Risk factors for suboptimal glycemic control in pediatrics with type 1 diabetes mellitus: a cross-sectional study.

The objective of this research is to analyze the influence of various factors on glycemic control in pediatrics with type 1 diabetes mellitus (T1DM). The study, a cross-sectional analysis, involved 221 T1DM patients below 18 years old who visited our clinic between 2011 and 2020, predating the COVID-19 outbreak. Out of the initial pool, 204 participants were chosen based on specific criteria. By computing odds ratios and 95% confidence intervals, we determined the correlation between these factors and achieving optimal glycemic control (HbA1c < 7.5%). Of the 204 individuals, 55.9% (113 patients) were female. The average age at diagnosis was 6.93 ± 3.9 years. Mean HbA1c (A1C) level of optimal and suboptimal groups were 6.97, 95% CI 6.84 to 7.1 and 8.86, 95% CI 8.68 to 9.03, respectively (p-value < 0.001). Fifty patients had optimal glycemic control and 154 people experienced suboptimal glycemic control during the follow-up that the prevalence of each of them was 24.51, 95% CI 18.7 to 31 and 75.49, 95% CI 68.99 to 81.22, respectively. In the assessment of risk factors associated with suboptimal glycemic control, patients aged 10-14 years had the highest likelihood of experiencing suboptimal glycemic control (crude odds ratio [COR] 3.12, 95% CI 1.04 to 9.3), followed by duration of diabetes (COR 2.85, 95% CI 1.2 to 6.8), which both were significant. By utilizing multivariable logistic regression analysis, a noteworthy finding emerged. It was revealed that patients aged 10-14 years exhibited a significant association with suboptimal glycemic control, [adjusted odds ratio (AOR) 4.85, 95% CI 1.32 to 17.7]. Additionally, a statistically significant correlation was identified between individuals with a body mass index (BMI) falling within the ≥ 95th percentile category and suboptimal glycemic control, Cramer's V = 0.21, p-value = 0.01. Our research has revealed a significant correlation between patients aged 10-14 years and obese individuals (BMI ≥ 95th) with suboptimal glycemic control. It is crucial to consider these factors as they can offer valuable insights during diagnosis, highlighting the increased risk of long-term suboptimal glycemic control.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the patient had been under the care of pediatric gastroenterologists. The patient's initial symptoms included chronic abdominal pain, constipation, and elevated liver transaminase. With the help of the pediatric gastroenterologists, cholestasis, Wilson disease, and autoimmune hepatitis were ruled out. Given that glycogen storage diseases type I and type III are the most common, we initially managed the patient with frequent feedings and a diet that included complex carbohydrates such as a corn starch supplement and a lactose restriction. Following an unfavorable growth velocity and hepatomegaly during the follow-up period, genetic analysis was conducted, which revealed a novel mutation of the phosphorylase kinase regulatory subunit beta gene- a c.C412T (P.Q138x) mutation. As the diagnosis of glycogen storage disease type IX was confirmed, the treatment regimen was altered to a high protein diet (more than 2 g/kg/day) and a low fat diet. CONCLUSION: Given the mild and varied clinical manifestations of glycogen storage disease type IX, it is possible for the diagnosis to be overlooked. It is important to consider glycogen storage disease type IX in children who present with unexplained hepatomegaly and elevated transaminase levels. Furthermore, due to the distinct management of glycogen storage disease type IX compared with glycogen storage disease type I and glycogen storage disease type III, genetic analysis is essential for an accurate diagnosis.

An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.

Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha-hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorders and discuss about the mutation and its management.

Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran.

OBJECTIVES: Maturity-onset diabetes of the young (MODY), an autosomal dominant disease, is frequently misdiagnosed as type 1 or 2 diabetes. Molecular diagnosis is essential to distinguish them. This study was done to investigate the prevalence of MODY subtypes and patients' clinical characteristics. METHODS: A total of 43 out of 230 individuals with diabetes were selected based on the age of diagnosis >6 months, family history of diabetes, absence of marked obesity, and measurable C-peptide. Next-generation and direct SANGER sequencing was performed to screen MODY-related mutations. The variants were interpreted using the Genome Aggregation Database (genomAD), Clinical Variation (ClinVar), and pathogenicity prediction tools. RESULTS: There were 23 males (53.5%), and the mean age at diabetes diagnosis was 6.7 ± 3.6 years. Sixteen heterozygote single nucleotide variations (SNVs) from 14 patients (14/230, 6%) were detected, frequently GCK (37.5%) and BLK (18.7%). Two novel variants were identified in HNF4A and ABCC8. Half of the detected variants were categorized as likely pathogenic. Most prediction tools predicted Ser28Cys in HNF4A as benign and Tyr123Phe in ABCC8 as a pathogenic SNV. Six cases (42.8%) with positive MODY SNVs had islet autoantibodies. At diagnosis, age, HbA1c, and C-peptide level were similar between SNV-positive and negative patients. CONCLUSIONS: This is the first study investigating 14 variants of MODY in Iran. The results recommend genetic screening for MODY in individuals with unusual type 1 or 2 diabetes even without family history. Treatment modifies depending on the type of patients' MODY and is associated with the quality of life.

COVID-19 in Coincidence with Transient Distal Renal Tubular Acidosis in an Infant.

Background: Post-COVID-19 nephropathies have been reported profusely in the literature with diverse pathophysiological mechanisms. To the best of our knowledge, this is the first report of transient distal (type 1) renal tubular acidosis (dRTA) in an infant with confirmed COVID-19. Case Presentation. We describe a 32-day-old female with diarrhea and fever without respiratory complaints. Her weight, height, and head circumference were normal for age. The primary lab test showed leukocytosis, neutrophilia, elevated inflammatory markers, and non-anion-gap metabolic acidosis. Real-time polymerase chain reaction (RT-PCR) and elevated SARS-CoV-2 immunoglobulin M confirmed COVID-19, while echocardiography and spiral chest computed tomography scan were normal. Intravenous fluid therapy and supportive care were initiated. Blood culture was positive for Klebsiella pneumoniae. Amikacin and cefotaxime were ordered. Although diarrhea and dehydration gradually improved, venous blood gas still showed metabolic acidosis. Due to the alkaline urine and hypokalemic-hyperchloremic metabolic acidosis, dRTA was diagnosed. Notably, the patient dramatically responded to Shohl's solution. Conclusions: Regarding the various manifestations of COVID-19, the possible association between dRTA and COVID-19 needs further investigation in children.

Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.9%). Furthermore, 106/289 patients who were referred with positive findings went through reanalysis and confirmatory tests which confirmed MPS diagnosis in 104. Among the total of 258 MPS patients, 225 were homozygous, 90 harbored novel variants, and 9 had copy number variations. MPS IV was the most common type (34.8%) followed by MPS I (22.7%) and MPS VI (22.5%). Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281C>A [p.Ser94*]), GALNS (c.319G>A [p.Ala107Thr], c.860C>T [p.Ser287Leu], c.1042A>G [p.Thr348Ala]), and IDUA (c.1A>C [p.Met1Leu], c.1598C>G [p.Pro533Arg], c.1562_1563insC [p.Gly522Argfs*50]). Our extensive patient cohort reveals the genetic and geographic landscape of MPS in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants.

Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.

BACKGROUND: Phenylketonuria (PKU) is the most common aminoacidopathy with an autosomal recessive inheritance pattern. A global PKU prevalence is estimated about 6.002 in 100,000 newborns. In Iran, the prevalence of PKU is estimated at about 1 in 4,698, and it shows an increasing trend from north (0.0015%) to south (0.02%) of the country. Untreated PKU causes mental retardation, microcephaly, and seizure. PAH gene mutations located at chromosome 12q23 are responsible for the classical type of this disease. The spectrum of PAH mutations is varied in different ethnicities and different parts of the world. The aim of this study was to investigate the frequency of PAH mutation in the Mazandaran province, which could be useful for genetic counseling and prenatal diagnosis. METHODS: A total of 66 individuals from 33 families from two provinces (9 families from Golestan and 24 families from Mazandaran) from north of Iran participated in this study. After genomic DNA extraction, PAH gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. RESULTS: Twenty-six different mutations were identified in the PAH gene in this study. Four mutations including IVS10-11 (c.1066-11G>A), c.727C>T (p.Arg243X), c.898G>T (p.Ala300Ser), and c.601C>T (p.His201Tyr) were the most common mutations with 37.48% frequency in Mazandaran province. Most frequent mutations in Golestan province were IVSI0-11 (c.1066-11G>A), c.722delG (p.Arg241fs), c.842C>T (p.Pro281Leu), and IVSII+5 (G>A) with frequency 58.57%. CONCLUSIONS: The results from the present study verify heterogeneity of the PAH gene and may help to diagnose tests for carrier detection and prenatal diagnosis of the PKU disease in Iranian population.

Optimal Frequency to Screen Celiac Disease amongst Patients with Type 1 Diabetes Mellitus: A Multicenter Study.

AIMS: Celiac disease (CD) is frequent amongst patients with type 1 diabetes mellitus (T1DM). Since there is a disagreement on the optimal interval and frequency to perform screening tests for CD among diabetic patients, this study aimed to evaluate these issues amongst patients with T1DM. METHODS: This retrospective cohort study was conducted in seven referral diabetic centers in different cities of Iran from January 2020 to January 2021. Data belonging to 106 patients who were affected by both T1DM and CD was collected. The time interval between CD diagnosis and diabetes (IBCD), the age of diabetes onset, and any associated diseases, symptoms, and family history of T1DM and CD were recorded and analyzed. RESULTS: Results show that 45% of the patients with CD were diagnosed during the first year of diabetes onset; furthermore, 18% and 16% of the patients with CD were diagnosed in the second or third year after being diagnosed with diabetes. In addition, another 18% of patients with CD were diagnosed during the fourth till the eighth year after diabetes onset. Moreover, there was a negative relationship between the age of T1DM diagnosis and IBCD. Most participants were asymptomatic at the time of CD diagnosis. CONCLUSIONS: Screening tests to detect CD amongst patients with T1DM should continue for at least eight years after the initial T1DM diagnosis, especially those affected at a younger age.

Congenital goiter in North of Iran: A case report.

Congenital goiter (CG) is one of the rarest disorders observed in a newborn at birth diagnosed with hypothyroidism. Considering the simultaneity of pregnancy and baby's hypothyroidism at birth, the goiter can be caused by diabetes during pregnancy and hypothyroidism emergence in the baby.

Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.

BACKGROUND: Congenital hyperinsulinism (CHI) is a rare and life-threatening genetic disorder. Sirolimus as a mammalian target of rapamycin inhibitor may be helpful in patients with CHI who do not respond well to other treatments including diazoxide and octreotide. However, the safety and efficacy of this therapy are still unclear. This study aimed to evaluate the potential therapeutic effects of sirolimus in CHI patients with mutations in the ABCC8 and KCNJ11 genes. METHODS: During the period of this follow-up study, every child with a confirmed diagnosis of unresponsive CHI underwent genetic evaluation. Among those who had positive genetic testing, six families agreed to participate in this study. The participants were evaluated for ABCC8, KCNJ11, or HNF4α gene mutations by polymerase chain reaction (PCR) sequencing. The participants who were unresponsive to diazoxide and octreotide therapy received 0.5 mg/m2/d of sirolimus, and the dose was gradually increased until a serum concentration of 5-15 ng/ml was achieved. Then, the participants were followed up for any possible complications. RESULTS: Among the study participants, only one neonate was completely free of hypoglycemia after one year of follow-up, whereas three others experienced a partial reduction in hypoglycemic episodes over six months. One neonate underwent pancreatectomy despite receiving sirolimus. The oldest participant with a mutation in the ABCC8 gene responded well to sirolimus therapy after surgery and remained asymptomatic for 18 months. CONCLUSION: This study suggested that sirolimus therapy needs further evaluation to determine which patients will benefit the most. The genetic basis of CHI may have possible implications for determining the patient's response.

Prevalence of autoantibodies in type 1 diabetes mellitus pediatrics in Mazandaran, North of Iran.

Objectives Type 1 diabetes is an autoimmune disease. Its most important immunologic markers are pancreatic beta-cell autoantibodies. This study aimed to determine diabetes mellitus antibodies frequency among children and adolescents with type 1 diabetes. Methods This descriptive study evaluated the frequency of four diabetes autoantibodies (glutamic acid decarboxylase 65 autoantibodies [GADA], islet cell autoantibodies [ICA], insulin autoantibodies [IAA], tyrosine phosphatase-like insulinoma antigen-2 antibodies [IA-2A]) and their serum level in children and adolescents diagnosed with type 1 diabetes mellitus at the diabetes department of Bou-Ali-Sina Hospital and Baghban Clinic, Sari, Iran, from March 2012 to March 2018. The relationship between the level of different antibodies and age, gender, and diabetes duration were determined. A two-sided p value less than 0.05 indicated statistical significance. Results One hundred forty-two eligible patient records were screened. The average age at diabetes diagnosis was 4.2 ± 4.4 years. The median duration of diabetes was 34.0 (12.7-69.7) months. 53.5% of patients were female, and 81.7% of them had at least one positive autoantibody, and ICA in 66.2%, GADA in 56.3%, IA-2A in 40.1%, and IAA in 21.8% were positive. The type of the autoantibodies and their serum level was similar between females and males but there was a higher rate of positive autoantibodies in females. The level of IA-2A and ICA were in positive and weak correlation with age at diagnosis. Conclusions More than 80% of pediatric and adolescent patients with type 1 diabetes were autoantibody-positive. ICA and GADA were the most frequently detected autoantibodies. The presence of antibodies was significantly higher in females.

Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.

BACKGROUND: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients with MPSI. METHODS: Sanger sequencing was used to measure the IDUA gene sequence in the coding region and exon-intron boundaries. We recorded the clinical findings of studied patients at the first diagnosis of disease and then during the treatment and follow-up. RESULTS: Five different missense disease-causing mutations were determined in our patient groups, indicating 90.48% of detection rate. The most widespread mutation was the p.Y109H, occurring in 15.625% of all alleles, which was reported for the first time in our study. Other frequent mutations were as follows: p.Ser157Pro (12.5%), p.Gly84Arg (12.5%), p.Asp257His (9.375%), and p.Asp301Glu (9.375%). Three ones of them were new missense mutations: p.Ser157Pro, p.Asp257His, and p.Asp301Glu. DISCUSSION: The results of this study explain the different spectrum of IDUA gene mutations in our patients with MPSI. We introduced here 32 different variants including four new variants: p.Y109H (15.625%), p.S157P (12.5%), p.D257H (9.375%), and p.D301E (9.375%). In this series, there was no relationship between the happening of clinical features and genotype variations and biochemical findings.

Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.

BACKGROUND: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation of untreated patients is severe mental retardation. The PAH gene, that is 90 kb long, is consisted of 13 exons and 12 introns. The aim of the present study was to identify the frequency of five common mutations on PAH gene among patients with PKU in Mazandaran and Golestan provinces including c.1066-11G>A, p. R261Q, p. R252W, p. R261X, and c.1200 + 1G>C. METHODS: Forty unrelated PKU patients, that 22 of them, were from Mazandaran and 18 of them from Golestan provinces were enrolled in the study. Genomic DNA was extracted from leukocytes using Qiagen DNA extraction kit and polymerase chain reaction - restriction fragment length polymorphism method was applied to detect five common mutations. RESULTS: Three out of the 5 investigate mutations were identified among the patients. The c.1066-11G>A mutation has the highest frequency (27.5%) among the patients and the frequency of p. R261Q and p. R261X mutations were 3.75 and 1.25%, respectively. In Golestan province, only c.1066-11G>A mutation was observed in investigated alleles. CONCLUSIONS: The high frequency of c.1066-11G>A mutation in Golestan province may be related to genetic drift, founder effect, and consanguinity.

Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).

BACKGROUND: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran. METHODS: In this descriptive-retrospective study from 2007 to 2015, neonates PKU level was conducted by phenylalanine level based on a biochemical technique by ELISA and then by confirmatory methods high performance liquid chromatography. RESULTS: Of the 407,244 screened newborns (48.7% girls and 51.3% boys), 14 girls and 13 boys were diagnosed definitely from 465 suspicious cases of PKU. The incidence of PKU was 0.66 in 10,000, which was noted in different severity (severe PKU - 1:67,874, mild PKU - 1:45,249, and HPA - 1:33,937). In addition, we did not detect any cases of nonclassic PKU. CONCLUSIONS: Although the consanguineous marriage pattern is a major cause of hyperphenylalaninemia (HPA) particularly in Iranian, there was no significant difference between groups in this study. Now, screening should be executed for all of the family that they have the familial history of PKU in Iran. According to varies actual of prevalence and incidence rate of PKU reported a real patient and taking PKU with mild PKU and HPA, it is recommended, the will provide the PKU reports based on the severity of the disease.

The Prevalence of Allergic Rhinitis, Eczema and Asthma in Students of Guidance Schools in Mazandaran Province, Iran.

BACKGROUND: Eczema, allergic rhinitis and asthma are common chronic allergic disorders in childhood. AIM: The aim of this study was to determine the prevalence of common allergic disorders among Iranian guidance schools students in Mazandaran Province, northern Iran. METHODS: This analytical cross-sectional study was performed on 3000 children aged 11-14 years old during 2012-13 according to ISAAC study. Of 3000 recruited children 1576 (52.54%) were female and 1424 (47.46%) were male. Data gathered by ISAAC first phase questionnaire analysed by SPSS software 20. RESULTS: The prevalence of wheezing, allergic rhinitis symptoms (sneezing and pruritus) and atopic dermatitis symptoms (pruritus skin lesion) were 30.5%, 30% and 15% respectively. History of pets contact and smoking was positive 6.6% and 36 % respectively. About 52% was born with caesarian section. There was wheezing in 32.5% during sport. The diagnosis of asthma, allergic rhinitis and eczema were 12.2%, 28.5% and 15% respectively. Eczema, asthma and allergic rhinitis were significantly more common in boys students (p < 0.05). CONCLUSIONS: The results of this study showed that asthma, allergic rhinitis and eczema have a high prevalence and they are more common in boys.

Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.

BACKGROUND: The human chitinase chitotriosidase enzyme, which is encoded by the CHIT1 gene, is produced by macrophages, and may be important in immune responses to chitin-containing organisms, such as fungi. Plasma chitotriosidase activity is used to diagnose and monitor some forms of lysosomal storage disorders, such as Gaucher's and Niemann-Pick disease. However, homozygous duplication of a 24-bp region in exon 10 of the CHIT1 gene eliminates enzyme activity and may complicate disease monitoring. The high prevalence of this mutation highlights the need to determine its frequency in different populations and screen patients for this mutation to verify whether chitotriosidase activity is a reliable marker of lysosomal storage disease. This study investigated the allele frequency of the 24-bp duplication in the general Iranian population. METHODS: To identify the 24-bp duplication in exon 10 of the CHIT1 gene (H allele), genotyping of DNA extracted from peripheral blood leukocytes of 577 healthy Iranians was performed using polymerase chain reaction (PCR) amplification and high resolution melting (HRM) PCR techniques. RESULTS: In this study, heterozygous and homozygous duplications were detected in 183 (31.7%) and 35 (6.1%) subjects, respectively. In addition, the allelic frequency was 21.9% (95% confidence interval). CONCLUSION: Our study indicates that genotype analysis by HRM-PCR is a fast, reliable, and highly accurate screening approach for identifying the 24-bp duplication in CHIT1 exon 10. Due to the wide range of duplication frequencies among different ethnic groups, new biomarkers are necessary for assessing genetic characteristics of lysosomal storage disorders in different populations.

Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran.

Methods for assaying lysosomal diseases in dried blood samples are very useful today due to its several advantages related to the stability of samples, its transportation, handled and analysis, and its potential use for newborn screening compared to traditional methods in leucocytes samples. For this reason, it is important to validate these assays before being used in routine laboratory. Because of different in biological markers based on ethnicity, we aimed this study to validation a DBS-based fluorometric assay for measurement of α-l-Iduronidase activity for diagnosis of MPS I patients in Iran. DBS samples were collected from 15 MPS I patients and 60 healthy age matched subjects. Diagnostic value, biological variance and α-l-Iduronidase activity were determined. DBS α-l-Iduronidase activity was significantly higher in male subjects than in female group. Using a cut-off level of 1.08 µmol/spot 20 h, sensitivity and specificity were 100 and 98 %. The linearity of test was proved and we showed that within-run and between run precision were 5.6 and 14.66 %. Measurement of α-l-Iduronidase activity in DBS samples is an accurate test for diagnosis of MPS I and because of its rapid shipping and simplicity to keeping, DBS-based enzyme activity could be considered as a useful diagnostic tool in this disease.

Studying the rate and causes of discharge against medical advice in hospitals affiliated to mazandaran university of medical sciences.

INTRODUCTION: Discharge against medical advice from the hospital is an important issue from point of view of treatment management, health costs as well as the side effects of treatment stop on patients and their accompanying. Therefore, health managers and planners should consider the predisposing factors that change patient's mind in this regard. Since, there has been no study to carefully assess the rate and causes of self-discharge in this province, so this study is aimed to fill this gap. METHODS AND MATERIALS: This descriptive and cross-sectional study was carried out in 6 months period, from 23 July 2010 till 20 January 2011 in all public hospitals of Mazandaran province. A form was set out for data collection and those patients willing to self-discharge were asked to participate in the study. Patients' demographic information was filled using their medical record and by the help of department personnel. Furthermore, the form was completed by parents for patients over 18 year-old or by the help of first-rank relative for those having psychiatric disorders or anybody who wasn't able to complete the form. In order to identify the causes of self-discharge, 18 variables were determined which were categorized in three general items and five main groups. Data were entered into the SPSS15 and were analyzed using descriptive statistics indices. RESULTS: According to the results, 94441 were discharged from the university hospitals which 7967 patients (8.4 %) of them were self-discharged during the 6 month study period. Regarding admission type, 269 (3.3 %), (54.5 %) were admitted into the hospital by pre-determined appointment and as usual patients, respectively, and the rest were admitted by emergency department. Also, 31.4%(2504) were hospitalized in surgery ward, 63% (5026) in medical ward, 4.6% (374) in intensive care unit (ICU) and the rest were hospitalized in the psychiatric ward. The most important reasons for self-discharge were related to: 1-factors affecting patient illness (54.3%), 2-environmental issues as well as patients' accompanying (37.6%) and 3-managerial and medical reasons(7.9%), respectively. CONCLUSION: Our study showed the same results for Discharge against medical advice rate as the others. From the view point of treatment management, its causes should be considered and practices should be done to improve the conditions. Meanwhile, the current self-discharge form doesn't reflect the causes of the problem and it should be revised.

Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics.

OBJECTIVE: The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. The most reliable test for measurement of urine glycosaminoglycans is the 1,9-dimethyleneblue colorimetric assay. Biological markers are affected by ethnical factors, for this reason, the World Health Organization recommends that the diagnostic test characteristics should be used to determine results for different populations. This study determines the diagnostic value of 1,9-dimethyleneblue tests for diagnosis of mucopolysaccharidosis type I patients in Iran. MATERIALS & METHODS: In addition to routine urine analysis, the qualitative and quantitative measurements of urine glucosaminoglycans were performed with the Berry spot test and 1,9-dimethyleneblue assay. Diagnostic values of the tests were determined using the ROC curve. RESULTS: Urine total glycosaminoglycans were significantly higher in male subjects than in female subjects. Glycosaminoglycan concentration was markedly decreased in specimens with elevated white blood cell and epithelial cells count. Using a cut-off level of 10.37 mg/g creatinine, sensitivity, and specificity were 100% and 97.22%, respectively, for a 1,9-dimethyleneblue colorimetric assay. CONCLUSION: Urine glycosaminoglycans concentration significantly differs in our studied population. In addition to determine diagnostic validity of the 1,9-dimethyleneblue test, our results demonstrate the usefulness of measuring glycosaminoglycans for early screening of mucopolysaccharidosis type I Iran.

Short-term and long-term outcome of hemolytic uremic syndrome in Iranian children.

BACKGROUND: Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure during infancy. Many symptoms and clinical features have been proposed as prognostic factors for HUS in the short and long term, while the results of different studies have often been controversial. The aim of this study was to evaluate short-term and long-term outcomes of HUS in Iranian children. METHODS: Medical records of all 92 children suffering from HUS admitted to the pediatrics nephrology ward at Ali-Asghar Children Hospital in Tehran, Iran, from 1990 to 2004, were retrospectively reviewed. RESULTS: Out of 92 children, mortality was observed in 18 patients (19.6%) during the acute phase of the disease. Significant correlation between mortality and seizures, coma and hypertension in the acute phase was found (p<0.05). No association was observed between type of treatment and mortality (p>0.05). In the long-term, the presence of hypertension in the acute phase of the disease (p=0.023; relative risk [RR] = 3.89; 95% confidence interval [95% CI], 1.01-13.76), hypertension at discharge time (p<0.001; RR=10; 95% CI, 2.44-40.91) and need for dialysis (p=0.021; RR=1.38; 95% CI, 1.13-1.70) were shown to be significant risk factors for future hypertension in HUS patients. CONCLUSION: Central nervous system involvement is associated with mortality in the acute phase of HUS, whereas the severity of disease in the admission phase is related to occurrence of hypertension in future.