Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. The diagnosis of this disorder can be confirmed by analysis of urine components. The present study aimed to assess the prevalence of PKU among children aged 6 months to 6 years in Sohag governorate Egypt, its relationship to malnutrition and identifying families with higher predisposition to having children with inborn errors of metabolism. One hundred children were selected from 18,000 patients seen in the pediatric neuropsychiatry clinic of Sohag University hospital over three years, between May 2008-May 2011. They were presented with clinical symptoms suggestive of probable preliminary diagnosis of PKU. Proper clinical and laboratory investigations, including ferric chloride test in urine, total protein and albumin in serum, were screened to confirm the diagnosis. PKU was diagnosed in two children cases. The diagnosed cases were suffering from mild malnutrition represented by low levels of serum albumin and total protein comparable to cases of Marasmus and kwashiorkor or other deficiencies like rickets. Screening of the newborn with special emphasis on PKU is highly recommended before discharge from the nursery for children delivered in the hospital or on first visit to the clinic for children delivered at home. Early detection would help prevent serious and permanent neurological impairment.

Leptin is an adipocyte-secreted hormone that regulates weight centrally and regulates food intake and energy metabolism which is present in breast milk and thus may be involved in body composition and differences between breast feeding (BF) and formula-fed (FF) infant. Also there's independent associated between activation of the tumor necrosis factoralpha (TNF-α) and leptin levels that suggest that TNF-α can directly induce leptin gene expression in humans. Subjects and Methods: this study included 47 infants aged (2-24 months) they were 28 male and 19 females infant, exclusive BF was present in 27 of them and the rest were FF, beside full clinical examination and anthropometric measurements (weight (wt), length, head circumference (HC), body mass index (BMI), surface area, skin fold thickness) and full blood count, cholesterol, triglyceride, High density lipoprotein (HDL-C), and low density lipoprotein (LDL-c) , .also serum leptin and TNF-α are measured. Results: BF infant showed significantly higher length /age ratio than FF. Also BF infants showed significantly higher level of serum leptin than FF (2.96ng/ml ±2.8, 1. versus 45ng/ml±1.29), in the other hand there's significant decrease in the mean level of TNF-α in the BF than FF (15.8pg/ml±1.8 versus 17.18pg/ml ±1.75). From these results, it could be concluded that the presence of cytokines and leptin in human milk suggest that the proinflammatory cytokines (TNF-α)and leptin may mediate putative differential anorectic responses of BF and FF infants.

Chronic liver disease is characterized by liver fibrosis, which may lead to cirrhosis. Conventional serum-based liver function tests do not give information on either the presence or the rate of progress of liver fibrosis. The reference diagnostic test to detect fibrosis is liver biopsy, a procedure subject to various limitations, including risk of patient injury and sampling error. Serum markers have been evaluated for the determination of fibrosis either singly or combined as a panel of markers, however diagnostic accuracy is greatest in studies using a panel together with an algorithm, which generates a predictive score. Serum marker models, especially those targeted at hepatitis C, have multiplied in spectacular fashion over the last five years, with most models regularly achieving a median area under the receiver operating characteristic curve (ROCC) of 0.80 versus liver biopsy. Five years after publication of the first major serum marker model, the first study to document clinical outcomes reported that applying the model to hepatitis C patients improved prediction of decompensated cirrhosis and survival compared to liver biopsy. An obstacle to widespread adoption of serum marker models has been the lack of uniform performance indicators, such as diagnostic odds ratios and likelihood ratios. This review highlights the most well-established noninvasive biomarkers to-date, with a particular emphasis on serum

Background: Lifestyle of Chronic obstructive pulmonary disease (COPD) is crucial to improve patients' health status, reduces hospital admissions and slow the progression of the disease. Nurses have an important role in promoting the lifestyle of COPD patients as providing the education to change and modify lifestyle. Aim: This study aimed to assess level of knowledge and lifestyle of patients with (COPD). Design: A descriptive design was conducted to achieve aim of this study. Setting: the study was carried out in chest diseases department of Beni-Sueif University hospital. Subjects: A Purposive sample of 50 patients admitted in the previous mentioned setting. Tools: I-Interview questionnaire sheet which composed of demographic characteristics, patient's knowledge regarding (COPD)-II-Miller-Smith lifestyle questionnaire to assess the lifestyle of (COPD) patients. Results: revealed that, more than three fifth of the studied patients were smokers. The majority of studied patients had low knowledge level. Eating habit, physical activity, motivation and state of mind, adherence to medication regimen and smoking habits had low adequacy level that indicate low level of lifestyle. Conclusion: There were highly statistically significant relation between lifestyle and age, gender, marital status and level of education. Recommendations: Further researches are recommended to continuing health education program should be given for COPD patients to improve their quality of life.

Breast cancer is the most common cancer and also the leading cause of cancer mortality in women worldwide. Survivin is a member of the inhibitor of apoptosis (IAP) family, which has been identified recently. Unlike other IAP proteins, survivin is generally not found in normal adult tissues but notably expressed in the most common human cancers including stomach, colorectal, lung and breast. In cancer cells, overexpression of survivin at both protein and mRNA levels is linked to genetic variant-31G/C in the survivin promoter. P53-Abs were discovered 20 years ago during the course of tumor-associated antigens screening. The discovery of p53 mutation and accumulation of p53 in human tumors shed new light on the p53 humoral response. The aim of work: investigate-31 G/C single nucleotide polymorphism (SNP)of survivin promoter in breast cancer patients .Measurement of the level of p53 antibodies in them and detecting the association between it and the polymorphism also. Patients and methods: 100 subjects were enrolled in in this study. All were women in the age between 40 and 65 (60 breast cancer cases and 40 control divided into two groups according to age: Group 1 ≤ 50 years (27.3 ± 4.87) and Group 2 > 50(24.83 ± 6.12). Results: Our study shows a significant difference in the prevalence of the survivin promoter polymorphism (-31G > C) between the case and control groups, P value (P = 0.005*). Notably, the combined prevalence of the GC and CC genotypes (GC + CC), reflecting the prevalence of the C allele, was significantly greater in the breast cancer group than in the control group (P= 0.002*) with rates of 29% and 6%, respectively. These results imply that the C allele at position-31 in the promoter region of the survivin gene increases an individual's susceptibility to breast cancer. Also, the risk of developing cancer was 4.05 times higher in patients with the GC or CC genotype (GC + CC) than in patients with the GG genotype, and this difference was statistically significant (95% CI: (1.48-11.09). Besides, in the breast cancer group, the GG genotype was present in 35 patients, whereas the GC + CC genotype was present in 25 patients. As regard the level of p53 antibodies, there was a significant difference (p=0.025) between cases (11.67±11.96) and controls (4.65 ± 0.48). But, no significant difference in the different genotypes of breast cancer patients(p=0.83). Conclusion Survivin promoter-31 G/C polymorphism is associated with the risk of developing breast cancer. C allele at position-31G/C in the promoter region of the survivin gene increases an individual's susceptibility to breast cancer. As regard the level of p53 antibodies, there was a significant difference between cases and controls. But, no significant difference in the different genotypes of breast cancer patients .The presence of p53 Abs it could be a useful marker to complement routine prognostic factors in breast cancer patients.