May 9, 2023

Human height is determined by genetics and “supply of inputs to health” (Steckel, 1995) [1]. In most econometric investigations, mean height of young adults is regressed against average supply(- consumption) of essential nutrients, such as animal protein, in the final stage of human growth, say the late-adolescents (Baten, 2009; Beer, 2012; Grasgruber et al.,2016; etc.) [2-4]. A number of human biologists refer to the importance of “the first years of life”, including the gestation period (Cole, 2003; Deaton, 2007; also many pediatricians)[5, 6]. A recent human biology study con cludes, “most of the height increment seen in adults had already accrued to the age 1.5 years” (Cole and Mori, 2017) [7]. The A/P/C approach contains cohort elements which cover the supply of in puts to health from birth to the current years of investigation on top of elements of age and period. This study analyzes a series of mean height surveys by age, male and female, provided by CNSSCH [8], Chinese government, 1985 through 2019, by five-year inter vals. There are two models at hand, Bayesian(Nakamura, 1986) [9] and IT(Yang Y. et al., 2008) [10]1. 1 For the past decades, the author has employed these two models in running cohort analyses of consumption of various food prod ucts with technical advice from mathematical statisticians (Clason; Saegusa). He is in no position to assert which model is superior. Whenever he had problems in running the programs, Clason and Saegusa have assisted him, in upgrading or refining the Bayesian programs [11, 12].

1.1. Background: Stroke-like migraine attacks after radiation therapy [SMART] syndrome is a rare and delayed complication of radiation therapy to the brain. Less than 100 cases have been de scribed in literature since it was first reported in 1995. On average, presentation is about more than 20 years after radiotherapy and pa tient normally present with stroke-like deficits, epileptic seizures and migraine. MRI is characteristic for unilateral and mainly pari eto-occipital cortical hyperintensities and gyriform enhancement. The importance of characterizing this syndrome for prompt recog nition and diagnosis is essential to avoid unnecessary biopsies and provide reassurance to the patient. 1.2. Case Description: We describe a 49-years-old female treated with craniospinal radiation for a IV ventricle tumor. 29 years later she was admitted in our hospital presenting migraine-like attacks, behavioral changes, bilateral loss of vision, seizures, confusion and gait instability. 1.3. Conclusions: As the global cancer survival rates improved considerably during last decades, long-term side effects of com plementary treatment as radiotherapy are likely to be more oftenly observed. SMART syndrome represents a characterizable and a distinguishable entity which can be differentiated from tumor re currence. The knowledge and awareness of this syndrome would substantially avoid unnecessary aggressive investigations and would significantly improve patient expectation and management.

1.1. Objectives: Hearing loss, the second most frequent sensori neural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The re ceptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger se quencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures. 1.3. Results: WES analysis showed a novel mutation in FGFR1 (NM 023110: exon18:c.G2313A:p.M771I) in the case. Her par ents’ Sanger sequencing revealed heterozygosity in her father and homozygosity of the normal allele in her mother. In silico inves tigations revealed no significant differences in pathogenic effects. 1.4. Conclusion: Altogether, our findings revealed no pathogen ic effect of the new mutation (M771I) of the FGFR1 gene in an Iranian 30-year-old woman. Because of hearing loss importance in preclinical diagnosis, this benign variant could help with the FGFR1 role on hearing loss in future pregnancies.

1.1. Introduction: The management of open tibial fractures re mains a challenge for the orthopedic surgeons as various post-op erative complications are associated with external fixation of tibia fracture. 1.2. Objectives: To determine frequency of pin track infection among patients with tibia fracture treated with AO external fixator. 1.3. Material and Methods: This Descriptive case series study was carried out Department of Orthopedics, Medical Teaching In stitute Lady Reading Hospital from February , 2022 till December, 2022 on 110 Patients, aged 20 to 60 years of either gender with open fracture tibia Gustillo-Anderson type II or type IIIA were enrolled using non-probability consecutive sampling technique. All patients with tibia fracture underwent AO external fixation and reduction. Frequency of pin tract infection was noted. Data was entered and analyzed using SPSS 22. 1.4. Results: In our study 110 patients were enrolled with mean age of 36.7±11.5 years. There were 56.4% males and 43.6% fe male patients. Mean duration of injury was 14.6±7.6 hours. Hy pertension was present in 30.9% patients. Diabetes was present in 16.4% patients. Smoking was present in 36.4% patients. Obesity was present in 41.6% patients. Pin tract infection was present in 16.4% patients. 1.5. Conclusion: Our study concludes that the incidence of pin tract infection is high.

1.1. Background: Previous studies reported the association of the OPRK1 gene with illicit substances, nicotine, and alcohol. The present study aimed to look at the methylation levels of OPRK1 gene promoter among smokers and addicts who underwent metha done maintenance treatment (MMT). 1.2. Methods: DNAs were extracted from the whole blood of all male samples including 30 smokers, 30 opium-addicted individu als undergoing methadone treatment, and 30 healthy people, and they were treated with a sodium bisulfite kit. The studied region included 53 CpG dinucleotides investigated by sequencing tech nique. 1.3. Results: Results of methylation levels in addicted individuals who underwent MMT compared with healthy people showed no difference. Also, there was no change in any CpG sites of OPRK1 gene promoter in both smokers and compared healthy controls. There was a significant difference in the mean age between opi um-dependent people and healthy controls (P=0.017). According to the findings of the statistical analysis, resident situation and li bido dysfunction were associated with methadone dose (P=0.032 and P=0.003, respectively). 1.4. Conclusion: Altogether, the study of methylation levels at OPRK1 gene promoter was not significant among smokers and in dividuals who underwent MMT compared to the healthy controls; additionally, methadone dosage had significant associations with demographical statuses in the MMT group.

1.1. Background: Previous studies have demonstrated that the COMT gene is associated with alcohol, nicotine, and illicit sub stances. The aim of the present study was to examine the methyla tion status of a remarkable region in the COMT gene promoter in methadone-treated smokers and addicts. Methods: All male sam ples, including 30 smokers, 30 opium addicts receiving methadone treatment, and 30 healthy individuals, had their DNAs extracted from their whole blood and processed with a sodium bisulfite kit. 61 CpG dinucleotides were included in the study region and were sequenced. 1.2. Results: Results represented that within these CpG sites, only 25 CpG sites in the addicted group and 22 in the smoker group compared to the healthy controls indicated different methylation levels; however, none of these CpG sites had a statistically signif icant difference (P=0.281 and P= 0.329, respectively). The mean age of opium-addicted individuals and healthy controls had signif icant differences between the two groups (P=0.017). Demograph ical results revealed that methadone dosage correlated with the resident situation and libido dysfunction (P=0.032 and P=0.003, respectively). 1.3. Conclusion: In conclusion, the investigation of methylation levels at COMT gene promoter had no noticeable significance among smokers and methadone maintenance treatment (MMT) patients compared to the healthy controls; moreover, methadone dosage had significant correlations with demographical statuses in the MMT group.

1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoen cephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which hap pens frequently even among family members, increases the com plexity of diagnosis. 1.2. Methods: In vitro analysis was carried out by Whole Exome Sequencing (WES) for a 2-year-old boy. He had ataxia, develop mental delay, delayed speech and language development, and au tistic behaviors. Mutational confirmations were also done on both of his parents to find the genotypes. Also, bioinformatics predic tions were performed by SWISS-MODEL, ProSA, Molprobity, and superimposition through MatchMaker in Chimera ver. 1.16. 1.3. Results: WES analysis uncovered a novel de novo missense mutation in the HTRA1 gene (exon1:c.320C>T:p.A107V) in the case. Mutation conformations documented the homozygosity of the normal allele in both of the case’s parents. Superimposition predictions suggested two beta-sheet unfolded in the mutant model (T allele or Val107). 1.4. Conclusion: Consequently, in an autosomal dominant pattern of genetic inheritance, the current study described a novel de novo mutation in the HTRA1 gene (A107V) associated with neurologi cal features such as painful ataxia, and developmental and speech delays. Pain management is necessary in this case and future cases with the same symptoms.

1.1. Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on a 30-year-old woman who sent to a genetic laboratory for PND. Her spouse had clear seri ous vision problems. To determine the genotypes, both her spouse and her husband’s sister underwent mutation confirmation tests. In silico predictions were also conducted using SWISS-MODEL, ProSA, Molprobity, and SuperPose. 1.3. Results: WES analysis revealed a new frameshift of the PAX6 gene [exon5:c.11delG:p.S4fs] and a missense mutation in the EYA1 gene [exon14:c.C1309T:p.R437C] in a 30-year-old wom an. Mutation conformations represented the heterozygosity for the PAX6 mutation in both the husband and his sister. Further in silico predictions showed a distinct deleted part of PAX6 resulted from the frameshift mutation compared with the normal allele. 1.4. Conclusion: Altogether, for the first time, our report intro duced two new mutations in the PAX6 and EYA1 genes associated with severe signs of anterior segmental dysgenesis with cataract and corneal dystrophy in an Iranian family based on an autosomal dominant pattern of genetic inheritance.

Bacteremia due to S.Rubidaea is rarely described comparing with other species of Enterobacteriacae. It interests immunocompro mised patients undergoing invasive procedures. Herein, we report four cases of bacteraemia due to this pathogen in patients admitted in ICU for ketoacidosis with history of diabetes mellitus.Common ly, a catheter-related infection complicated with deep vein throm bosis was present. Catheter site was femoral in all four cases. All patients were female. Commonly, a poorly-tolerated fever was the main clinical manifestation. The pathogen was isolated in several peripheral blood cultures (>4) for the same patient with the same profile in all four cases.