Late-Onset Antibody Deficiency Due to Monoallelic Alterations in .

Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody deficiency and identified five disease-associated variants in in five unrelated families. We detected two single base pair deletions and two single base pair insertions, causing severe protein truncations, and one missense mutation.

A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.

Genetic studies have led to identification of an increasing number of monogenic primary immunodeficiency disorders. Monoallelic pathogenic gain-of-function (GOF) variants in NFKBIA, the gene encoding IκBα, result in an immunodeficiency disorder, typically accompanied by anhidrotic ectodermal dysplasia (EDA). So far, 14 patients with immunodeficiency due to NFKBIA GOF mutations have been reported.

Association of angiotensin II type 1 receptor antibodies with graft histology, function and survival in paediatric renal transplant recipients.

Background: We analysed in a carefully phenotyped cohort of paediatric patients the association of serum angiotensin II type 1 receptor antibodies (AT1R-Ab) with specific histological lesions and with graft function and survival in conjunction with overall and complement-binding donor-specific human leucocyte antigen donor-specific antibodies (HLA-DSA).

Methods: Sera of 62 patients at the time of renal graft biopsy for clinical indication >1 year post-transplant were assessed for AT1R-Ab by enzyme-linked immunosorbent assay (ELISA) and for DSA and C1q-fixing DSA by single-antigen bead technology.

Results: Serum AT1R-Ab concentration was significantly higher in antibody-mediated rejection (ABMR) than in T-cell-mediated rejection or control.

Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

Here we describe novel mutations in recombination activation gene 1 (RAG1) in a compound heterozygous male patient with combined T and B cell immunodeficiency (CID). Clinical manifestations besides antibody deficiency included airway infections, granulomatosis and autoimmune features. He died at the age of 37 due to PML caused by JC virus infection.

The Brazilian strategy for monitoring persistent organic pollutants in food obtained from animals.

The implementation of quality control procedures in analytical laboratories around the world has become essential in order to ensure the quality and safety of food. This article describes the procedure adopted by the Brazilian government in order to achieve this goal, specifically in the area of analysis of organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCBs). The validation of a multiresidue method, the calculation of measurement uncertainty, and the quality control procedure adopted in the determination of these compounds in beef cattle fat were performed as set out in national legislation (Brasil, 2011), which is aligned with international guidelines.

Straight Vessel Pattern and Rapid Filling Time: Characteristic Findings on Contrast-Enhanced Sonography of Testicular Lymphoma.

Six patients with 7 lesions that were histologically confirmed as primary testicular lymphoma were preoperatively investigated with a standardized sonographic protocol including contrast-enhanced sonography. Duplex and contrast-enhanced sonography showed marked hypervascularization in all 7 lesions. On contrast-enhanced sonography, the filling time of lymphomatous lesions was significantly shorter than the filling time of a size-matched sample of 10 patients with seminomas (P < .

Real-Time Elastography and Contrast-Enhanced Ultrasonography in the Evaluation of Testicular Masses: A Comparative Prospective Study.

This study investigates the usefulness of contrast-enhanced ultrasound (CEUS) and real-time elastography (RTE) for the characterization of testicular masses by comparing pre-operative ultrasound findings with post-operative histology. Sixty-seven patients with 68 sonographically detected testicular masses underwent B-mode, color-coded Doppler sonography (CCDS), CEUS and RTE according to defined criteria. For RTE, elasticity score (ES), difference of elasticity score (D-ES), strain ratio (SR) and size quotient (Qsize) were evaluated.

Cost for physician-diagnosed influenza and influenza-like illnesses on primary care level in Germany--results of a database analysis from May 2010 to April 2012.

Background: Seasonal influenza is one of the most significant infectious diseases in Germany; epidemic outbreaks occur every winter and cause substantial morbidity and mortality. However, published data from Germany on the current economic burden of influenza and the costs per episode are lacking.

Methods: A retrospective database analysis was conducted using a longitudinal electronic medical records database (IMS Disease Analyzer).

The determinants of intention to smoke waterpipe among adolescents in Lebanon: a national household survey.

Background: The phenomenon of waterpipe smoking (WPS) among adolescents has become eminent, and it is especially prevalent in Lebanon. Unlike cigarette smoking, WPS is parentally and socially acceptable. This study aims at examining the association between intention to smoke waterpipe in the next 6 months, and knowledge, attitudes and parental and social influences.

Diaminoterephthalate turn-on fluorescence probes for thiols--tagging of recoverin and tracking of its conformational change.

Diaminoterephthalates with a maleimide moiety were synthesized and used as fluorescence dyes for sensing thiols. Whereas these "NiWa Blue" dyes showed no emission, the conjugate addition of a thiol to the maleimide group turned on a fluorescence at about 400 nm when irradiating the dye at 338 nm. The neuronal-calcium sensor protein recoverin possesses a single cysteine residue at position 39, which reacts with NiWa Blue, and is therefore labeled by a fluorophore with an emission at about 440 nm.

Occupational airborne contact allergy to tetrazepam in a geriatric nurse.

A 52-year-old geriatric nurse presented with recurrent eczema localized in uncovered skin areas. Patch testing produced an eczematous skin reaction with type IV sensitization totetrazepam. A relapse of contact dermatitis was successfully prevented by using occupational skin protection measures and organizational measures.

Glove-derived foreign proteins induce allergen-specific IgE in a mouse model.

Currently, most medical gloves are produced with a low content of natural rubber latex (NRL) protein. However, they may be substituted by proteins of foreign origin to maintain specific properties of the material. The aim of this study was to investigate the allergenicity and immunogenicity of unexpected proteins (i.

Time-resolved pH/pO2 mapping with luminescent hybrid sensors.

A method for simultaneous and referenced 2D mapping of pH and pO2 is described. The experimental setup combines a fast gateable CCD camera as detector, a LED as excitation light source and a single-layer sensor membrane as optical transducer. The planar optode comprises a lipophilic fluorescein derivative (lifetime approximately 5 ns) and platinum(II) mesotetrakis(pentafluorophenyl)porphyrin (approximately 70 micros in the absence of a quencher) immobilized in a hydrogel matrix.

pH fluorosensors for use in marine systems.

In this work we present optical pH sensors especially designed for pH measurements in marine environment. Embedded in an uncharged, highly proton-permeable hydrogel matrix, the two novel lipophilic carboxyfluorescein derivatives 2',7'-dihexyl-5(6)-N-octadecyl-carboxamidofluorescein (DHFA) and 2',7'-dihexyl-5(6)-N-octadecyl-carboxamidofluorescein ethyl ester (DHFAE) have apparent dissociation constants of ca. 8.

Degradation of RXRs influences sensitivity of rat osteosarcoma cells to the antiproliferative effects of calcitriol.

Several cell lines, including ROS17/2.8 rat osteosarcoma (ROS) cells, contain functional VDRs and RXRs but are resistant to the antiproliferative effects of calcitriol and retinoids. We explored the role of receptor degradation in this hormone resistance.

Tributyrin-induced differentiation promotes apoptosis of LS 174T colon cancer cells in vitro.

Tributyrin (glyceryl tributyrate, TB) is known to induce malignant cells to differentiate followed by arrest of cell growth and death via apoptosis. We investigated the effects of TB on the distribution of cell cycle phases, differentiation as measured by alkaline phosphatase activity (ALP), and apoptosis of LS 174T colon cancer cells expressed by morphological changes, externalization of phosphatidylserine and stimulation of various caspases. TB (0.