Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.

DEK has a short isoform (DEK isoform-2; DEK2) that lacks amino acid residues between 49-82. The full-length DEK (DEK isoform-1; DEK1) is ubiquitously expressed and plays a role in different cellular processes but whether DEK2 is involved in these processes remains elusive. We stably overexpressed DEK2 in human bone marrow stromal cell line HS-27A, in which endogenous DEKs were intact or suppressed via short hairpin RNA (sh-RNA).

Computational discovery of novel inhibitory candidates targeting versatile transcriptional repressor MBD2.

Genome methylation is a key epigenetic mechanism in various biological events such as development, cellular differentiation, cancer progression, aging, and iPSC reprogramming. Crosstalk between DNA methylation and gene expression is mediated by MBD2, known as the reader of DNA methylation and suggested as a drug target. Despite its magnitude of significance, a scarcely limited number of small molecules to be used as inhibitors have been detected so far.

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Background/aim: Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in these systems are associated with macrothrombocytopenia.

Materials And Methods: In this study, we sequenced the exons of the TUBB1 gene using DNA isolated from the peripheral blood samples of healthy controls (n = 47) and patients with macrothrombocytopenia (n = 37) from Turkey.

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12- and IL-23-dependent IFN-γ immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 individuals. We show that homozygosity for the common P1104A allele, which is found in about 1/600 Europeans and between 1/1000 and 1/10,000 individuals in regions other than East Asia, is more frequent in a cohort of patients with tuberculosis from endemic areas than in ethnicity-adjusted controls ( = 8.37 × 10; odds ratio, 89.

DEK protein level is a biomarker of CD138positive normal and malignant plasma cells.

Overexpression of DEK oncogene is associated with increased proliferation of carcinoma cells and it is observed in several solid tumors due to the amplification of the 6p22.3 chromosomal region where DEK locates. Although the same chromosomal amplification occurs in multiple myeloma (MM), a plasma cell neoplasm, whether the expression and the copy number of the DEK gene are affected in MM remains elusive.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency.

Safety of subcutaneous immunotherapy with inhalant allergen extracts: a single-center 30-year experience from Turkey.

Context: Although subcutaneous allergen immunotherapy (SCIT) is effective in allergic rhinitis (AR) and asthma, it carries a risk of local and systemic adverse reactions.

Objective: The aim of this study was to evaluate the rates and clinical characteristics of local and systemic reactions (LR and SR), and to identify their relation of demographic features, allergen extracts and diagnosis.

Materials And Methods: This study analyzed the administration of SCIT from 1983 to 2013; involving 1816 patients affected by allergic asthma and/or AR.

CD3G gene defects in familial autoimmune thyroiditis.

The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C).

Plasmapheresis in a patient with "refractory" urticarial vasculitis.

Immune complexes are found in the circulation of 30%-75% of patients with urticarial vasculitis and much evidence supports the role of these immune complexes in the pathogenesis of urticarial vasculitis. Plasmapheresis is effective for removing these immune complexes; however, there are few reports on the use of plasmapheresis in the treatment of urticarial vasculitis. We describe a case of "refractory" urticarial vasculitis in which the symptoms improved after plasmapheresis treatment.

A case of textile dermatitis due to disperse blue on the surgical wound.

Disperse blue (DB) 106 and DB 124 are the most frequent fabric dye allergens inducing textile dermatitis, but contact allergy to them may easily undiagnosed because the clinical picture usually needs high index of suspicion. We present the case of a 35-year-old woman who was referred for a recurred lesion over the incision scar of right total hip replacement surgery, which did not respond to treatment with povidone-iodine, mupirocin, and rifampicin. Patch testing, conducted with a European standard series and therapeutics that were used in the treatment of the lesion, revealed a positive reaction to dispersion mix blue 106/124.

Risk factors for oral allergy syndrome in patients with seasonal allergic rhinitis.

Background: Oral allergy syndrome (OAS) is a unique allergic reaction to food, which is caused by cross-reactivity between proteins in fresh fruits or vegetables and pollens. Predisposing factors for OAS are not well known in patients with seasonal allergic rhinitis.

Objective: Identify the probable risk factors for OAS in patients with seasonal allergic rhinitis.

Awareness of allergy patients about herbal remedies: a cross-sectional study of residents of Ankara, Turkey.

Objective: The use of herbs in patients with allergic diseases is a special problem and still controversial. The objective of this questionnaire-based study was to determine the rate of herbal use in allergy clinic outpatients as well as to explore patient knowledge.

Methods: Patients with respiratory and/or skin disease, either atopic or non-atopic were assigned to a prospective questionnaire study conducted in allergy clinic outpatients.

The role of ace gene polymorphism in the development of angioedema secondary to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers.

Background: Angiotensin Converting Enzyme inhibitors (ACEi) may cause angioedema, with an incidence of 0.1 % to 1 %, which may be life-threatening. ACEi induce angioedema by increasing the levels of bradykinin.

Is allergenic similarity predictable in respiratory allergies?

Background: First degree relatives of patients with allergic diseases are at increased risk of having the disorder. However, it is not clear whether two such related patients with allergic diseases are sensitive to the same antigens or not.

Objective: The aim of this study to determine whether or not first degree relatives with respiratory allergies are more likely to be skin test positive to the same allergen extracts as unrelated patients.

Atopy is a risk factor for acute appendicitis? A prospective clinical study.

Purpose: The purpose of the study was to assess the role of atopy on the development of appendicitis. Acute appendicitis is the most common indication for emergent laparotomy especially in the late teens and early 20s. The pathogenesis generally begins with luminal obstruction caused by fecal mass, seeds, stricture, and bacterial, parasitic, or viral infections.

Not all ACE inhibitor related angioedema is always evident: a case which is misdiagnosed as panic attack and speech disorder.

Angiotensin-converting enzyme (ACE) inhibitors are the most common medications responsible for angioedema. Angioedema is a potentially life threatening conditions especially in geriatric age patients that they have take a several medications include ACE inhibitors and non steroidal anti inflammatory drugs. We present a case an ACE inhibitor induced angioedema that confused many clinical events.

Serum leptin levels and lipid profiles in patients with allergic rhinitis and mild asthma.

Background: Despite improved understanding of the pathophysiology of allergic rhinitis and asthma, the effect of serum leptin level is still controversial. Only a few studies have been performed to investigate the serum leptin levels in allergic rhinitis and asthma, and contradictory results have been observed.

Objective: We aimed to investigate the association between leptin, lipid profiles and allergic rhinitis and mild asthma, and to determine whether inhaled and/or intranasal steroids affect the leptin levels.

Hypersensitivity to aeroallergens in patients with recurrent vulvovaginitis of undetermined etiology.

Aim: Recent findings show that the vaginal mucosa can develop an allergic response to environmental allergens and there is a strong association between atopy and some recurrent vulvovaginal infections. In this study, we investigated prospectively the rate of atopy in patients with recurrent vulvovaginitis of undetermined etiology (RVV).

Material And Methods: After being investigated by a gynecologist, 35 patients with RVV who were considered as undetermined etiology formed the study group.

Intranasal fungi and chronic rhinosinusitis: what is the relationship?

Objectives: The aim of this study was to investigate the effects of intranasal fungi on chronic rhinosinusitis (CRS).

Methods: Forty-one patients with CRS were included in the study. The patients were put into 2 groups, with and without intranasal fungi as detected by polymerase chain reaction, and were compared in terms of different laboratory and clinical parameters of CRS.

A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema.

Patients with hereditary angioedema (HAE) need a special concern during pregnancy. Although, the disease has a relatively benign course during pregnancy, maternal mortality has been reported. We present a HAE patient with recurrent attacks during pregnancy, but uncomplicated labor under C1INH concentrate prophylaxis.

Heart rate variability in patients with allergic rhinitis.

Considering the role of autonomic imbalance in the pathogenesis of hypersensitivity reactions, we evaluated the autonomic system through time-domain analysis of heart rate variability (HRV) in patients with allergic rhinitis. Twenty-four patients with allergic rhinitis and 22 healthy subjects (mean age, 41 +/- 8 years and 37 +/- 9 years, respectively) were enrolled in the study. The diagnosis of allergic rhinitis was based on the history, symptoms, and skin prick tests results.

Radiofrequency for the treatment of vasomotor rhinitis.

Objectives: We assessed the efficacy of submucosal application of radiofrequency to the inferior turbinate for the treatment of vasomotor rhinitis.

Patients And Methods: Twenty patients with vasomotor rhinitis (9 males, 11 females; mean age 29.2 years; range 20 to 40 years) were treated with radiofrequency applied to the inferior turbinate.

Atopy in patients with bronchiectasis: more than coincidence.

Bronchiectasis is common in developing countries, but its precise underlying mechanism can be detected in only about 40% of the cases. The studies reporting the frequency of atopy and its relation to radiological findings and lung function in bronchiectasis are limited in number, and the results are controversial. The present study was designed to investigate the relationship between atopy and bronchiectasis by means of high resolution computed tomography (HRCT) and pulmonary function tests.

Not all food additive related reactions originate from commercial foods: chronic urticaria due to home-made canned tomato.

Additives and preservatives in commercial foods have been implicated in the etiology of chronic urticaria, but such foods have not been widely accepted. In some countries, as in ours, people prefer to use home-made foodstuffs to avoid potentially hazardous commercial additives. However, not all home-made foodstuffs are safe, especially regarding allergies.