Evaluation of Classic Wiskott Aldrich Syndrome with Mild Symptoms in Two Cousins: A Case Report

Introduction: Wiskott–Aldrich syndrome (WAS) is characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity. Commonly, classicWAS is presented with severe clinical symptoms. Case Presentation:We report a new phenotype of classic Wiskott–Aldrich syndrome with mild symptoms in two cousins who were 7 years old. They had not severe infections or hemorrhage, in spite of having genetic mutation in WAS gene. The symptoms and infections of the patients responded to treatment with IVIG and antibiotics. Conclusions: This report is presenting a novel clinical phenotype of classicWAS with milder symptoms

Single Coronary Artery with Anomalous Origin of the Right Coronary Artery from the Distal Portion of Left Circumflex Artery: A Very Rare Case

Congenital anomalies of coronary arteries, albeit rare, may be significant contributors to angina pectoris, hemodynamic abnormalities, and sudden cardiac death. A 47-year-old man referred to us with atypical chest pain. Electrocardiography demonstrated no significant ischemic changes, but cardiac troponin I test was positive. The patient underwent coronary angiography, which revealed a single coronary artery from the left Valsalva sinus. In addition, the left anterior descending (LAD) and the left circumflex (LCx) arteries were in normal position with significant stenosis in the mid-portion of the LAD and the distal portion of the LCx. A large branch originated from the distal portion of the LCx and tapered toward the proximal portion as the right coronary artery (RCA). This is a rare coronary anomaly that has no ischemic result. Coronary lesions were the cause of the patient’s angina pectoris. Angioplasty and stenting of the LAD and LCx was done, and medical therapy (Clopidogrel, Aspirin, Atorvastatin, and Metoprolol) was continued. The patient was asymptomatic at 8 months’ follow-up. J Teh Univ Heart Ctr 2013;8(3):161-163 This paper should be cited as: Pourbehi MR, Amini A, Farrokhi S. Single Coronary Artery with Anomalous Origin of the Right Coronary Artery from the Distal Portion of Left Circumflex Artery: A Very Rare Case. J Teh Univ Heart Ctr 2013;8(3):161-163. Keywords: Coronary angiography, Coronary vessel anomalies • Angina pectori

Association Between Allergic Diseases and Food Allergens Based on Skin Prick Test in Bushehr Province

Background: The Frequency of allergic diseases is growing in recent years. Identification of frequency of food allergens in different areas play an important role in diagnosis and treatment of these diseases. The aim of this study was to determine frequency and association of common food allergens in patients with allergic diseases based on Skin Prick Test in Bushehr province. Material and Methods: In this descriptive cross-sectional study, 1100 patients were enrolled with allergic diseases which had a sensitivity to at least one allergen. This test was carried out with 21 common food allergens extract. Results: In all patients, association between the severity of the reaction prick allergy test and severity of allergic diseases with shrimp, cow's Milk and peanuts were (P= 0.01), (P= 0.02) and (P=0.04) respectively. In this study, the frequency of allergic rhinitis, asthma, chronic and acute urticaris and atopic eczema were 54.2%, 23%, 12.4%, 4.1% and 12%, respectively. While the the most common food allergens were peanuts (46.6%), egg yolk (43.1%) and shrimp (42%) respectively. Conclusion: This study indicated that food allergens such as shrimp, cow's Milk and peanuts have a greater role in severity of allergic diseases and this food allergens showed the highest frequency in patients

Relationship between Vitamin D and Childhood Asthma: A Case–Control Study

Objective: Studies determining the relationship between serum vitamin D status and childhood asthma have yielded controversial results. Findings indicated that vitamin D deficiency is associated with asthma and airway hyper responsiveness. The aim of this study was to assess the relationship between serum vitamin D status and childhood asthma. Methods: Data were obtained from 200 asthmatic children (age 3-12 years) and 200 healthy controls. Serum levels of 25(OH) vitamin D, total IgE, calcium, phosphorus, parathormone (PTH) and eosinophil count were measured in both asthmatic children and healthy controls. Also, the mean values of 25(OH) vitamin D were compared with asthma symptom severities. Findings: There was a significant decrease in the concentration of serum 25(OH) vitamin D in the asthmatic patients as compared with the controls (20.34±2.8 vs 25.39±4.1 ng/mL, 95%CI: 1.46-3.86, P=0.01). Out of total asthmatic subjects, 40 (20%) were vitamin D sufficient, 48 (24%) were insufficient, and 112 (56%) were deficient. Total IgE concentration was also significantly higher in asthmatic patients having vitamin D deficiency (132.4±20.1 IU/ml, 95%CI: 1.38-3.75, P=0.03). Comparing asthmatic patients with healthy controls, odds of having vitamin D level less than 20ng/mL was 2.47. Conclusion: Our findings suggest that vitamin D deficiency or insufficiency may be positively related to the prevalence of asthma in children

Validity of immunohistochemistry method in predicting HER-2 gene status and association of clinicopathological variables with it in invasive breast cancer patients

Human epidermal growth factor receptor-2 is an important and prognostic factors and one of the most targeted proteins in breast cancer’s therapy. There is no globally accepted method for determining its status. Here, we aimed to evaluate the immunohistochemistry method validity in predicting HER-2 status by Fluorescence in situ hybridization method and investigate some clinicopathological variables association with HER-2 amplification. A total of 190 HER-2 2+ and 3+ by immunohistochemistry (IHC) invasive breast cancer cases were enrolled in this study. Fluorescence in situ hybridization (FISH) was performed for these cases using FDA criteria and the association between clinicopathological variables and HER-2 status evaluated. Study consisted of 190 invasive breast cancer patients (160 HER-2 2+ and 30 HER-2 3+). HER-2 FISH amplification according to FDA criteria was found 27.5% (44/160 patients) in HER-2 2+ patients and 83.3% (25/30 patients) in HER-2 3+ patients. Tumors with HER-2 amplification were more likely to be ER-negative (51.0% vs 31.2%, p = 0.013) and PR-negative (52.9% vs 27.0%, p < 0.001). This study showed that immunohistochemistry is not a good method for evaluating HER-2 status and decision-making about trastuzumab therapy even with 3+ score patients. However, this result may not be too strong for IHC 3+ cases due to the limited number of these patients in this study. Key words: Invasive breast cancer; human epidermal growth factor receptor-2; immunohistochemistry; fluorescent in situ hybridization; prediction

Renal Artery Stenosis and Its Predictors in Hypertensive Patients Undergoing Coronary Artery Angiography

Background: Renal artery stenosis (RAS) has been increasingly recognized in the recent years, especially in patients with coronary artery disease (CAD). RAS affects the patients with hypertension (HTN), but the exact prevalence is not known. Objectives: This study was performed to determine the prevalence and to identify the predictors of RAS in hypertensive patients undergoing coronary artery angiography. Patients and Methods: In a cross-sectional study from August 2008 to August 2009, 481 patients with HTN and suspected CAD underwent selective coronary and renal angiography for screening and predicting RAS. RAS was defined as a higher than 50% stenosis in the renal artery lumen. Multivariate analysis of factors associated with the presence of RAS were examined using a logistic regression model. Results: The mean ± standard deviation of age was 59.25 ± 10.81 years and 50.3% were men. According to angiographic data, 425 patients (88.4%) had CAD, while 56 (11.6%) had normal coronary arteries. RAS was seen in 94 (22%) patients with CAD. The multivariate logistic regression analysis identified only age (P < 0.001) and the number of significant coronary lesions (P < 0.001) as independent predictors of RAS. Gender, smoking, congestive heart failure, diabetes mellitus (DM), hyperlipidemia (HLP) and body mass index (BMI) were not independent predictors. Conclusions: This study suggests that in the management of patients with RAS, risk factors should most likely be considered as beneficial. In addition, the clinical and angiographic features are helpful in predicting its presence in elderly patients with CAD

Air- and Dust-Borne Fungi in Indoor and Outdoor Home of Allergic Patients in a Dust-Storm-Affected Area

Despite the recent increases in fungi-induced allergic diseases there is no report yet in the region of the Persian Gulf on concentration levels of fungi in relationship with health state. Therefore, our aim was to measure fungi prevalence as well as to evaluate the relationships between air- and dust-borne fungal genera and allergic diseases. A matched case-control study was carried out including 45 allergic cases and 45 age- and gendermatched controls for each individual. Indoor and outdoor dust and indoor air samples were collected from participant homes during May to October 2015. A Quick Take 30 Pump and sterile wet swab were used to determine fungal types and their amounts in the air (CFU/m3) and dust (CFU/100 cm2) samples, respectively. A significant reverse association was found between indoor dust-borne Alternaria and asthma (Odds ratio (OR) = 0.14, 95% CI = 0.02–0.86). Contrarily, increased levels of indoor airborne Aspegillus fumigatus (OR = 2.00, 95% CI = 0.37–10.55) and Alternaria (OR = 3.00, 95% CI = 0.34–25.83) were correlated with asthma development. Also, correlation analysis showed a significant relation between indoor air-borne Penicillium levels and reactivity to skin prick test in asthmatic patients (p = 0.04). Our findings support the notion that fungal exposures can either cause or prevent the development of allergic diseases. Accordingly, appropriate measures should be taken for a better management of fungi-induced allergic disease

TLR9-based immunotherapy for the treatment of allergic diseases

Toll-like receptors (TLRs), a family of pattern recognition receptors expressed on many cell types of innate immunity, recognize the pathogen-associated molecular patterns of microbes. The hygiene hypothesis suggests that a reduced microbial exposure in early childhood increases the susceptibility to allergic diseases due to deviation in development of the immune system. TLRs are key roles in the right and healthy direction of adaptive immunity with the induction of T-helper 2 toward Th1 immune responses and regulatory T cells. TLR ligand CpG-ODN-based immunomodulation is independent of allergen and it mainly affects innate immune system. While, CpG-oligodeoxynucleotide-based vaccination is allergen specific and induces adaptive immune system. The use of agonists of TLR9 in two distinct strategies of immunotherapy, immunomodulation and vaccination, could be presented as the curative method for the treatment of allergic diseases. First draft submitted: 29 August 2016; Accepted for publication: 8 February 2017; Published online: 17 March 2017 Keywords:  allergic diseases • immunotherapy • TLR9 • Toll-like receptor

Clinical Manifestations of β-Thalassemia Major in Two Different Altitudes; Bushehr and Shahrekord

Background: Patients with β-thalassemia major (TM) develop iron overload through increased iron absorption and transfusional therapy and it’s the most important complication of TM. Thalassemia is common in coastal regions and lands with low altitudes. The aim of this study is to determine the effect of high and low altitude on serum ferritin and treatment requirement in two groups of β-thalassemia major (TM) patients. Subjects and Methods: Patients were divided into two groups, the first group (No: 50) living at sea level (in the port of Bushehr, Iran) and the second group (No: 40) living at the altitude of 2061 m (in the city of Shahrekord, Iran). All patient’s clinical history, blood transfusion and laboratory tests including complete blood count and hemoglobin electrophoresis were reviewed. Results: There were no significant difference in ferritin levels, transfusion period and diabetes incidence of the two cities patients (P>0.05). Patient’s cardiac function and liver condition were significantly better in patients of Bushehr (P<0.05). Patients under 20 years in Bushehr were less splenectomized in comparison with Shahrekord (P<0.05). Conclusion: Our result showed that some of clinical manifestations of patients in low altitude such as cardiac and liver condition were better. But it did not affect ferritin level probably due to transfusion and chelating therapy. Totally patients of Bushehr had better conditions and had longer survivals. Keywords: β-thalassemia major, Ferritin level, Cardiac function, Altitud

Chlamydia pneumoniae and Helicobacter pylori IgG seropositivities are not predictors of osteoporosis‑associated bone loss: a prospective cohort study

The potential link between infection with Chlamydia pneumoniae or Helicobacter pylori and osteoporosis has not been investigated in population-based longitudinal studies. A total of 250 healthy postmenopausal women who participated in a prospective cohort study were evaluated for IgG antibodies directed against C. pneumoniae and H. pylori, osteoprotegerin (OPG), the receptor activator of nuclear factor kappa B ligand (RANKL), CrossLaps, and osteocalcin. Bone mineral density (BMD) was measured at the femoral neck and lumbar spine at baseline and at follow-up 5.8 years later. There were no significant differences in age-adjusted bone turnover markers, OPG, RANKL, the RANKL/OPG ratio, and BMD between the C. pneumoniae and H. pylori IgG seropositive and seronegative subjects (P > 0.05). Neither C. pneumoniae nor H. pylori IgG seropositivity was associated with age-and body mass index-adjusted BMD at the femoral neck and lumbar spine or bone loss at the 5.8-year follow-up. In logistic regression analysis, neither C. pneumoniae nor H. pylori IgG seropositivities predicted incident lumbar or spine osteoporosis 5.8 years later. In conclusion, neither C. pneumoniae nor H. pylori IgG seropositivity was associated with bone turnover markers, the RANKL/OPG ratio, BMD, or bone loss in postmenopausal women. In addition, chronic infection with C. pneumoniae or H. pylori did not predict incident osteoporosis among this group of women. Keywords Chlamydia pneumoniae · Helicobacter pylori · Bone mineral density · Osteoporosi