Our case is an 8 years old boy in whom the skin change was found a week after birth. Initially the involvement was limited to limbs but gradually it involved whole body skin. The skin manifestations are composed of hyper and hypo pigmented patch whit in each other. Pathologic finding was compatible with DYSCHROMATOSIS universals hereditharia. This disease is a rare pigmentary disorder which is characterized with irregular hyper and hypo pigmented macula and patch in a reticular pattern. Skin manifestation can be limited to limbs or can be diffuse in all body skin. The lesions begin mostly several weeks after birth until 6 year of age.

Background and purpose: Hearing impairment as a heterogeneous disorder is the most common sensory defect. Genetic (HEREDITARY) hearing loss involves 50% of total cases and the remaining 50% are non-HEREDITARY cases caused by unknown causes. This study aimed to investigate the role of consanguineous marriage and the relationship between the type of deafness and the HEREDITARY pattern in families with more than one deaf patient in Golestan province, Iran. Materials and methods: The study population included 165 families with deaf members whose files were available in the General Welfare Department of Golestan Province. They were randomly selected during 2018-2019. Data, including number of family members with hearing loss and severity of the condition were collected by face-to-face interviews with parents. Data analysis was done in SPSS. Results: The mean age of the subjects was 27. 67± 9. 71. Female and male cases included 42. 1% and 57. 9%, respectively. In 85% of the cases, genetic factor and in 15% acquired factors were responsible for hearing loss. Among the genetic causes, 90. 9% of the population were autosomal recessive and 9. 1% were autosomal dominant. Moreover, 70% of families had consanguineous marriage and first-degree family relationship was seen in 92 families (80%). Conclusion: Genetic factor with the autosomal recessive inheritance pattern was the most common cause of hearing loss in the population studied. Increasing awareness about the consequences of consanguineous marriage and genetic counseling are indispensable in decreasing the rate of this condition.

Leber HEREDITARY Optic Neuropathy (LHON) is the commonest primary mitochondrial disease associated with bilateral optic neuropathies. It is recognized as the most frequent cause of isolated blindness in young men.Maternally-transmitted LHON pedigrees show incomplete penetrance with a male preponderance for visual loss. Age of onset is variable ranging from the first to eighth decade.Visual loss associated with LHON is characteristically subacute, central and painless. Typically visual loss occurs in isolation. Visual field defects consistent with central or cecocentral defects are typical. Colour vision dysfunction may be an early and severe feature of LHON-associated visual loss. Pupillary function is relatively preserved. Fundoscopic changes are characterized by peripapillary telangiectatic microangiopathy or circumpapillary nerve fiber layer swelling (pseudooedema) in the early stages, later followed by non-specific optic atrophy with nerve fiber layer drop out, especially in the papillomacular bundle.Although LHON is typically associated with isolated visual loss, neurological and multisystem organ involvement has been recognized in association with a multiple-sclerosis-like illness (usually in women), dystonia, myelopathy, neuropathy, severe encephalomyelopathy and cerebellar ataxia.One of three mtDNA point mutations account for up to 95% of known cases of LHON: m.3460G>A, m.11778G>A, m.14484T>C all of which occur in mitochondrial-encoded structural subunits of complex I. Younger age-atonset (less than 15 years) and mutation type appear to dictate visual outcome, patients with the m.14484T>C MTND6 mutation have a better visual prognosis with 60% attaining some visual improvement compared to only 5% of those harbouring the m.11778G>A MTND4 gene mutation.

Background: Bruxism is a parafunctional disorder. The prevalence of this rhythmic activity of rodent muscles is reported to be about %8. This disease can compromise the life quality of a person’ s general performance. The aim of this study is to gather information upon genetic factors, which contribute to the pathogenesis of the disease. Materials and Methods: All related articles published in 1966 onward from google scholar such as ISI, PubMed, Scopus and Ovid within the databases were searched using English keywords ‘ Bruxism and Genetics’ . 300 articles were found. 252 articles were removed due to content duplication and irrelevance. Results: The review of selected articles finally showed that in addition to other factors such as psychological factors, local factors, systemic factors, etc., the genetic factors also play a significant role in pathogenesis of bruxism. Among the influential genes are rs6313 polymorphism from the 5HT2A gene and rs6313 polymorphism from the HTR2A gene. Conclusion: Evidence suggests that genetic factors play an important role in the pathology and development of bruxism, however the main causing mechanism still largely remains unknown.

Back ground: Spherocytosis is a congeniful hemolytic anemia with cell membrane alteration. Anemia is varying from translation dependent anemia to silent forms. 70-80% of patients diagnosed during infancy require blood translation. Erythropoietin response to compensate for the increased red cell destruction. Tchernia et al. first reported the effectiveness of EPO treatment in infant with anemia.Case report: Patient is a male child with 2 years old that it was diagnosed from 2 due to anemia and familial History of spherocytosis in father and grandfather.Patient was treated with EPO (Enythropoitin) from 6 months ago that received eprex 2000 unit/sc/ weekly increase with this treatment hemoglobin was increased. Discussion: EPO is a glycoprotein hormone produced by the liver during fetal life and then by kidney in childhood 8 adulthood. EPO stimulates erythrsid progenitor cells. We reported an infant with severe anemia during infantile period, which treated with EPO. Without adverse effect.8 need to pack cell translation decreased.

A HEREDITARY class on a set X is a nonempty collection of subsets of X which is closed under subsets. In this paper, we present a new structure of proximity spaces by using a HEREDITARY class, called H-proximity spaces, as a generalization of Efremoviˇ, c proximity spaces, I-proximity spaces and coarse proximity spaces. Some properties of this proximity structure and generalized topology induced by it are studied.