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Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding neurofibromin protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with neurofibromatosis type 1 have been characterized from clinical symptoms such as presence of café au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented.

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Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type-1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years.

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Background and Objective: Single Nucleotide Polymorphisms in programmed cell death which expressed at high level in T cells, plays an important role in the development and cause autoimmune disorders. This study was done to evaluate the frequncy of rs11568821 polymorphism in patients with systemic lupus erythematosus (SLE).
Methods: This case-control study was done on 76 patients with SLE and 56 healthy controls. After DNA extraction, frequncy of polymorphisms PDCD1.3 by polymerase chain reaction and sequencing methods in subjects were determined.
Results: There was a significant diference between frequency of allele and genotype at rs11568821 Polymorphism in region of intron 4 of PDCD1.3 gene in case and control groups (P<0.05). A allele and AG genotype was significantly higher in patients than healthy controls (9.5% vs 0.09%, P<0.05). There was no significant association between clinical and laboratory findings with genotype frequencies.
Conclusion: rs11568821 single nucleotide polymorphism in intron 4 gene region PDCD1 can be used as a genetic factor to be involved the SLE susceptibility.

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Autosomal recessive primary microcephaly; MCPH is a rare neurologically condition observed in new born at the birth. Most patients suffer from moderate to severe intellectual disability. In this review article, we introduce MCPH disorder; include all of the chromosomal locations, kind of MCPH genes and numbers of mutations, functional efficacy, how to identify the genes separately and diagnostic algorithm of articles and data base such as OMIM, HGMD. 23 locations genes (MCPH1-23) have been recognized causes primary microcephaly in different population, so far. Function of them is to correct orientation of mitosis spindles, duplication of DNA, organization and function of centrosome, transfer of vesicles, transcription regulation, response to DNA lesion, etc. According to investigations, MCPH in Iran and Pakistan population is common because of more consanguinity marriage. MCPH1 and MCPH5 genes are more common in Iran. Recent advances in molecular biological techniques and animal models have helped to identify the genetic cause of microcephaly and open up the horizons for researchers in the field, and also elucidating of the underlying molecular mechanisms will improve our understanding of the structure and function of the brain.

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Background and Objective: Exercise-induced muscle hypertrophy occurs through increased rate of muscle protein synthesis that is regulated via molecular signaling pathways. The mammalian target of rapamycin (mTOR) pathway is believed to play a major role, via phosphorylation of the ribosomal protein S6 kinase of 70 kDa (p70S6K). Results concerning the effect of concurrent training on these factors have been contradictory. This study was done to determine the effect of 8 weeks of resistance training and concurrent resistance and aerobic training on phospho-mTOR (p-mTOR) and phospho-p70S6K (p-p70S6K) responses in skeletal muscle in rats.
Methods: In this experimental study, 24 wistar rats (age: 8 weeks) were randomly allocated into resistance training (n=8), concurrent training (n=8), and control (n=8) groups in equal laboratorial condition. Resistance group performed 5 sessions per week consisted of 10 repetitions ladder climbing with load suspended from the tail between 30-80% individual maximum overload test that was weekly performed to adjust the individual load throughout the week. The concurrent group performed resistance training followed by 5 minutes rest and endurance training consisted of treadmills run, that speed and duration of running gradually increased during training period, from 9 m/min and 10 minutes in the first week to 30 m/min and 60 minutes in the last week. The flexor hallucis longus (FHL) muscle of rats were removed under sterile condition at 24 hours after the last session of training and the proteins levels of p-mTOR and p-p70S6K were measured by ELISA method.
Results: The level of p-mTOR was significantly greater in resistance training and concurrent training groups in compared to control group. No significant difference was observed between training groups. However, the significant increase of p-p70S6K was observed only in resistance group in compared to control group.
Conclusion: Because of the increased of p-mTOR in concurrent group was not accompanied by increase of p-p70S6K compared with resistance group, thus concurrent training probably attenuate signaling responses of downstream targets of mTOR.

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Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems. Neurofibromatosis type 1 (NF1), along with neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), are the three main types of NF. As the most common form, NF1 is characterized by neurofibromas and Cafe-au-lait macules (CALMs) in early childhood. Neurofibromatosis type 1 is caused by mutations in the NF1 gene, which codes for neurofibromin, and mutations in NF2 and SMARCB1 gene lead to neurofibromatosis type 2 and schwannomatosis, respectively. In addition, most patients with neurofibromatosis type 2 have vestibular schwannoma, also associated with hearing problems and body imbalance. Recently, schwannomatosis has been proposed as a distinct genetic disorder because it shares many symptoms with neurofibromatosis types one and two, characterized by benign schwannoma around nerves. NF1 and NF2 may show symptoms in childhood, but schwannomatosis is often diagnosed in people in their thirties or older. This article reviews the latest scientific literature according to the keywords of neurofibromatosis, pathogenesis, treatment, NF1, and NF2 in Google Scholar, PubMed, and Web of Science online databases on the types of neurofibromatosis, molecular pathways, diagnostic criteria, clinical symptoms, condition management, treatments and drugs under development.

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According to the US Centers for Disease Control and Prevention (CDC) definition, genetic counseling is a process in which information is presented about how genetic conditions affect a patient or his/her family. A genetic counselor collects a patient’s personal and family health history to promote the family’s awareness and perception of specific genetic diseases, testing risks and advantages, disease management, and assessment of available therapeutic options. Intellectual disability (ID) and deafness are two common disabilities with considerable impacts on the quality of life of patients and their families. The present research has investigated the role of genetic counseling in the screening and prevention of deafness and ID based on the studies published in the Web of Science, PubMed, and Google Scholar databases between 2015 and 2023. Genetic counseling can be employed as an influential tool in screening, early diagnosis, and prevention of ID and deafness. Considering that many cases of ID and deafness are rooted in individual genetics, genetic counseling can help lessen the risk factors of developing these disabilities and improve the quality of individual and family life. The effect of genetic counseling, as an influential tool, on screening, early diagnosis, and prevention of ID and hearing loss is also assessed.