Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations.

Plants provide the oxygen required for maintenance of human life. They are essential for human life in terms of food and health. Thousands of years ago, humans explored the therapeutic power of plants and preferred to benefit from them to live healthily. According to the data of the World Health Organization (WHO), the number of plants used for therapeutic purposes is around 20,000. Since the beginning of using plants for human health, the bioactivity characteristics of the plants have been studied in laboratories. There are various bioactive components in plants, the most important of which are secondary metabolites. It is very important how and by which methods the secondary metabolites of plants are characterized as well as their isolation, proper and effective performance of their extraction process and identification of their various biological activities that might be used in alternative medicine. This review examines the usability of supplementary medical support products after the identification of bioactive characteristics of plants by means of various biochemical and molecular biological methods.

Cannabis stimulates dopamine release and activates dopaminergic reward neurons in central pathways that lead to enhanced dependence. Catechol-O-methyl transferase (COMT) inactivates amplified extraneuronally released dopamine. A functional polymorphism (COMT Val158Met) resulting in increased enzyme activity has been associated with polysubstance abuse and addiction to heroin and methamphetamine. The aim of this study was to examine the relationship between the COMT Val158Met polymorphism and use of cannabis. Fifty-five cannabis users and 75 normal controls were enrolled in this study. Polymerase chain reaction-based genotyping was used to evaluate the presence of COMT gene polymorphism. There was a difference in genotype frequencies between cannabis users and controls, including the distribution of the COMT genotypes (H/H, H/L) (P < 0.001) and alleles (H, L) (P < 0.01), when comparing the patient groups and the control individuals. However, LL genotype distribution was similar between the groups. These results suggest a significant association between COMT Val158Met polymorphism and susceptibility to cannabis dependence.

This study is the first to search the NOS gene polymorphisms in children with PNE. It was determined that eNOS gene polymorphism may not be associated with PNE, while nNOS gene polymorphism, a predominantly CC genotype, may be associated with PNE in Turkish children. Further studies with larger samples together with the detection of enuresis gene may help determine the exact role of nNOS gene polymorphism in enuresis.

Neurofibromatosis 1 is an autosomal dominant disorder. Noonan's syndrome is known to be associated with neurofibromatoses. Patients with neurofibromatosis are predisposed to developing malignant tumors. The relationship between the genetic changes in the neurofibromin gene and mechanisms associated with tumor development in neurofibromatosis has been investigated. A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. We describe a case of an infant with the overlapping features of neurofibromatosis 1 and Noonan's syndrome who presented with rhabdomyosarcoma of the urinary bladder. The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. The phenotypic and genotypic features of neurofibromatosis, Noonan's syndrome, and cases with the overlapping features of both syndromes have been reviewed. The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors.

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