Serum ischemia modified albumin is a possible new marker of oxidative stress in phenylketonuria.

The role of oxidative stress in the pathogenesis of phenylketonuria (PKU)-associated disorders has been implicated. Ischemia modified albumin (IMA) is a modified form of serum albumin, which is produced under the conditions of oxidative stress. The aim of this study was to measure the serum level of IMA in the PKU patients and to investigate its ability in predicting the status of oxidative stress in these patients. Fifty treated-PKU patients and fifty age- and sex-matched healthy subjects were included in the study. The blood samples were obtained and the serum level of phenylalanine (Phe) was measured using reverse phase HPLC method. The levels of IMA, malondialdehyde (MDA), gamma-glutamyl transferase (GGT) activity, and uric acid (UA) were determined using colorimetric methods. The levels of serum Phe, IMA, and MDA were significantly higher (p < 0.001) and the level of UA (p < 0.05) was lower in the PKU patients compared to control group. Serum IMA level was positively correlated with MDA (r = 0.585, p < 0.001) and UA (r = 0.6, p < 0.001). An inverse relationship was observed between the serum level of IMA and Phe (r = - 0.410, p < 0. 01). Results of the present study suggest that serum IMA level could be used as a novel marker for the evaluation of oxidative stress in the PKU patients.

Cost-utility analysis of neonatal screening program, shiraz university of medical sciences, shiraz, iran, 2010.

OBJECTIVE: The most important cause of infant mortality during the first month of life is related to congenital abnormalities. Nevertheless, timely diagnosis of these diseases can reduce the severity of their effects. The present study aimed to investigate the cost-effectiveness of the neonatal screening program in Fars Province, Iran. METHODS: In this study, costs of executing the screening programs, treatment of the diagnosed cases, treatment of affected, non-screened individuals, quality of life, and incremental cost-effectiveness ratios were measured in two study groups. FINDINGS: Performing the screening programs for phenylketonuria, congenital hypothyroidism, galactosemia, and favism resulted in respectively $3386, $13078, $19641, and $1088 saving per patient. Overall, the study results revealed the cost-effectiveness of execution of the neonatal screening program. CONCLUSION: Neonatal screening program is one of the health interventions which lead to long-term beneficial outcome for the patients, financial saving for the society, and improvement of the patients' quantity as well as quality of life.

Paratesticular spindle cell rhabdomyosarcoma diagnosed by fine needle aspiration cytology: a case report.

BACKGROUND: Spindle cell rhabdomyosarcoma is a rare, newly identified subtype ofembryonal rhabdomyosarcoma with improved behavior and a predilection for the paratesticular area. Fine needle aspiration (FNA) cytology findings of embryonal rhabdomyosarcoma have been described. However, there is no previous report on the cytologic findings of spindle cell rhabdomyosarcoma at testicular or extratesticular sites. CASE: A 13-year-old boy presented with a large, right sided scrotal mass. Fine needle aspiration (FNA) was performed for rapid diagnosis. The smears revealed numerous spindle cells and large fragments of cytoplasmic processes with cross-striations and were diagnosed as spindle cell rhabdomyosarcoma. The histologic sections were also diagnosed as spindle cell rhabdomyosarcoma. CONCLUSION: The cytologic findings of this rare tumor have not been reported before. The cross-striations were easily identified in FNA smears, so the diagnosis of spindle cell rhabdomyosarcoma was made confidently. The histologic sections showed only spindle cells with different patterns of arrangement, resembling leiomyosarcoma. The cross-striations were not identified in the histologic sections. In this case cytologic diagnosis aided the histologic diagnosis.