مرتضی پورفرزام

Type 2 diabetes mellitus (T2DM) is the most common form of diabetes caused by insufficient insulin secretion, insulin resistance, or both. Considering the high prevalence of T2DM, and the role of various components in the progress of the disease, and in order to better understand some of the mechanisms of pathogenesis responsible for the progression of T2DM, this study aimed to investigate if the levels of cholesterol synthesis and absorption markers in patients with T2DM was different compared with healthy subjects. In this cross-sectional study, 150 men between 40 and 60 years of age were selected from people attending Isfahan diabetes centers and the Isfahan Endocrine and Metabolism Research Center, Isfahan, Iran. The subjects were divided into control group including 50 apparently healthy men with normal fasting blood glucose (FBG) and no history of T2DM, and 100 patients with FBG ≥ 126 mg/dl and a history of T2DM. Fasting serum and plasma samples were used to measure biochemical parameters using commercial laboratory methods, and absorption and synthesis markers of cholesterol, using gas chromatography-mass spectrometry technique. Statistical analyzes were done via SPSS software using Kolmogorov-Smirnov, independent t, and Mann-Whitney tests at the significance level of P < 0.05. There were significant differences in the biochemical and anthropometric parameters between the studied groups. Evaluation of the concentration ratio of absorption (β-sitosterol and campesterol) and synthesis (lathosterol and desmosterol) markers to cholesterol showed a significant increase in the synthesis markers, and a significant decrease in the absorption markers in the patients group compared to the control group (P < 0.05). The results of this study indicate that the rate of cholesterol synthesis is increased, and that of cholesterol absorption is decreased in a population of Iranian patients with T2DM. These findings are in accordance with data from other populations, and may indicate that the cholesterol synthesis and absorption markers may be used as surrogate markers to better understand some of the pathogenesis mechanisms involved in the development and complications of T2DM, and may help to predict, and treat its complications more effectively in the future.

Pompe is a progressive and rare disease with major form (infantile form) resulted from lack of lysosomal alpha-glucosidase enzyme. This disease inherits in an autosomal recessive form and contains spectrum of different symptoms based on the age of onset. The variety of symptoms has seen in this disease like muscle weakness, cardio pulmonary problems, disability in daily routine works, and so on.
Case Report: In this case study, we studied the characteristics of 7 established patients in Iran recognized from 8 years ago. The age range of these patients was from 6 months to 28 years.
Different diagnosis time in patients, which is important, in this study was between 6 months to 28 years, which could cause many problems in patients whom their diagnosis was delayed.

Diabetes is the 6th leading cause of death and nowadays much efforts are done to identify the influential factors in creation of diabetes. The aim of this study was to investigate the relationship between blood concentration of Chromium and Vanadium in metabolic syndrome (MetS) subjects with or without type 2 diabetes (T2D).
Blood samples from subjects digested in nitric acid. The concentration of Chromium and Vanadium in MetS group with T2D 47 patients (30 women, 17 men) and MetS group without T2D 45 patients (33women 12 men) plus normal group 35 person (23 women 12 men) were measured by Furnace Graphite Flameless Atomic Absorption instrument.
The results of Cr and V measurements in blood subjects indicated that there are significant differences between the two groups (p The results of this study indicated that the blood level of measured elements has a correlation with diabetes and metabolic syndrome. Therefore, by measuring the elements level for providing them as a supplements to prevent from the ongoing of the disease or its progress.

Organic acidurias are a heterogenous group of inherited metabolic disorders characterized by the accumulation and urinary excretion of organic acids. Delay in the detection and treatment of many of these disorders may lead to permanent brain damage or death. Accurate and early diagnosis is therefore paramount. The diagnosis of these disorders is achieved by the analysis of organic acids in the urine using gas chromatography/mass spectrometry (GC/MS). Since genetic and environmental factors and feeding habits can affect the concentration and profile of organic acids, for each population, data should be collected appropriate to that population. Such data did not exist for the Iranian population and thus, needed to be collected. 140 random urine samples were collected from healthy children in 4 age groups: term neonates (< 30 days), premature neonates, infants (1 month-2 years), and children (> 2 years). In addition, urine samples were collected from 10 children with classical symptoms of inherited metabolic disorders. After extraction and preparation of trimethylsilyl derivatives, organic acids were analyzed using GC/MS. 61 organic acids in 140 healthy urine samples were measured and the results were reported as the 2.5th-97.5th percentiles. These compounds were normal components of urine and some marker of diseases. In addition, among 10 samples collected from patients suspected of a metabolic disease, 2 patients with methyl malonic academia, 1 patient with propionic acidaemia and 1 patient with glutaric academia type 2 were identified. Urinary organic acid analysis is not currently performed in Iran and samples are sent abroad for investigation. In addition, no reference ranges for urinary organic acids in healthy Iranian children is available. This article, for the first time, reported the urinary organic acid analysis using GC/MS and reference ranges for the Iranian population. Urinary organic acids can now be analysed and results become available within the same day of patient admission in order to initialize early and targeted treatment. This study shows that metabolic disorders do exist in high proportion of patient with clinical signs and it appears that these diseases are prevalent. It also seems that methyl malonic acidemia is the most common disorder in patient with classic symptoms of organic acidemia in Iran.

Renal osteodystrophy is a common finding in patients with chronic kidney disease (CKD) requiring dialysis (stages 3-5). Increased serum activity of bone isoform alkaline phosphatase is a good marker for investigating uremic osteodystrophy in these patients. Considering the important effect of vitamin D on calcium، mineral homeostasis and parathyroid hormone (PTH)، the objective of this study was investigation of association between serum levels of PTH، 25 (OH) D3، Alkaline phosphatase (ALP)، calcium (Ca) and inorganic phosphate (Pi) in hemodialysis patients.

Ninety hemodialysis patients were included in this study. Mean age of the patients was 36. 0 ± 11. 4 years and duration of receiving dialysis was 2 months to 23 years (Mean ± SD: 80 ± 71 months). The serum levels of 25 (OH) D3، ALP، Ca and Pi and PTH were measured. Data analysis was performed using SPSS software.

Abnormal levels of serum Ca and Pi were more common in men than women (Ca: 63. 6% versus 52. 8%، Pi: 72. 7% versus 50%، in men and women respectively); but more women had abnormal serum levels of ALP، PTH and vitamin D compared to men (ALP: 75% versus 54. 5%، PTH: 97. 2% versus 94. 5%، 25(OH) D3:63. 9% versus 32. 7%، in women and men respectively). Statistical correlation between serum levels of ALP and PTH (P = 0. 0500)، PTH and hemodialysis duration (r = 0. 588، P < 0. 0005) were significant. No statistically significant correlation was observed between serum levels of PTH and other biochemical factors.

In the majority of studied patients، the serum Pi and PTH levels were out of normal ranges that indicate poor management of hyperparathyroidism and Pi in these patients. According the results of this study، the intensity of secondary hyperparathyroidism and its deleterious effects on bone tissue was more common in women than men.

Organic acidurias (or organic acidemias) are a group of inherited metabolic disorders usually caused by loss or lack of the activity of one enzyme in the catabolic pathway of amino acids، fatty acids، carbohydrates، cholesterol، biogenic amines، nucleic acids، and steroids. Accurate and early diagnosis and follow-up of these disorders are very important in prevention of permanent damage of the nervous system، mental retardation، and death. Pathological changes in normal catabolism of these compounds are usually reflected in patient''s urinary organic acid profile. These changes can be identified by analysis of urinary organic acids using gas chromatography-mass spectrometry (GC-MS). Since each disease usually has a unique profile، the disorders can be identified by this method. The analysis of urinary organic acids is not currently performed in Iran and samples are sent abroad for such evaluations. However، timely diagnosis and follow-up of these disorders requires accurate determination of normal ranges and profile of urinary organic acids in healthy populations. Genetic and environmental factors and dietary habits can affect the concentration of urinary organic acids. Therefore، data about each population has to be collected separately. The absence of such data in Iran necessitates assessments in the country.