• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1211-1217
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• 2014

Background: Cancer in infants younger than one year of age represents a unique problem with distinct epidemiological, clinical and genetic characteristics compared with older age groups. No report is yet available from Iran regarding epidemiological and survival rate of cancers diagnosed in this age group. Materials and Methods: The population under study comprised of patients which were diagnosed and admitted to Ali-Asghar hospital between years 1996-2005. In total, 287 infants were included in the retrospective descriptive survey. Patient files were evaluated for age of patient at the time of diagnosis, sex, geographical residence, consanguinity of parents, histological diagnosis, site of cancer involvement, type of therapy, date of last follow-up and cause of death (if applicable). Results: The average age at the time of diagnosis was 7.2 months old. The most frequent malignancy was retinoblastoma (44%), followed by leukemia (19%) and neuroblastoma (10%), with five-year overall survival rates of 77.7%, 41% and 90%, respectively Parents of 40 infants (13.9%) had consanguinity relationships. Conclusions: Although we cannot make any conclusions regarding the incidence of infant cancer subtypes based on this study, survival rates for major types were similar to the developed countries, which signifies strict adherence to standards of care in Ali-Asghar hospital, the main infant cancer care centre in Iran. A Childhood Cancer Registry with high-resolution data collection and also advanced genetic testing is advocated for in-depth analysis of variation in incidence and survival.

• Journal of Pharmacopuncture
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• v.19 no.1
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• pp.7-15
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• 2016

Objectives: Malaria has been a major global health problem in recent times with increasing mortality. Current treatment methods include parasiticidal drugs and vaccinations. However, resistance among malarial parasites to the existing drugs has emerged as a significant area of concern in anti-malarial drug design. Researchers are now desperately looking for new targets to develop anti-malarials drug which is more target specific. Malarial parasites harbor a plastid-like organelle known as the 'apicoplast', which is thought to provide an exciting new outlook for the development of drugs to be used against the parasite. This review elaborates on the current state of development of novel compounds targeted againstemerging malaria parasites. Methods: The apicoplast, originates by an endosymbiotic process, contains a range of metabolic pathways and housekeeping processes that differ from the host body and thereby presents ideal strategies for anti-malarial drug therapy. Drugs are designed by targeting the unique mechanism of the apicoplasts genetic machinery. Several anabolic and catabolic processes, like fatty acid, isopenetyl diphosphate and heme synthess in this organelle, have also been targeted by drugs. Results: Apicoplasts offer exciting opportunities for the development of malarial treatment specific drugs have been found to act by disrupting this organelle's function, which wouldimpede the survival of the parasite. Conclusion: Recent advanced drugs, their modes of action, and their advantages in the treatment of malaria by using apicoplasts as a target are discussed in this review which thought to be very useful in desigining anti-malarial drugs. Targetting the genetic machinery of apicoplast shows a great advantange regarding anti-malarial drug design. Critical knowledge of these new drugs would give a healthier understanding for deciphering the mechanism of action of anti-malarial drugs when targeting apicoplasts to overcome drug resistance.

• Preventive Nutrition and Food Science
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• v.22 no.1
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• pp.16-20
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• 2017

This study investigated the antioxidant activity of functional beverage concentrates containing herbal medicine extracts (FBCH) using various antioxidant assays, such as 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging activity, 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid (ABTS) radical scavenging activity, and reducing power assay. The total polyphenolic content of FBCH (81.45 mg/100 g) was higher than Ssanghwa tea (SHT, 37.56 mg/100 g). The antioxidant activities of FBCH showed 52.92% DPPH and 55.18% ABTS radical scavenging activities at 100 mg/mL, respectively. FBCH showed significantly higher antioxidant activities compared to the SHT (DPPH, 23.43%; ABTS, 22.21%; reducing power optical density; 0.23, P<0.05). In addition, intracellular reactive oxygen species generation significantly decreased in a concentration-dependent manner following FBCH treatment. These results suggest that the addition of herbal medicine extract contributes to the improved functionality of beverage concentrates.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.931-937
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• 2007

The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however, renal function recovers in most of them. About 10% of children with HUS do not reveal preceding diarrheal illness, and is referred to as D- HUS or atypical HUS. Atypical HUS comprises a heterogeneous group of thrombomicroangiopathy (TMA) triggered by non-enteric infection, virus, drug, malignancies, transplantation, and other underlying medical condition. Emerging data indicate dysregulation of alternative complement pathway in atypical HUS, and genetic analyses have identified mutations of several regulatory genes; i.e. the fluid phase complement regulator Factor H (CFH), the integral membrane regulator membrane cofactor protein (MCP; CD46) and the serine protease Factor I (IF). The uncontrolled activation of the complement alternative pathway results in the excessive consumption of C3. Plasma exchange or plasma infusion is recommended for treatment of, and has dropped the mortality rate. However, overall prognosis is poor, and many patients succumb to end-stage renal disease. Clinical presentations, response to plasma therapy, and outcome after renal transplantation are influenced by the genotype of the complement regulators. Thrombotic thrombocytopenic purpura (TTP), another type of TMA, occurs mainly in adults as an acquired disease accompanied by fever, neurologic deficits and renal abnormalities. However, less frequent cases of congenital or hereditary TTP associated with ADAMTS-13 (a disintegrin and metalloprotease, with thrombospondin 1-like domains 13) gene mutations have been reported, also. Recent advances in molecular genetics better allow various HUS to be distinguished on the basis of their pathogenesis. The genetic analysis of HUS is important in defining the underlying etiology, predicting the genotype-related outcome and optimizing the management of the patients.

• Journal of the Korean Institute of Intelligent Systems
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• v.19 no.6
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• pp.796-801
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• 2009

In medical practice, the diagnosis or prediction models requiring complicated computations are not widely recognized due to difficulty in interpreting the course of reasoning and the complexity of computations. Medical personnel have used the nomograms which are a graphical representation for numerical relationships that enables to easily compute a complicated function without help of computation machines. It has been widely paid attention in diagnosing diseases or predicting the progress of diseases. A nomogram is constructed from a set of clinical data which contain various attributes such as symptoms, lab experiment results, therapy history, progress of diseases or identification of diseases. It is of importance to select effective ones from available attributes, sometimes along with parameters accompanying the attributes. This paper introduces a nomogram construction method that uses a naive Bayesian technique to construct a nomogram as well as a genetic algorithm to select effective attributes and parameters. The proposed method has been applied to the construction of a nomogram for a real clinical data set.

• 대한생식의학회:학술대회논문집
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• 2003.12a
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• pp.21-30
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• 2003

As a result of the technological advance provided by intracytoplasmic sperm injection (ICSI) in 1992, the evaluation and treatment of the infertile male has changed significantly. Many men who were previously thought to be irreversibly infertile have the potential to initiate their own biologic pregnancy. However, not all men having impaired semen parameter are ideal candidates for ICSI for numerous reasons including a lack of addressing the underlying problem causing the male infertility, unknown genetic consequences, and cost-effectiveness issues. In this era of ICSI, the fundamental approach to the male with suspected subfertility is unchanged and is based on a history, physical examination, and focused laboratory testing. The urologist should approach the patient with an intent to identify remediable causes of subfertility given the specific clinical situation. For instance, should a gentleman have his varicocele repaired or vasectomy reversed, or should he proceed directly with ICSI? If no factors can be improved in a timely manner, then ICSI should be considered using the available sperm. Examples of recent advances include the diagnosis and treatment of ejaculatory duct obstruction, indications and techniques for performing testis biopsy, and technique for sperm harvesting. In addition, potential genetic causes of male subfertility should be diagnosed and discussed with the patient. Cystic fibrosis gene mutation, karyotype abnormallities, and Y-chromosome microdeletions all have recently been identified as causative for male infertility in otherwise phenotypically normal men. With recently evolved diagnostic and therapeutic techniques now available for the infertile couple, even the most severe male factor problems in patients previously considered irreversibly infertile are now potentially treatable. The physician should be aware of the availability and limitations of these new and exciting reproductive technologies because they will allow him to provide timely and more effective therapy for the infertile couple. An understanding of these advances by all physicians is important as we progress into the $21^{st}$ century

• Journal of Microbiology and Biotechnology
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• v.26 no.6
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• pp.1148-1161
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• 2016

Lactobacilli are universally recognized as probiotics that are widely used in the adjuvant treatment of inflammatory diseases, such as vaginitis and enteritis. With the overuse of antibiotics in recent years, the lactobacilli in the human body are killed, which could disrupt the microecological balance in the human body and affect health adversely. In this work, cephalosporin-resistant Lactobacillus casei RL20 was obtained successfully from the feces of healthy volunteers, which possessed a stable genetic set. However, the shortage of lactic acid (72.0 g/l at 48 h) by fermentation did not meet the requirement for its use in medicine. To increase the production of lactic acid, the functional genes pfk and glk were introduced into the wild strain. A yield of 144.2 g/l lactic acid was obtained in the transgenic L. casei RL20-2 after fermentation for 48 h in 1 L of basic fermentation medium with an initial glucose concentration of 100 g/l and increasing antibacterial activity. These data suggested that L. casei RL20-2 that exhibited a high yield of lactic acid may be a potential probiotic to inhibit the spread of bacterial infectious diseases and may be used for vaginitis therapy.

• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.3
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• pp.306-315
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• 2021

Purpose: Obesity is defined as the abnormal or excessive accumulation of fat over acceptable limits. Leptin is a metabolic hormone present in the circulation in amounts proportional to fat mass. Leptin reduces food intake and increases energy expenditure, thus regulating body weight and homeostasis. Various polymorphisms are present in the leptin gene and its receptor. These polymorphisms may be associated with obesity. This study aimed to show the association of leptin (+19) AG, leptin (2548) GA, and Gln223Arg leptin receptor polymorphisms with obesity and metabolic syndrome in Turkish children aged 6-17 years, and to conduct further investigations regarding the genetic etiology of obesity. Methods: A total of 174 patients diagnosed with obesity and 150 healthy children who were treated at Tokat Gaziosmanpasa Medical School Hospital between September 2014 and March 2015 were included in this study. The ages of the children were between 6 and 17 years, and anthropometric and laboratory results were recorded. Genotyping of leptin (+19) AG, leptin (2548) GA, and leptin receptor Gln223Arg polymorphisms was performed by polymerase chain reaction. Results: An association between leptin receptor Gln223Arg gene polymorphism and obesity was detected. Conclusion: Further studies are needed to determine the role of genetic etiologies and to indicate the role of leptin signal transmission impairment in the pathogenesis of obesity. We hope that gene therapy can soon provide a solution for obesity.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.73-78
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• 2020

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.