The effect of Mediterranean diet on inflammatory biomarkers and components of metabolic syndrome in adolescent girls.

BACKGROUND: The prevalence of obesity and metabolic syndrome (MetS) during childhood and adolescence is rising significantly worldwide. Previous studies have shown that following a healthy dietary pattern, like the Mediterranean diet (MD), might be an efficacious approach for the prevention and management of MetS during childhood. In the present study, we aimed to examine the effect of MD on inflammatory markers and components of MetS among adolescent girls with MetS. METHODS: This randomized controlled clinical trial was conducted on 70 girl adolescents with metabolic syndrome. Patients in the intervention group followed a prescribed MD, while participants in the control group received dietary advice according to the food pyramid. The length of intervention was 12 weeks. Participants' dietary intakes were evaluated using three 1-day food records throughout the study. Anthropometric measures, inflammatory markers, systolic and diastolic blood pressure, and hematological factors were assessed at the baseline and end of the trial. An intention-to-treat approach was taken into account for the statistical analysis. RESULTS: After 12 weeks, participants in the intervention group had lower weight (Ptime*group ≤ 0/001), body mass index (BMI) (Ptime*group ≤ 0/001), and waist circumference (WC) (Ptime*group ≤ 0/001) compared with those in the control group. In addition, MD resulted in a significantly reduced systolic blood pressure compared to the those in the control group (Ptime*group ≤ 0/001). In terms of metabolic variables, MD led to a significant decrease in fasting blood glucose (FBS) (Ptime*group ≤ 0/001), triglycerides (TG) (Ptime*group ≤ 0/001), low-density lipoprotein (LDL) (Ptime*group ≤ 0/001), homeostatic model assessment of insulin resistance (HOMA-IR) (Ptime*group = 0/02) and a meaningful increase in serum levels of high-density lipoprotein (HDL) (Ptime*group ≤ 0/001). In addition, adherence to the MD resulted in a significant reduction in serum levels of inflammatory markers including Interleukin 6 (IL-6) (Ptime*group = 0/02) and high-sensitivity C-reactive protein (hs-CRP) (Ptime*group = 0/02). However, no significant effect was seen on serum levels of tumor necrosis factor α (TNF-α) (Ptime*group = 0/43). CONCLUSION: Overall, the findings of the present study revealed that consumption of MD for 12 weeks resulted in a favorable effect on anthropometric measures, components of MetS, as well as on some inflammatory biomarkers.

Culture Matters in Communicating the Global Response to COVID-19.

Current communication messages in the COVID-19 pandemic tend to focus more on individual risks than community risks resulting from existing inequities. Culture is central to an effective community-engaged public health communication to reduce collective risks. In this commentary, we discuss the importance of culture in unpacking messages that may be the same globally (physical/social distancing) yet different across cultures and communities (individualist versus collectivist). Structural inequity continues to fuel the disproportionate impact of COVID-19 on black and brown communities nationally and globally. PEN-3 offers a cultural framework for a community-engaged global communication response to COVID-19.

The risk of contralateral breast cancer in daughters of women with and without breast cancer.

We aimed to estimate the 15-year and lifetime risks of contralateral breast cancer in breast cancer patients according to the age of diagnosis of the first cancer and the history of breast cancer in the mother. The risks of contralateral breast cancer were estimated for all 78,775 breast cancer patients in the Swedish Family-Cancer Database (age at diagnosis of first breast cancer <70 years). The risk of experiencing a contralateral breast cancer within 15 years of diagnosis was 8.4% [95% confidence interval (CI): 8.1-8.7%] for women with an unaffected mother, was 12% (95%CI: 11-13%) for a woman with a mother with unilateral breast cancer and was 13% (95%CI: 9.5-17%) for women with a mother with bilateral breast cancer. In early-onset diagnosed women (<50 years) with an unaffected mother, the risk of contralateral breast cancer until age 80 was 23% (95%CI: 20-26%) and for late-onset (50-69 years) diagnosed women it was 17% (95%CI: 14-21%). In a woman with a mother with an early-onset unilateral breast cancer, risk of contralateral breast cancer by age 80 was 35% (95%CI: 25-46%). Women with a mother with early-onset bilateral breast cancer had 31% (95%CI: 12-67%) lifetime risk of contralateral breast cancer. The risk of contralateral breast cancer is higher for daughters of breast cancer patients than for daughters of women without breast cancer. Maternal cancer history and age at onset of first breast cancer in women should be taken into account when counseling breast cancer patients about their risk of contralateral breast cancer.

A Ferromagnetic Salicylaldoximate/Azide Mn(II)2Mn(III)6 Cluster with an S = 17 Ground State and a Single-Molecule-Magnet Response.

One new Mn(II)2Mn(III)6 cluster exhibiting an S = 17 spin ground state and single-molecule-magnet properties has been designed linking Mn(III)3-salicylaldoximate triangles and tetracoordinated Mn(II) cations by means of end-on azido bridges. The ferromagnetic coupling has been rationalized as a function of their structural parameters.

Risk assessment of gas oil and kerosene contamination on some properties of silty clay soil.

Soil and ground water resource pollution by petroleum compounds and chemical solvents has multiple negative environmental impacts. The aim of this research was to investigate the impacts of kerosene and gas oil pollutants on some physical and chemical properties, breakthrough curve (BTC), and water retention curve (SWRC) of silty clay soil during a 3-month period. Therefore, some water-saturated soils were artificially contaminated in the pulse condition inside some glassy cylinders by applying half and one pore volume of these pollutants, and then parametric investigations of the SWRC were performed using RETC software for Van Genukhten and Brooks-Corey equations in the various suctions and the soil properties were determined before and after pollution during 3 months. The results showed that gas oil and kerosene had a slight effect on soil pH and caused the cumulative enhancement in the soil respiration, increase in the bulk density and organic matter, and reduction in the soil porosity and electrical and saturated hydraulic conductivity. Furthermore, gas oil retention was significantly more than kerosene (almost 40%) in the soil. The survey of SWRC indicated that the contaminated soil samples had a little higher amount of moisture retention (just under 15% in most cases) compared to the unpolluted ones during this 3-month period. The parametric analysis of SWRC demonstrated an increase in the saturated water content, Θ s, from nearly 49% in the control sample to just under 53% in the polluted ones. Contaminants not only decreased the residual water content, Θ r, but also reduced the SWRC gradient, n, and amount of α parameter. The evaluation of both equations revealed more accurate prediction of SWRC's parameters by Van Genukhten compared to those of Brooks and Corey.

Autoimmune diseases associated with non-Hodgkin lymphoma: a nationwide cohort study.

BACKGROUND: The cumulative risk of non-Hodgkin lymphoma (NHL) in Sweden by age 80 years has increased to 1.1 in women and 1.6% in men in 2011. Increased risk of NHL associated with personal histories of some autoimmune diseases (ADs) is known. It is unclear whether there are other NHL-related ADs and whether this association holds across different sex, age and year of diagnosis, or NHL histological subtypes. PATIENTS AND METHODS: Over an average of 9.4-year (maximum 47 years) follow-up of 878 161 patients diagnosed in 1964-2010 with 33 different ADs, 3096 subsequent NHL were diagnosed (data: Swedish Cancer Registry). RESULTS: Of 33 studied ADs, 21 showed significantly increased risk of NHL; 6 of them tended to increase the risk and none significantly decreased it. The overall standardized incidence ratio (SIR) for NHL after ADs was 1.6 [novel findings: immune thrombocytopenic purpura (ITP) = 7.5, polymyositis/dermatomyositis = 4.1, primary biliary cirrhosis = 3.9, myasthenia gravis = 2.2, Behcet = 1.7, rheumatoid fever = 1.7, ulcerative colitis = 1.5, polymyalgia rheumatica = 1.4, and chronic rheumatic heart disease = 1.4; confirmatory findings: autoimmune hemolytic anemia = 27.2, Sjögren = 4.9, Celiac = 4.8, systemic lupus erythematosus = 4.4, polyarteritis nodosa = 2.9, discoid lupus erythematosus = 2.7, sarcoidosis = 2.6, Crohn = 2.1, systemic sclerosis = 2.1, rheumatoid arthritis = 2.0, and Hashimoto/hypothyroidism and psoriasis = 1.4]. SIR for NHL diagnosis before age 60 (2.2) was significantly higher than that in older ages (age ≥60: 1.5). The SIRs in women or men and in period 1993-2010 or 1964-1992 were similar. Risk of all common NHL histology subtypes significantly increased after ADs (cutaneous/peripheral T cell and anaplastic large T and null cell = 2.2; small B-cell lymphocytic = 1.7; diffuse large B cell = 1.6; follicular and mantel cell = 1.3). CONCLUSION: Many of 33 studied ADs (except for ankylosing spondylitis, diabetes type I graves/hyperthyroidism, multiple sclerosis, chorea minor, and pernicious anemia), especially when diagnosed at younger ages, were associated with higher risk of NHL. However, the absolute risk of NHL in many ADs is still small.

Hodgkin lymphoma after autoimmune diseases by age at diagnosis and histological subtype.

BACKGROUND: Increased risk of Hodgkin lymphoma (HL) associated with personal history of several autoimmune diseases (ADs), such as rheumatoid arthritis, systemic lupus erythematosus, sarcoidosis, and immune thrombocytopenic purpura, are known. Whether there are other HL-related ADs and whether the increased risk of HL after ADs holds across sex, age, year of diagnosis, or HL histological subtype is unclear. PATIENTS AND METHODS: We systematically analyzed the risk of HL in 878 161 Swedish patients diagnosed with 33 different ADs in 1964-2010. During ∼10-year follow-up of ADs patients, 371 incident HL cases were diagnosed. RESULTS: Significantly increased overall standardized incidence ratio (SIR) for HL after ADs was 2.0 (95% confidence interval: 1.8-2.2); AD-specific SIRs: autoimmune hemolytic anemia 19.9 (7.2-43.6), sarcoidosis 10.3 (7.8-13.4), systemic lupus erythematosus 8.4 (5.2-12.9), immune thrombocytopenic purpura 7.0 (3.2-13.3), polyarteritis nodosa 6.6 (1.2-19.5), polymyositis/dermatomyositis 6.3 (2.0-14.9), Behcet's disease 5.6 (2.7-10.3), Sjögren's syndrome 5.0 (2.1-9.8), rheumatoid arthritis 3.2 (2.6-3.9), polymyalgia rheumatica 2.2 (1.4-3.5), and psoriasis 1.9 (1.3-2.6). Men with AD had slightly higher risk of HL (2.4, 2.0-2.7) compared with women (1.8, 1.5-2.0). Only 23% of ADs were diagnosed before age 35 years and the overall SIR for HL diagnosis before age 35 [1.4, (1.0-1.8)] was lower than that in older ages [35 ≤ age < 50: 2.1 (1.6-2.7); age ≥ 50: 2.2 (2.0-2.5)], except for sarcoidosis [age < 35: 19.3 (10.5-32.5); 35 ≤ age < 50: 10.4 (5.7-17.5); age ≥ 50: 8.4 (5.6-12.1)]. Risks of all classical HLs significantly increased after ADs: lymphocyte depletion 3.7 (1.5-7.6), lymphocyte-rich 3.7 (2.3-5.9), mixed cellularity 2.4 (1.8-3.2), and nodular sclerosis 1.7 (1.3-2.1). CONCLUSION: Several, but not all ADs (11/33), had a positive association with all classical histological subtypes of HL. Higher risks of classical HL after polyarteritis nodosa, polymyositis/dermatomyositis, Behcet's disease, Sjögren's syndrome, polymyalgia rheumatica, and psoriasis were novel findings of this study.

Use of topical liposomes containing meglumine antimoniate (Glucantime) for the treatment of L. major lesion in BALB/c mice.

Treatment of cutaneous leishmaniasis (CL) is a dream for the patients, health care authorities and scientists. The aim of this study was to develop a topical liposomal meglumine antimoniate (MA, Glucantime™) (Lip-MA) formulation and evaluate the therapeutic effects of the preparation on lesion induced by Leishmania major in BALB/c mice. Liposomes containing 22.5% MA (6.4% Sb(+5)) with and without oleic acid (LMA-OA and LMA) were formulated using fusion method plus homogenization and characterized for the size and encapsulation efficiency. The penetration of MA from the LMA-OA and LMA formulations through and into the skin was checked in vitro using Franz diffusion cells fitted with mouse skin at 37°C for 8h. The in vitro permeation data showed that almost 1.5% of formulations applied in the mouse skin were penetrated and the amount retained in the skin was about 65%. The 50% effective dose of LMA and LMA-OA against amastigotes of L. major was 46.36 and 41.01 µg/ml, respectively. LMA or LMA-OA was used topically twice a day for 4 weeks to treat the lesion induced by L. major in susceptible BALB/c mice. The results showed a significantly (P<0.001) smaller lesion size in the treated groups of mice compared to the control groups which received either empty liposomes or phosphate-buffered saline (PBS). The spleen parasite burden was significantly (P<0.001) lower in the treated groups compared to the control groups receiving either empty liposomes or PBS at the end of the treatment period. However, when the treatment was stopped, the lesion size progressed and spleen parasite burden increased in LMA and LMA-OA groups, but still was significantly less than the control groups (P<0.05). There was no significant difference between the two formulations of LMA and LMA-OA. The results suggested that topical liposomes containing MA might be an appropriate choice for clinical trials for the treatment of CL.

Magnetic study and DFT analysis of a doubly carboxylato-bridged Co(II) derivative anchored with a 'scorpionate' precursor as a potential electrocatalyst for heterogeneous H2 evolution.

A new doubly carboxylato-bridged Co(II) dinuclear complex, [Co(bdtbpza)(NCS)]2 (1), was obtained in a satisfactory yield by employing a 'scorpionate'-type precursor, bdtbpza {bis-(3,5-di-tert-butylpyrazol-1-yl)acetate}, and was then structurally characterized. Single-crystal X-ray diffraction analysis revealed that, in 1, each Co(II) is penta-coordinated, leading to a distorted trigonal-bipyramidal geometry within the coordination environment of N3O2. Weak antiferromagnetic coupling within the Co(II) ions in 1 was found based on the isotropic spin Hamiltonian H = -J(S1·S2) for the Si = 3/2 system. For evaluating the spin density distribution and the mechanism for the magnetic exchange coupling, DFT analysis was performed, with the calculated result agreeing the experimental magnetic data. A study into electrochemical H2 evolution, involving cyclic voltammetry (CV), controlled potential electrolysis (CPE), and gas chromatographic (GC) analyses of the graphite electrode modified with the cobalt complex in a neutral aqueous solution revealed the high catalytic activity of the complex with a low overpotential toward H2O reduction. The faradaic efficiency of the catalyst was found to be 83.7% and the di-cobalt catalyst-modified electrode displayed quite an interesting H2-evolution activity compared with that of bare electrodes. These results are encouraging for the future potential application of 1 in water splitting.

Hexanuclear copper(II) cages built on a central {µ3-O···H···µ3-O} moiety, 1,3-bis(dimethylamino)-2-propanolato and capping R-phosphonates: crystal structures, magnetic behavior, and DFT studies.

The syntheses, structural characterization, and magnetic behavior of two new hexanuclear copper(II) complexes derived from R-phosphonic acids and 1,3-bis(dimethylamino)-2-propanol (Hbdmap) with formulas [Cu(6)(µ-bdmap)(3)(µ(3)-Ph-PO(3))(2)(µ(3)-O···H···µ(3)-O)(ClO(4))(2)(H(2)O)]·5H(2)O (1) and [Cu(6)(µ-bdmap)(3)(µ(3)-t-Bu-PO(3))(2)(µ(3)-O···H···µ(3)-O)(µ(1,3)-dca)(dca)(H(2)O)]·6H(2)O (2) (Ph-H(2)PO(3) = phenylphosphonic acid, t-Bu-H(2)PO(3) = tert-butylphosphonic acid, dca = dicyanamide) are reported. Compounds 1 and 2 are hexanuclear 3.111 R-phosphonate(2-)/1,3-bis(dimethylamino)-2-propanolato(1-) cages including in the center the [µ(3)-O···H···µ(3)-O](3-) unit. The temperature dependence of the magnetic properties of 1 and 2 clearly indicates an overall strong antiferromagnetic coupling confirmed by DFT calculations.

Nervous system tumors in adult immigrants to Sweden by subsite and histology.

BACKGROUND: The coding of histology of nervous system (NS) tumors with various degrees of malignancies differs between cancer registries, whereby the comparison of incidence rates from one registry to another seems difficult. No study has systematically defined whether the change in the risk of NS tumors upon immigration in adulthood varies by subsite or histology. Therefore, we aimed to address this issue amongst the first-generation immigrants to Sweden based on a large uniform cancer registry data (1958-2006). METHODS: The nationwide Swedish Family-Cancer Database (2008 version; >11.8 million individuals; 1.8 million immigrants; histology code in force since 1958) was used to calculate standardized incidence ratios (SIRs). We analyzed 28,981 adult cases of NS tumors amongst Swedes and 2519 amongst immigrants (age ≥ 30). RESULTS: Significantly decreased risks for brain glioma were amongst German (SIR = 0.64), Eastern European (0.62), some Asian (0.71), Chilean (0.34), and African immigrants (0.52). We found an increased risk for brain meningioma amongst Finns (1.15) and former Yugoslavians (1.33), whilst only Norwegians (0.71) and Latin Americans (0.21) had a decreased risk. The risk for spinal ependymoma and astrocytoma was increased in Germans (3.66) and former Yugoslavians (8.89). We found no significant difference for peripheral nerve tumors between immigrants and the native Swedes. CONCLUSION: Significant differences between risk of NS tumors amongst immigrants and the native Swedes may suggest different risk factor profiles for glioma compared to meningioma indicating a higher etiological role of genetic background or childhood environmental risk factors rather than exposures after immigration.

Spread of West Nile virus in Iran: a cross-sectional serosurvey in equines, 2008-2009.

We report the first large-scale serosurvey for West Nile virus (WNV) conducted in the equine population in Iran. Blood samples were obtained in 2008-2009 from 1054 equines collected from 260 districts located in 27 provinces. The overall seroprevalence rate for WNV neutralizing antibodies was 23·7%. Marked geographical variations were observed as province-specific seroprevalence rates ranged from 1% to 88%, the highest values being observed in the southern and western parts of the country. The presence of IgM-positive animals (n=9) indicated a recent circulation of WNV in several provinces. Logistic modelling confirmed this result with a significant effect of age on seropositivity. This study revealed extensive circulation of WNV in Iran particularly in southwestern provinces where the virus probably circulates every year.

One pot synthesis of heterometallic 3d-3d azide coordination architectures: effect of the single-ion anisotropy.

Five new isomorphic three-dimensional (3D) heterometallic 3d-3d azide complexes, [CuNi(1-x)Co(x)(N(3))(2)(isonic)(2)](∞) (x = 0 for 1, x = 0.3 for 2, x = 0.5 for 3, x = 0.6 for 4, and x = 1 for 5), were obtained by assembling Cu(II), M(II) (Ni(II) and Co(II)), azide, and pyridyl carboxylate in hydrothermal condition. The 3D structure can be described as end on (EO) azide and syn,syn carboxylates mixed bridged alternate Cu-M chains linked by the pyridyl groups. Dominant ferromagnetic interactions were observed between the Cu(II) and M(II) ions in the chains. At low temperature diverse magnetic phenomena were presented in those complexes. As the Ni(II) ions were replaced by Co(II) ions with large anisotropy, the magnetism of the complexes change gradually from metamagnet to single-chain magnet (SCM)-like behaviors.

Idiopathic generalized epilepsies: a follow-up study in a single-center.

OBJECTIVE: To characterize adult patients with idiopathic generalized epilepsies (IGEs) with precise evaluation and to assess factors related to refractoriness. MATERIALS AND METHODS: Hospital records of all our patients with IGEs (n = 128) were evaluated in 2005 and followed-up until 2008. RESULTS: In 2005, 76% of patients were 1-year seizure-free. Seizure freedom increased to 82% during the 3-year follow-up. Seizure freedom was not significantly associated with age, age at diagnosis, epilepsy duration, exposure to inappropriate initial antiepileptic drug (AED), or delay time between starting initial AED and appropriate AED. Women constituted 78% of patients with merely provoked seizures. In 58% of women with recent seizure, one to two avoidable precipitating factors, such as lack of sleep, alcohol, and forgetting to take AED, were observed. In 2008, all patients with no medication, 91% of monotherapy patients, 60% of patients on two AED, and 14% of patients on three AED were seizure-free. CONCLUSIONS: Most of patients with IGEs can be successfully treated with monotherapy. Refractory seizures in some patients may be because of avoidable factors, especially in young women.

Studies on Magnetic and Dielectric Properties of Antiferromagnetically Coupled Dinuclear Cu(II) in a One-Dimensional Cu(II) Coordination Polymer.

A one-dimensional Cu(II) coordination polymer with encapsulated antiferromagnetically coupled binuclear Cu(II) has been synthesized by using 5-nitroisophthalic acid (5-N-IPA) and 4-aminopyridine (4-APY) [Cu2(5-N-IPA)2(4-APY)4] n (1). Electrical properties are examined by complex impedance (Z*), dielectric permittivity (ε*), and ac conductivity studies at different frequencies (10 kHz-5 MHz) and temperatures (253-333 K). The contribution of grain and grain boundary has been explained by a different theoretical model. The variable temperature magnetic susceptibility data for compound 1 were recorded between 300 and 2 K. The shape of the curve (χM T vs T) indicates dominant antiferromagnetic coupling, which results from the interaction between the copper(II) atoms.

The high prevalence of antiphospholipid antibodies in refractory focal epilepsy is related to recurrent seizures.

BACKGROUND: Previous studies have shown the association between antiphospholipid antibodies with epilepsy but there are no studies addressing the effect of seizure frequency, duration of epilepsy, epilepsy type and aetiology on the prevalence of these antibodies in well-evaluated refractory epilepsy. METHODS: Anticardiolipin, anti-beta2-glycoprotein I and antinuclear antibody levels were measured in 105 well-evaluated patients with refractory focal epilepsy. Clinical determinants included the patient history, electroclinical classification and high resolution brain magnetic resonance imaging. RESULTS: Patients with seizures during the month prior to sampling (recent seizures) had increased prevalence of immunoglobulin (Ig) G class anticardiolipin antibodies (29%) compared with healthy controls [13%; age-adjusted odds ratio (OR): 3.09, 95% confidence interval (CI): 1.30-7.34] and patients with no recent seizures (11%; age-adjusted OR: 4.00, CI: 0.84-19.02). The patients with recent seizures had increased prevalence of moderate positive IgG class anticardiolipin antibodies (12%) compared with the controls (4%) and the patients with no recent seizures (0%; age-adjusted OR: 4.45, CI: 1.14-17.36). The prevalence of IgG class anticardiolipin antibodies was not associated with epilepsy type, duration or aetiology. CONCLUSION: The presence of antiphospholipid antibodies is associated with recurrent seizures in patients with refractory focal epilepsy. The measurement of these antibodies may be useful in evaluating the outcome of epilepsy.

Retention rates of new antiepileptic drugs in localization-related epilepsy: a single-center study.

OBJECTIVES: We evaluated long-term retention rates of newer antiepileptic drugs (AED) in adults with localization-related epilepsy retrospectively. METHODS: We estimated retention rates by Kaplan-Meier method in all 222 patients (age > or = 16) with localization-related epilepsy exposed to new AED at the Tampere University Hospital. RESULTS: There were 141 patients exposed to lamotrigine, 78 to levetiracetam, 97 to topiramate, 68 to gabapentin, and 69 to tiagabine. Three-year retention rate for lamotrigine was 73.5%, levetiracetam 65.4%, topiramate 64.2%, gabapentin 41.7%, and tiagabine 38.2%. The most common cause for withdrawal of these AED was lack of efficacy. CONCLUSIONS: Our study suggests that there are clinically significant differences among gabapentin, lamotrigine, levetiracetam, tiagabine, and topiramate as treatment for focal epilepsy in everyday practice. Gabapentin and tiagabine seem to be less useful than the other three AED. Furthermore, our study supports the value of retention rate studies in assessing outcome of the drugs in clinical practice.

Gene polymorphism in transforming growth factor-beta codon 10 is associated with susceptibility to Giardiasis.

Secretory immunoglobulin A (S-IgA) antibodies have a central role in anti-Giardial defence. It has been demonstrated that transforming growth factor-beta1 (TGF-beta1) stimulates B lymphocytes to produce and secrete S-IgA. We sought to determine the association between TGF-beta1 polymorphism (T+869C) with susceptibility to Giardiasis. The TGF-beta1 genotypes and levels of salivary (S-IgA) were analysed in individuals with Giardiasis (97 symptomatic and 57 asymptomatic) and controls (n = 92). Individuals with symptomatic Giardiasis had the lowest levels of S-IgA compared to individuals in asymptomatic Giardiasis and control groups (97%, 73% and 43%, <1 g L(-1), respectively, P = 0.002). The frequency of allele C and CC genotypes of TGF-beta1 polymorphism was significantly higher among symptomatic patients than asymptomatic and control groups. Logistic regression analysis demonstrated that the individuals homozygous for allele C of TGF-beta1 had a significantly higher risk for symptomatic Giardiasis with odds ratio of 2.76 (95% CI: 3.88, 1.71, P = 0.007). Among the participants with TT genotype per cent of individuals with S-IgA level of more than 1 g L(-1) was almost twice the percentage in CC genotype individuals (14% versus 7% respectively P = 0.01). Our data suggest that CC genotype of TGF-beta1 polymorphism at codon 10 is associated with occurrence of Giardiasis.

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.

BACKGROUND: Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbß3 integrin. The αIIbß3 is a platelet fibrinogen receptor, which is required for platelet aggregation, firm adhesion, and also spreading. The disease is more prevalent in the populations with a higher rate of consanguineous marriages as in some Middle Eastern populations including Iraq, Jordan, and Iran. Different types of mutations in ITGA2B and ITGB3 genes have been previously reported to cause the disease. RESULT: In this study, 16 patients with the clinical diagnosis of GT were studied. Direct sequencing of the exons and exon-intron boundaries of the above genes revealed mutations in 14 patients (detection rate: 87.5%). Briefly, out of fifteen types of identified mutations, 14 were novel. Seven mutations in the ITGB3 gene included 4 missense [c.2T > C, c.155 G > T, c. 538 G > A, c.1990 G > T], one nonsense mutation [c.1303 G > T], a small deletion [c.1656_1658delCTC] and a deletion of one nucleotide [c.401delA]. Mutations in the ITGA2B were 8 different mutations consisting 2 missense [c.286 T > A, c.842 C > T], 2 deletions [c.1899 del T, c.189-319_236del], an insertion [c.1071_1072insG] and one splice site mutations [c.409-3 C > G], one synonymous mutation that might alter the normal splicing process [c.1392 A > G] and a nonsense mutation [c.1555 C > T]. The causative mutation in 2 patients remained unknown. Using long-range PCR and sequencing, we found a rather large deletion. The break point of this deletion covers 319 nt from the last part of the first intron and 48 nt from the beginning of the second exon of ITGA2B gene. The deletion was also detected in two unrelated patients with the same ethnicity. In addition, in silico analyses of novel mutations were performed. CONCLUSION: There was no recurrent mutation in the studied population. This may be due to either small sample size or the heterogeneity of the studied population.