Laparoscopy in the Management of Impalpable Testicle

Purpose : In paediatric urology, one of the main applications of laparoscopy is the evaluation and treatment of impalpable testis. Herein we present our initial experience with laparoscopy in patients with impalpable testis. Material and Methods : Laparoscopy was performed under general anaesthesia on 13 patients. If the internal spermatic vessels and vas deferens made their way into the internal inguinal ring, the inguinal canal was dissected. Laparoscopic orchiopexy or orchiectomy was performed in cases with intra-abdominal testis. If the internal spermatic vessels found terminated intraperitoneally with a blind-end, the case was considered as a vanishing testis.

Results : Thirteen boys, aged from 18 months to 25 years (median 9.8 years) were identified with 21 impalpable testes. 14 of the 21 impalpable testes, the vas and the vessels were through the internal ring, and the inguinal region needed dissection. Orchiopexy was performed on 12 testes and orchiectomy was performed on two atrophic testes. Four of 21 testes were intra-abdominally localized. Laparoscopic orchiopexy was performed in two testes and laparoscopic orchiectomy was performed in two testes. Two boys were diagnosed as vanishing testes; the absence was unilateral on the left side in one case and bilateral in the other.

Conclusion : Diagnostic laparoscopy is a very helpful, minimally invasive technique in the diagnosis of impalpable testes especially when ultrasonography and/or computed tomography are not informative enough. In addition, orchiectomy and orchiopexy can be done as laparoscopically in the patients with intra-abdominal testes. Therefore, the laparoscopy has an important role in the diagnosis and treatment of impalpable testes.     

Glucose-6-phosphate dehydrogenase activity, structure, molecular characteristics and role in neonatal hyperbilirubinemia in cord blood in Cukurova region

The most common causes of neonatal indirect hyperbilirubinemia are blood incompatibility and erythrocyte enzyme defects. Glucose-6-phosphate dehydrogenase (G6PD) is a guarantee of erythrocyte stability and capability of existence of red cells. We present here the results of a study on the effect of enzyme kinetics and different mutations on neonatal hyperbilirubinemia in the Cukurova region. Two hundred healthy term male neonates born in Cukurova University Balcall Hospital, Adana Maternity Hospital and Cukurova Maternal and Children's Hospital between 1 November 2004 and 30 November 2007 were consecutively studied. Nanogen DNA microarray was used to determine Gd Union, Gd San, Gd Mediterranean, and Gd San Antonio mutations. Quantitative G6PD enzyme assays were performed. Glucose-6-phosphate dehydrogenase deficiency was detected in six out of 200 male neonates (3%). The other 194 neonates had normal G6PD activity, with a mean of 8.3 +/- 2.1 IU/g hemoglobin (Hb) (5.2-12.7 IU/g Hb). Clinical follow-up, enzyme kinetics and genetic studies were performed in the G6PD-deficient neonates. Differences were observed in clinical outcomes, rates of bilirubin decline and maximum total bilirubin levels in the neonates having the same mutation. These differences might be caused by the effects of kinetic variant on the hyperbilirubinemia without the direct effect of the mutation. In future studies, mutation analyses of further G6PD-deficient cases may address the genotype differences and their clinical effects in G6PD-deficient patients.     

Association of TNF-α Gene Variants With Clinical Manifestation of Cystic Fibrosis Patients of Iranian Azeri Turkish Ethnicity

Background:

Cystic fibrosis (CF), a life-limiting autosomal recessive disorder, is considered a monogenic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. According to several studies, mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene alone is insufficient to predict the phenotypic manifestations observed in cystic fibrosis (CF) patients. In addition, some patients with a milder CF phenotype do not carry any pathogenic mutation. Tumor Necrosis Factor-alpha (TNF-α) contributes to the pathophysiology of CF by causing cachexia. There is a reverse association between TNF-α concentration in patient''s sputum and their pulmonary function.

Objectives:

To assess the effect of non-CFTR genes on the clinical phenotype of CF, two polymorphic sites (-1031T/C and -308G/A) of the TNF-α gene, as a modifier, were studied.

Patients and Methods:

Focusing on the lung and gastrointestinal involvement as well as the poor growth, we first investigated the role of TNF-α gene in the clinical manifestation of CF. Furthermore, based on the hypothesis that the cumulative effect of specific alleles of multiple CF modifier genes, such as TNF-α, may create the final phenotype, we also investigated the potential role of TNF-α in non-classic CF patients without a known pathogenic mutation. In all, 80 CF patients and 157 healthy control subjects of Azeri Turkish ethnicity were studied by the PCR–RFLP method. The chi-square test with Yates'' correction and Fisher''s exact test were used for statistical analysis.

Results:

The allele and genotype distribution of the investigated polymorphisms, and their associated haplotypes were similar in all groups.

Conclusions:

There was no evidence that supported the association of TNF-α gene polymorphisms with non-classic CF disease or the clinical presentation of classic CF.     

Mesenchymal progenitor self-renewal deficiency leads to age-dependent osteoporosis in Sca-1/Ly-6A null mice

The cellular and molecular mechanisms that underlie age-dependent osteoporosis, the most common disease in the Western Hemisphere, are poorly understood in part due to the lack of appropriate animal models in which to study disease progression. Here, we present a model that shows many similarities to the human disease. Sca-1, well known for its expression on hematopoietic stem cells, is present on a subset of bone marrow stromal cells, which potentially include mesenchymal stem cells. Longitudinal studies showed that Sca-1(-/-) mice undergo normal bone development but with age exhibit dramatically decreased bone mass resulting in brittle bones. In vivo and in vitro analyses demonstrated that Sca-1 is required directly for the self-renewal of mesenchymal progenitors and indirectly for the regulation of osteoclast differentiation. Thus, defective mesenchymal stem or progenitor cell self-renewal may represent a previously uncharacterized mechanism of age-dependent osteoporosis in humans.