Surgical management of complete penile duplication accompanied by multiple anomalies.

Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication.

Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms.

BACKGROUND: The imbalance between pro-inflammatory and anti-inflammatory cytokines may play a role in the development of bronchopulmonary dysplasia (BPD) in preterm infants. Mannose binding lectin (MBL) codon 54 and interleukin 1 receptor antagonist gene (IL1-RN) polymorphisms cause genetic predisposition to increased risk of infection and inflammation, therefore may increase the risk of BPD. The aim of this study was to investigate the relationship between MBL, IL1-RN gene polymorphisms and BPD development in preterm infants. METHODS: MBL codon 54 and IL1-RN polymorphisms were studied in 71 infants who were born at <32 weeks of gestation, with the diagnosis of BPD (group 1) and in a control group of preterm infants without BPD (group 2). RESULTS: IL1-RN and MBL2 variant genes were closely associated with increased risk of BPD (both P < 0.001) together with significantly lower birthweight (P < 0.001 and P = 0.001, respectively), lower 5 min Apgar scores (P = 0.009 for both genes) and increased neonatal infection rate (P < 0.001 and P < 0.009, respectively). The IL1 RN 1/1 genotype was protective (odds ratio [OR], 0.075; 95% confidence interval [CI]: 0.019-0.76) while the IL1-RN 2/2 genotype increased the risk for BPD (OR, 11.7; 95%CI: 1.3-103.6). The MBL-AA genotype was protective against BPD (OR, 0.066; 95%CI: 0.02-0.2) whereas the MBL-BB genotype increased the susceptibility for the development of BPD (OR, 23.8; 95%CI: 2.8-200.6). CONCLUSION: MBL and IL 1 RN polymorphisms are closely related to low birthweight and increase the risk of neonatal sepsis and BPD development in preterm infants.

Interleukin-1 receptor antagonist and tumour necrosis factor-alpha gene polymorphisms in Turkish patients with allergic contact dermatitis.

BACKGROUND: It has been shown that the family of interleukin-1 receptor antagonist (IL-1 RA) and tumour necrosis factor-alpha (TNFalpha) genes are polymorphic and related to some inflammatory diseases. Allergic contact dermatitis is the classic presentation of delayed-type hypersensitivity responses to exogenous agents. A number of genes playing role in inflammatory response may be associated with allergic contact dermatitis. OBJECTIVES: To investigate whether there is an association between IL-1RA and TNFalpha gene polymorphisms and allergic contact dermatitis in Turkish patients with allergic contact dermatitis. METHODS: This study was performed by the collaboration of Departments of Dermatology and Medical Genetics, Ege University, Faculty of Medicine. A total of 50 patients (31 females and 19 males) with allergic contact dermatitis, and 100 age- and sex-matched controls (58 females and 42 males) were included in the study. IL-1RA Variable Number of Tandem Repeats (VNTR) polymorphism in intron 2 and TNFalpha-308G-A polymorphism were genotyped by using polymerase chain reaction and agarose gel electrophoresis. RESULTS: The frequency of IL-1RA 1/2 (48%) genotype was significantly higher (P = 0.002) in patient group than that is found in control group (22%). The frequency of TNFalpha (TNF G-308A) G/G genotype was significantly higher in patient group (68%) than that is found in control group (31%) (P = 0.008). CONCLUSIONS: Our findings suggest that TNFalpha (G/G) gene polymorphism may play role in susceptibility to allergic contact dermatitis in Turkish patients.

Evidence of an association between mannose binding lectin codon 54 polymorphism and adenoidectomy and/or tonsillectomy in children.

Mannose binding lectin (MBL) is a calcium-dependent lectin that plays an important role innate immunity by activating the complement pathway. There have been a number of studies describing an association between the MBL genotype and disease susceptibility. MBL deficiency has been described as one of the factors leading to a number of infections in children with recurrent upper respiratory tractus infections (URTI). We hypothesized that MBL deficiency may be associated with recurrent URTI, which requires adenoidectomy and/or adenotonsillectomy. In this study to clarify this hypothesis we investigated whether there may be an association between two low producing MBL variants and adenoidectomy and/or tonsillectomy due to recurrent URTI in children. Blood samples were collected, adenoidectomy and/or tonsillectomy due to recurrent URTI and 50 controls (mean age 80.53 +/- 32.62 months). In all patients and controls codon 54 and codon 57 polymorphisms of the MBL gene were analyzed. None of the subjects from the patient group and control group carried codon 57 polymorphism of the MBL gene. The frequency of low-level MBL genotypes (AB and BB) for codon 54 polymorphism in the patient group was found to be significantly higher compared to the control subjects (55.7% versus 14%) (p<0.001). This study shows that the presence of low-level MBL alleles is associated with adenoidectomy and/or tonsillectomy caused by recurrent URTI in children.

Detection of achondroplasia G380R mutation from PCR amplicons by using inosine modified carbon electrodes based on electrochemical DNA chip technology.

The detection of Achondroplasia G380R mutation from real samples was performed by monitoring the oxidation signal of guanine. Inosine-substituted 12-mer capture probes related to the homozygous or heterozygous alleles of Achondroplasia G380R mutation were adsorbed onto carbon paste electrode (CPE) surface. No guanine signal was obtained from the capture probes, since the inosine bases were electroinactive. Then, these probes were hybridized with the denatured PCR samples on the CPE surface. The hybridization between the probe and target sequences was determined by using the oxidation signal of guanine in connection with differential pulse voltammetry (DPV). The oxidation signal of guanine was observed as a result of the specific hybridization between the probe and PCR sample. The changes in the peak height of the guanine signal provided the information whether the PCR sample contained heterozygous allele or homozygous allele. Numerous factors affecting the hybridization and nonspecific binding events were optimized to detect down to 41.24 fmol/ml target DNA. The electrochemical detection of Achondroplasia G380R mutation from PCR samples greatly shortened and simplified the diagnosis for the homozygous mutant type, which is lethal for the newborn.