Ocular involvement in primary immunodeficiency diseases.

Primary immunodeficiency diseases (PID) are a group of inherited disorders characterized by recurrent infections, and in many cases autoimmunity and malignancies. A number of PID patients suffer from a variety of ocular manifestations. Although these associated ocular features are not common, awareness combined with better understanding of the contributing mechanisms will allow prompt diagnosis and specific treatment, leading to reduction or prevention of serious visual morbidities.

Assessment of immune response following immunization with DTP/Td and MMR vaccines in children treated for acute lymphoblastic leukemia.

BACKGROUND: This study was performed to determine the antibody titers against diphtheria-tetanus-pertussis, and measles-mumps-rubella before and after re-vaccination in different periods of time in patients with acute lymphoblastic leukemia (ALL) to provide a suitable vaccination schedule. METHODS: Ninety patients with ALL were studied in three stages, including newly diagnosed patients, patients on maintenance therapy, and 1 to 12 months after cessation of therapy. Baseline antibody titers were assessed in all participants. Postimmunization antibody titers to DTP/Td and MMR vaccines were evaluated 3 weeks after vaccination. RESULTS: Patients on maintenance therapy had considerable decreased in seropositivity rate; they achieved seroconversion rate of 100% for diphtheria and tetanus and of 71.4% for pertussis following DTP/Td vaccination. In patients after one month off therapy, the seroconversion rates for diphtheria, tetanus, and pertussis were 71.4%, 80%, and 100%, respectively. The amounts of seroconversion in patients after 3 months off therapy were 66.5%, 80%, and 66.5% for measles, mumps, and rubella, respectively. In patients after 6 months off therapy, the seroconversion rates were 85.7% for diphtheria, 100% for pertussis and tetanus, 83.3% for mumps, 50% for rubella, and 41.6% for measles. Patients after 12 months off therapy achieved seroconversion rate of 100% for diphtheria, tetanus, pertussis, and mumps, of 71.5% for rubella, and of 63.5% for measles. CONCLUSION: Administration of one dosage of DTP/Td vaccine during maintenance therapy and after cessation of therapy could be recommended, while one dosage of MMR vaccine at least three months after completion of therapy could be safe and beneficial.

Comparison of Extracorporeal Shockwave Therapy and Blind Steroid Injection in Patients With Coccydynia: A Randomized Clinical Trial.

OBJECTIVE: Extracorporeal shockwave therapy (ESWT) emerged recently for the treatment of musculoskeletal conditions owing to its regenerative and anti-inflammatory effects. In this study, the aim was to compare the efficacies of ESWT and steroid injection in patients with coccydynia. DESIGN: Thirty-four patients with coccydynia were randomized into two groups. In the ESWT group, patients received radial shockwave for three weekly sessions. The second treatment group received an injection of steroid in the tip of the coccyx or sacrococcygeal junction. Outcome measures were visual analog scale, Short-Form Health Survey, and Dallas Pain Questionnaire. Visual analog scale was measured at baseline and 1 wk, 1 mo, 2 mos, and 6 mos after the intervention. Short-Form Health Survey and Dallas Pain Questionnaire were assessed before and 1 mo after treatment. RESULTS: The visual analog scale score was significantly decreased in all follow-ups in both groups. There was also a significant decrease between 1 wk and three other posttreatment visits in the ESWT treatment group. Time and group interaction effect was significant on the visual analog scale (F2.64, 84.63 = 2.95, P = 0.043), in favor of ESWT. Concerning the Short-Form Health Survey and Dallas Pain Questionnaire, only some dimensions improved. CONCLUSIONS: ESWT is an effective intervention in patients with coccydynia and had more long-lasting efficacy than steroid in terms of pain relief over 6 mos of observation.

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.

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.

Association between single nucleotide polymorphisms of the interleukin-4 gene and atopic dermatitis.

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<0.001, odds ratio (OR)=2.35), C at -590 (P<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<0.001, OR=3.59), -590 (P<0.001, OR=31.25) and -33 (P<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<0.001, OR=8.91). We detected a significantly lower frequency of TTC, GCC, and TTT haplotypes (P<0.001, OR=0.02, P<0.001, OR=0.40, P<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.

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.

BACKGROUND/AIMS: There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients. MATERIALS AND METHODS: DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Thirty patients with neonatal cholestasis were enrolled. Among those who underwent biopsies, the results revealed neonatal hepatitis in 19, bile duct paucity in 1, steatohepatitis in 1, bile duct proliferation in 1, cirrhosis in 2, fibrosis in 2, and extrahepatic biliary atresia in 1 patient. No mutant allele was found in any patient. CONCLUSION: The incidence of AAT deficiency is very low in Iran; therefore, screening for AAT is not recommended for patients with neonatal cholestasis in Iran.

Management of liver hemangioma using trans-catheter arterial embolization.

BACKGROUND: Hemangioma, a congenital vascular malformation, is the most common benign liver lesion that is usually remain stable subsequently requiring not treatment; however, complications such as abdominal pain or fullness, coagulation disturbances, and inflammatory syndrome may occur, demanding a specific treatment of hemangioma. OBJECTIVES: To assess the safety, feasibility and efficacy of trans-catheter arterial embolization (TAE) for the treatment of Liver hemangioma. PATIENTS AND METHODS: TAE was performed on 20 patients with liver hemangioma. The embolic agent used was polyvinyl alcohol (PVA) particles (300-400 micron, Jonson and Johnson Cordis, USA). All patients were followed up for 6 months. Imaging was carried out and patients were also evaluated symptomatically through telephone interview by a physician. RESULTS: Twenty patients aged from 21 to 63 years (mean: 46.8, SD: 10.26) were included in this study. Post embolization syndrome, including abdominal pain, fever, and leukocytosis occurred in one patient 1 week after TAE and lasted for 3 days. No serious adverse event and TAE-related death was observed. None of the patient underwent another intervention including surgery. During follow up interval, decreased episode of abdominal pain was documented in all patients who had pain. Tumor enlargement was also stopped during the follow up. The average diameter of tumors was 97.00 mm (range: 25-200 SD: 47.85) and 88.95 mm (range: 23-195 SD: 43.27) before and after embolization, respectively. Comparison of images before and after TAE revealed statistically significant decrease in the size of lesion (P value: 0.004, t: 3.31). CONCLUSIONS: Our findings indicate that TAE is a safe and efficient procedure for the treatment of liver hemangioma. Further studies with larger sample sizes are required to support therapeutic effects of TAE.