TRM occurred within the first 100 days among patients transplanted during 2001-2009 compared with 3/16 during 1990-2000, (P=0.03, Fisher's exact test). The extent of HLA mismatch did not significantly affect the incidence of acute GVHD, chronic GVHD or survival. Post-HCT autoimmune cytopenias were frequently diagnosed after 2001: 17/31 (55%) patients. Their occurrence was not associated with transplant donor type (P=0.53), acute GVHD (P=0.74), chronic GVHD (P=0.12), or post-transplant mixed chimerism (P=0.50).

A unified description of current-voltage characteristics in organic and hybrid photovoltaics under low light intensity.

We develop a simple model that can explain the current-voltage ( J- V) curves of excitonic photovoltaic solar cells, spanning polymer:polymer, polymer:fullerene, and polymer:nanocrystal devices. We show that by subtracting out the dark current, we can explain apparent intensity-dependent characteristics and thus identify geminate recombination as the dominant loss mechanism and establish its electric field dependence. We present an analytic fit to the J- V curves of all measured devices based on a single fitted parameter, the electric field required to split 50% of geminate charge pairs, which we term the critical field. Devices of different material combinations and morphologies can all be described by this method and yield critical fields varying between >1 x 10(8) V/m for blends of poly(9,9'-dioctylfluorene- co-bis- N, N'-(4-butylphenyl)-bis- N, N'-phenyl-1,4-phenylenediamine) (PFB) and poly(9,9'-dioctylfluorene- co-benzothiadiazole) (F8BT) and 8 x 10 (5) V/m for slow-grown blends of poly(3-hexylthiophene-2,5-diyl) (P3HT) and [6,6]-phenyl-C61-butyric acid methyl ester (PCBM). A comparison with material properties reveals that the primary route to improved photovoltaic materials is enhanced charge delocalization.

Ultrastructural and Immunological methods in diagnostic pathology in a community hospital.

Five unusual tumors and one case of glomerulonephritis were examined by light microscopy, immunochemical methods, and electron microscopy in order to arrive at a correct diagnosis. We propose that these techniques can be used in community hospitals for selected cases in order to classify certain types of tumors, identify the primary site of some metastatic tumors, and help in the precise classification of some autoimmune diseases.

Cell population analysis of a heterogeneous blast cell crisis of chronic myelogenous leukemia.

A case of Philadelphia negative chronic myelogenous leukemia (CML) is described with the following features: 1) initial lymphoid blast crisis; followed by 2) a heterogeneous blast crisis including myeloid, monocytic, and lymphoid elements that could be distinguished by morphological, cytochemical, ultrastructural methods and by immunologic markers; and 3) clonal evolution as shown by methylcellulose cultures and ultrastructural studies with emergence of a relatively drug resistant subclone of leukemic cells. Determination of surface antigen phenotype in CML blast crisis thus provides clinically useful information for the structuring of treatment protocols. This study also confirms previous studies that lymphoid blast crisis of CML can occur in Ph'-cases and that the Philadelphia chromosome is probably a clonal marker only and its presence is not directly related to the subsequent clinical course of the disease.