Association Between Single Nucleotide Polymorphisms of the Interleukin-4 Gene and Atopic Dermatitis

ABSTRACT Atopic dermatitis (AD) is an inflammatory skin disease in which both genetic and environmental factors seem to be involved. Several studies investigated the association of certain genetic factors with AD in different ethnic groups, but conflicting data were obtained. This study was performed to check the possible association between single nucleotide polymorphisms (SNPs) of interleukin 4 (IL-4) and the IL-4 receptor α chain (IL-4Rα) and AD in a group of Iranian patients. The allele and genotype frequencies of genes encoding for IL-4 and IL-4Rα were investigated in 89 patients with AD in comparison with 139 healthy controls, using methods based on polymerase chain reaction sequence-specific primers. The most frequent alleles of IL-4 in patients were T at -1098 (P&lt;0.001, odds ratio (OR)=2.35), C at -590 (P&lt;0.001, OR=4.84) and C at -33 (P=0.002, OR=2.08). The most frequent genotypes of IL-4 in patients were TT, CC, and CC at positions -1098 (P&lt;0.001, OR=3.59), -590 (P&lt;0.001, OR=31.25) and -33 (P&lt;0.001, OR=3.46), respectively. We found a significant lower frequency of GT at -1098 GT, TC at -590, and TC at -33 in patients. There were no statistically significant differences in the frequency of alleles and genotypes of IL-4Rα gene at position +1902. A strong positive association was seen between TCC haplotype and AD (68% in patients vs. 23.4% in controls, P&lt;0.001, OR=8.91). We detected a significantly lower frequency of TTC, GCC, and TTT haplotypes (P&lt;0.001, OR=0.02, P&lt;0.001, OR=0.40, P&lt;0.001, OR=0.39, respectively) in patients compared to controls. A significant association between the polymorphisms of the IL-4 gene promoter at positions -1098, -590, and -33 and AD was detected in the Iranian population. Key words: atopic dermatitis; polymorphism, single nucleotide; interleukin-4 gene</p

Nutrition and osteoporosis prevention and treatment

Introduction: Osteoporosis falls among the major general health issues, specifically in the elderly, and is a widespread disease these days. According to various studies, good nutrition plays a significant role in osteoporosis prevention and treatment. The aim of this study was to conduct an extensive literature review on the effects of different nutrients to understand how macronutrients, micronutrients, and non-nutritive substances affect bone health. Methodology: To find relevant studies, the main keyword "osteoporosis" was searched in combination with "zinc," "vitamin K," "phosphorus," "vitamin D," "calcium," "lipid," "protein," and "phytoestrogens" in PubMed (MEDLINE), Web of Science, SID, and Iran Medex databases. Findings: The most important element for bone health is calcium, which has a direct link to the bone mass density (BMD). In the case of calcium deficiency, high phosphorus content can damage bone tissue. The acceptable ratio of phosphorus to calcium is 0.5-1.5:1. Vitamin D is another important nutrient for bones; serum levels of vitamin D less than 20 ng/ml reduce bone density and increase the risk of fracture. High protein intake results in calcium excretion and loss of bone mass. In addition, calcium deficiency increases the risk of osteoporosis, specifically in the elderly. According to the literature, there is an inverse correlation between saturated fats and BMD. Vitamin K and magnesium deficiencies are correlated with BMD reduction and increased risk of osteoporosis. Copper and zinc are used as co-factors in the formation of collagen and elastin, and in mineralization of bone. As a result, deficiency of these elements may disrupt the process of incorporating minerals into the bone matrix. Conclusion: Good nutrition may play a significant role in osteoporosis prevention and treatment. Indeed, a healthy diet containing calcium (1,200 mg/day); vitamin D (600 IU); and certain amounts of protein, magnesium, and vitamin K can contribute greatly to bone health

Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome

Berardinelli-Seip congenital lipodystrophy (BSCL) is an autosomal recessive disorder, characterized by the generalized absence of subcutaneous fat and muscular hypertrophy. Meanwhile other signs and symptoms have already been reported with this genetic disorder. Herein, we report an infant with BSCL, who was referred to our center because of acromegaloid and muscular appearance from the age of three months. He had dark skin, hypertrichosis prominent subcutaneous vessels and organomegaly in physical examination. Genetic study showed novel homozygous mutations in the AGPAT2 gene, which confirmed diagnosis of BSCL in this patient. Although clinical suspicious could help us to make diagnosis of congenital disorders, definite diagnosis relies on genetic studies.

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease

Specific immunotherapy in renal cancer: a systematic review

Background: Renal cell cancer (RCC) is the tenth most common malignancy in adults. In recent years, several approaches of active and passive immunotherapy have been studied extensively in clinical trials of patients with RCC. The aim of this systematic review was to assess the clinical efficacy of various approaches of specific immunotherapy in patients with RCC. Methods: We searched Medline, Scopus, CENTRAL, TRIP, DART, OpenGrey and ProQuest without any language filter through to 9 October 2015. One author reviewed search results for irrelevant and duplicate studies and two other authors independently extracted data from the studies. We collated study findings and calculated a weighted treatment effect across studies using Review Manager (version 5.3. Copenhagen: The Nordic Cochrane Centre, the Cochrane Collaboration). Results: We identified 14 controlled studies with 4013 RCC patients after excluding irrelevant and duplicate studies from 11,319 references retrieved from a literature search. Overall, five autologous tumor cell vaccines, one peptide-based vaccine, one virus-based vaccine and one dendritic cell (DC)-based vaccine were studied in nine controlled studies of active specific immunotherapies. A total of three passive immunotherapies including autologous cytokine-induced killer (CIK) cells, auto lymphocyte therapy (ALT) and autologous lymphokine-activated killer (LAK) cells were studied in four controlled studies. The clinical efficacy of tumor lysate-pulsed DCs, with CIK cells was studied in one controlled trial concurrently. The overall quality of studies was fair. Meta-analysis of seven studies showed that patients undergoing specific immunotherapy had significantly higher overall survival (OS) than those in the control group [hazard ratio (HR) = 0.72; 95% confidence interval (CI) = 0.58–0.89, p = 0.003]. In addition, a meta-analysis of four studies showed that there was a significant difference in progression-free survival (PFS) between patients undergoing specific immunotherapy and patients in control groups (HR = 0.86; 95% CI = 0.73–1, p = 0.05). Conclusions: Results of this systematic review suggest that some specific immunotherapies such as Reniale, ACHN-IL-2, Newcastle disease virus (NDV) virus-infected autologous tumor cells, ALT and CIK treatment could be beneficiary for the treatment of patients with RCC