Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.

Maple syrup urine disease is the primary aminoacidopathy affecting branched-chain amino acid (BCAA) metabolism. The disease is mainly caused by the deficiency of an enzyme named branched-chained α-keto acid dehydrogenase (BCKD), which consist of four subunits (E1α, E1ß, E2, and E3), and encoded by BCKDHA, BCKDHB, DBT, and DLD gene respectively. BCKD is the main enzyme in the catabolism pathway of BCAAs. Hight rate of autosomal recessive disorders is expected from consanguineous populations like Iran. In this study, we selected two sets of STR markers linked to the four genes, that mutation in which can result in MSUD disease. The patients who had a homozygous haplotype for selected markers of the genes were sequenced. In current survey, we summarized our recent molecular genetic findings to illustrate the mutation spectrum of MSUD in our country. Ten novel mutations including c.484 A > G, c.834_836dup CAC, c.357del T, and c. (343 + 1_344-1) _ (742 + 1_743-1)del in BCKDHB, c.355-356 ins 7 nt ACAAGGA, and c.703del T in BCKDHA, and c.363delCT/c.1238 T > C, c. (433 + 1_434-1) _ (939 + 1_940-1)del, c.1174 A > C, and c.85_86ins AACG have been found in DBT gene. Additionally, structural models of MSUD mutations have been performed to predict the pathogenicity of the newly identified variants.

Molecular analysis of testis biopsy and semen pellet as complementary methods with histopathological analysis of testis in non-obstructive azoospermia.

PURPOSE: Non-obstructive azoospermia (NOA) is one the many causes of male infertility (10 %) resulting from testicular failure. Multiple testicular biopsies fail to find mature sperm in at least 50 % of cases Therefore; hunting for sensitive and specific biomarkers of spermatogenesis that could better determine the fertility status in NOA can lead to improved management of male infertility. Therefore, we evaluated sperm production through analyses of germ cell-specific transcripts (DAZ, TSPY1, SPTRX3 and SPTRX1) in semen and testicular biopsies of men with azoospermia. METHODS: We collected semen (N=83) and testis biopsies (N=31) from men with non-obstructive azoospermia. We later extracted RNA and synthesized cDNA using washed semen precipitate and testicular tissues. We also performed semi-nested PCR with designed specific primers. Using H&E method, an expert pathologist performed the histopathological evaluation. Having categorized the patients into three groups based on histopathological results, we calculated the agreement between molecular results of semen and tissues with histopathological findings for each patient using Kappa statistical test. RESULTS: Molecular findings of precipitated semen and testicular tissues were in disagreement with histopathological results in most cases. Molecular analysis of testis biopsies showed significant difference (Kappa coefficient=0.009, P value=0.894) with histopathological results; TSPY1, DAZ, SPTRX3 and SPTRX1 were respectively detected in 94 %, 94 %, 17.6 % and 52.9 % of men diagnosed with germ cell aplasia. CONCLUSIONS: Molecular analysis of semen does not provide sufficient sensitivity and specificity to be used as a screening test at the present time, but it is a useful adjunct to histopathological methods in men with NOA. Spermatid/sperm specific transcripts indicated the possibility to find mature sperm following repeated multiple testicular sperm extraction (TESE) or microdisection TESE (mTESE).

Pre- and Post-surgical Prevalence of Thiamine Deficiency in Patients Undergoing Bariatric Surgery: a Systematic Review and Meta-analysis.

Thiamine deficiency is a life-threatening nutritional abnormality observed in the patients with obesity and following bariatric surgery. The aim of the present study is to determine the prevalence of thiamine deficiency prior to and after bariatric procedures. PubMed, Web of Science, Google scholar, CENTRAL, ProQuest, and Scopus were searched to retrieve relevant studies containing data on thiamine deficiency in patients with obesity who underwent bariatric surgery. A proportional meta-analysis approach was used to pool the prevalence of thiamine deficiency prior and after surgery. Our comprehensive literature search retrieved 41 studies with relevant data. The pooled prevalence of thiamine deficiency was 7% (95% CI: 4-12%) at baseline. We observed that 19% (95% CI: 0-68%), 9% (95% CI: 3-17%), and 6% (95% CI: 3-9%) of patients had developed thiamine deficiency at 3 months, 6 months, and 1 year after surgery, respectively. We also report that the prevalence of thiamine deficiency in pregnant women who had history of bariatric surgery. The rate was highest in the first trimester (12%) compared to that in the second (8%) and third (10%) trimesters. The baseline prevalence is 7% for thiamine deficiency in bariatric surgery candidates. The prevalence rate of thiamin deficiency increased to 19% and 9% 3 and 6 months after surgery; however, the rate decreased to 6% 1 year after surgery. Due to the higher prevalence of thiamine deficiency in the early post-operative phase, close monitoring during this period is recommended. A similar strategy should be implemented for pregnant women with history of bariatric surgery in their first trimester.

Glucagon-Like Peptide 1 (GLP-1) Receptor Variants and Glycemic Response to Liraglutide: A Pharmacogenetics Study in Iranian People with Type 2 Diabetes Mellitus.

INTRODUCTION: Pharmacogenetics studies suggest that genetic variants have a possible influence on the inter-individual differences in therapeutic response to glucagon-like peptide 1 receptor agonists (GLP-1 RAs). We aimed to examine the potential role of genetic variability of glucagon-like peptide 1 receptor (GLP-1R) on glycemic response to GLP-1 RAs in a population of Iranian people with type 2 diabetes mellitus (T2DM). METHODS: In this study, we analyzed the data from participants in a non-inferiority randomized clinical trial between 2019 and 2020. Patients received liraglutide 1.8 mg/day subcutaneously for 24 weeks. They were stratified by the baseline hemoglobin A1c (HbA1c) into four categories: 7-7.99, 8-8.99, 9-9.99, and ≥ 10%. In each category, subjects with HbA1c reduction greater than the median ΔHbA1c value for that group were defined as optimal responders. The pooled number of optimal/suboptimal responders in the four groups was used for the comparison. We evaluated two genetic variants of GLP-1R, rs6923761 and rs10305420, using Sanger sequencing. Logistic regression analyses were performed to examine the associations of the GLP-1R variants with the glycemic response in different genetic models. RESULTS: Out of 233 participants, 120 individuals were optimal responders. Median HbA1c reduction was - 2.5% in the optimal responder group compared with - 1.0% in the suboptimal responder group (P < 0.001). In genetic models, rs10305420 T allele homozygosity was associated with optimal glycemic response to liraglutide compared with heterozygous and wild-type homozygous states (recessive model: OR 3.28, 95% CI 1.41-7.65, P = 0.006; codominant model: OR 2.52, 95% CI 1.03-6.13, P = 0.04). No significant association was found between rs6923761 variant and HbA1c reduction. CONCLUSION: GLP-1R rs10305420 polymorphism can explain some of the inter-individual differences in glycemic response to liraglutide in a population of Iranian people with T2DM.

Prediction of blood pressure based on anthropometric measurements in adolescents.

BACKGROUND: Recently, an important health issue in children is obesity, leading to hypertension. The aim of this study was to determine association of blood pressure with anthropometric variables in adolescents. METHODS: In this study, 1992 adolescents aged 11-18 years old between 2000 and 2007 were included. Cut point of anthropometric indices of waist circumference (WC), waist-to-stature ratio (WSR) and body mass index (BMI) was identified using Youden's index. RESULTS: Cut point of BMI for identification of hypertension was 19.69, 25.5, 20.65 and 24.13 for boys at middle and high school, girls at middle and high school, respectively. This measure for WSR was 0.44, 0.50, 0.45 and 0.517 for boys at middle and high school, girls at middle and high school, respectively. Regarding WC, it was 69.50, 96.5, 65.5 and 77.5 for boys at middle and high school, girls at middle and high school, respectively. CONCLUSIONS: In middle school boys, WSR, WC and BMI are associated with DBP but by increasing age, only BMI and weight are associated with DBP. BMI is the consistent anthropometric determinant of DBP. We also observed the relationship between WSR and SBP in boys, which could be applied as a predictive measure.

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing.

Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing's syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene, is one of the associated causes of PMAH. This study aimed to identify the variant responsible for Iranian familial PMAH. Methods: The proband, a 44-year-old woman, was directed to whole-exome sequencing (WES) of the blood sample to discover a germline variant. In addition, the identified causative variant was confirmed and segregated in other and available unaffected family members. Results: The novel germline heterozygous missense variant, c.2105C>A in the ARMC5 gene, was found, and the same germline variant as the proband was confirmed in two affected sisters. This variant was detected in the brother of the proband with an asymptomatic condition and this considered because of incomplete penetrance and age-dependent appearance. The function of the ARMC5 protein would be damaged by the identified variant, according to in silico and computer analyses that followed. Conclusion: The new germline ARMC5 variation (c.2105C>A, (p. Ala702Glu)) was interpreted as a likely pathogenic variant based on ACMG and Sherloc standards. PMAH may be diagnosed early using genetic testing that shows inherited autosomal dominant mutations in the ARMC5 gene.

Evaluation of Psychological Distress, Self-Care, and Medication Adherence in Association with Hypertension Control.

Background: Most of the patients with hypertension (HTN) who undergo medical therapy unaccompanied by psychological and behavioral interventions may not achieve their goal in HTN treatment. Self-care is a key factor in controlling HTN. Given that depression, stress, and anxiety are the most psychological disorders in chronic illnesses. Their impact on self-care, quality of life, and HTN control must be studied more. Methods: We analyzed the difference in medication adherence in 252 patients with low vs. high psychological distress. Also, patients with controlled and uncontrolled HTN were compared according to their psychological distress scores. We further assessed the relation of psychological distress, self-care, and medication adherence with patients' demographic characteristics. Results: 61.3% of our participants were female with a mean age of 60.6 ± 11.35 and male participants had a mean age of 60.5 ± 11.55. The psychological distress score was significantly higher in women with uncontrolled HTN (p value = 0.044). Also, individuals with controlled HTN tend to have a higher medication adherence score (p value = 0.01) and higher self-care score (p value = 0.033). Hypertensive females had a higher psychological distress score (3.35 ± 2.05) and a lower self-care score (64.05 ± 8.16). There was a positive relationship between age and drug adherence. The self-care score was higher (65.95 ± 7.88) in patients having lower psychological distress levels. Conclusion: A lower psychological distress score can result in better self-care, enhancing the probability of better HTN control; thus, psychological interventions may be necessary for the treatment of HTN. However, more studies are needed to assess the effectiveness of this intervention.

Comprehensive transcriptome mining identified the gene expression signature and differentially regulated pathways of the late-onset preeclampsia.

Preeclampsia (PE) is categorized as a pregnancy-related hypertensive disorder and is a serious concern in pregnancies. Several factors, including genetic factors (placenta gene expression, and imprinting), oxidative stress, the inaccurate immune response of the mother, and the environmental factors are responsible for PE development, but still, the exact mechanism of the pathogenesis has remained unknown. The main aim of the present study is to identify the gene expression signature in placenta tissue, to unveil disease etiology mechanisms. The GEO, PubMed, and ArrayExpress databases have selected to identify gene expression datasets on placenta samples of both preeclampsia and the normotensive controls. A comprehensive gene expression meta-analysis of fourteen publicly available microarray data of preeclampsia disease has performed to identify gene expression signature and responsible biological pathways and processes. Using two different meta-analysis pipeline (in-house and INMEX) we have identified a total of 1234 differentially expressed genes (DEGs) with in-house method, including 713 overexpressed and 356 under-expressed genes whereas 272 DEGs (131 over and 141 under-expressed) have identified with INMEX, across PEs and healthy controls. Comprehensive functional enrichment and pathway analysis was performed by EnrichR library, whic revealed "Asparagine N-linked glycosylation Homo sapiens", "Nef and signal transduction", "Hemostasis", and "immune system" among the most enriched terms. The present study sets out to explain a novel database of candidate genetic markers and biological pathways that play a critical role in PE development, which might aid in the identification of diagnostic, prognostic, and therapeutic informative molecules.

Maternal or paternal history: Which one plays more important role in developing hypertension?

BACKGROUND: Hypertension (HTN) is one of the most common non-communicable diseases (NCDs), which in 2017 accounted for 1.65% of all deaths, and 0.66% of disability-adjusted life years (DALYs). About 25% of the adult population are hypertensive in Iran. Prevalence of HTN is significantly higher in those with a family history of HTN. This study compares the impact of paternal and maternal history of HTN on the risk of HTN development. METHODS: This cross-sectional study was conducted among 2107 adults of 18-84 years old residing in Isfahan, Iran, from August 2015 to March 2016. Blood pressure (BP) measurement standards were taken from World Health Organization (WHO) guidelines. We measured BP in the right arm for three times at 1-minute intervals and considered the mean of second and third measurements. Other data were collected by questionnaire. RESULTS: Prevalence of HTN was higher in participants whose mother or both parents were hypertensive (P < 0.001). Diastolic BP (DBP) was affected by every side of parental history (P < 0.001), while systolic BP(SBP) was affected when both parents were hypertensive (P < 0.001). As a result, maternal family history increased the odds of HTN by 1.9 times [95% confidence interval (CI): 1.35-2.65] and both maternal and paternal history increased it by 3.1 times (95% CI: 2.01-4.78) compared to those with no family history. However, paternal history was not significantly related to the odds of HTN. CONCLUSION: Our study results demonstrate that maternal history of HTN doubles the odds of HTN. Besides, if both parents are hypertensive, it will be tripled.

NGLY1 deficiency: Novel variants and literature review.

NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary movements, and decreased or absent tear production. Liver biopsy demonstrates vacuolar amorphous cytoplasmic storage material. NGLY1 deficiency is caused by bi-allelic variants in NGLY1 which catalyzes protein deglycosylation. We describe five patients from two families with NGLY1 deficiency due to homozygosity for two novel NGLY1 variants, and compare their findings to those of earlier reported patients. The typical features of the disorder are present in a limited way, and there is intra-familial variability. In addition in one of the families the muscle atrophy and posture abnormalities are marked. These can be explained either as variability of the phenotype or as sign of slowly progression of features as the present affected individuals are older than earlier reported patients.

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WES) for the genetic analysis of the liver GSD-suspected patients in three unrelated families. An in-house filtering pipeline was used to assess rare pathogenic variants in GSD-associated genes, autosomal recessive/mendelian disorder genes (carrier status for genetic counseling subjects), and the ACMG's list of 59 actionable genes. For the interpretation of the causative variants and the incidental/secondary findings, ACMG guidelines were applied. Additionally, we have explored PharmGKB class IA/IB pharmacogenetic variants. The segregation analysis was performed using Sanger sequencing for the novel causative variants. Bioinformatics analysis of the exome data in three individuals revealed three novel homozygous causative variants in the GSD-associated genes. The first variant, c.298_307delATGATCAACC in PYGL gene has related to HERS disease (GSD VI). Both variants of c.1043dupT and c.613-1G > C in SLC2A2 gene have been associated with Fanconi-Bickel syndrome (GSDXI). Eight pathogenic/likely pathogenic medical actionable findings in Mendelian disease genes and 10 pharmacogenetic variants with underlying drug response phenotypes have been identified. No known/expected pathogenic variants were detected in the ACMG's list of 59 actionable genes. The logical filtering steps can help in finding other medical actionable secondary/incidental findings as well as effectively identifying the causative variants in heterogeneous conditions such as GSDs. Three novel variants related to GSD genes recognized in liver GSD-suspected patients with early infantile and childhood-age onset.

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).

BACKGROUND: Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC) and glucose-6-phosphate transporter (SLC37A4), respectively. The high rates of consanguineous marriages in Iran provide a desirable context to facilitate finding the homozygous pathogenic mutations. This study designates to evaluate the clinical and genetic characteristics of patients with GSD1b to assess the possible genotype-phenotype correlation. RESULTS: Autozygosity mapping was performed on nineteen GSD suspected families to suggest the causative loci. The mapping was done using two panels of short tandem repeat (STR) markers linked to the corresponding genes. The patients with autozygous haplotype block for the markers flanking the genes were selected for direct sequencing. Six patients showed autozygosity in the candidate markers for SLC37A4. Three causative variants were detected. The recurrent mutation of c.1042_1043delCT (p.Leu348Valfs*53) and a novel missense mutation of c.365G > A (p.G122E) in the homozygous state were identified in the SLC37A4. In silico analysis was performed to predict the pathogenicity of the variants. A novel whole SLC37A4 gene deletion using long-range PCR and sequencing was confirmed as well. Severe and moderate neutropenia was observed in patients with frameshift and missense variants, respectively. The sibling with the whole gene deletion has shown both severe neutropenia and leukopenia. CONCLUSIONS: The results showed that the hematological findings may have an appropriate correlation with the genotype findings. However, for a definite genotype-phenotype correlation, specifically for the clinical and biochemical phenotype, further studies with larger sample sizes are needed.

Disease risk analysis in sea turtles: A baseline study to inform conservation efforts.

The impact of a range of different threats has resulted in the listing of six out of seven sea turtle species on the IUCN Red List of endangered species. Disease risk analysis (DRA) tools are designed to provide objective, repeatable and documented assessment of the disease risks for a population and measures to reduce these risks through management options. To the best of our knowledge, DRAs have not previously been published for sea turtles, although disease is reported to contribute to sea turtle population decline. Here, a comprehensive list of health hazards is provided for all seven species of sea turtles. The possible risk these hazards pose to the health of sea turtles were assessed and "One Health" aspects of interacting with sea turtles were also investigated. The risk assessment was undertaken in collaboration with more than 30 experts in the field including veterinarians, microbiologists, social scientists, epidemiologists and stakeholders, in the form of two international workshops and one local workshop. The general finding of the DRA was the distinct lack of knowledge regarding a link between the presence of pathogens and diseases manifestation in sea turtles. A higher rate of disease in immunocompromised individuals was repeatedly reported and a possible link between immunosuppression and environmental contaminants as a result of anthropogenic influences was suggested. Society based conservation initiatives and as a result the cultural and social aspect of interacting with sea turtles appeared to need more attention and research. A risk management workshop was carried out to acquire the insights of local policy makers about management options for the risks relevant to Queensland and the options were evaluated considering their feasibility and effectiveness. The sea turtle DRA presented here, is a structured guide for future risk assessments to be used in specific scenarios such as translocation and head-starting programs.

Henna ( Lawsonia inermis) as an Inexpensive Method to Prevent Decubitus Ulcers in Critical Care Units: A Randomized Clinical Trial.

BACKGROUND: Henna has been used to combat various diseases and pathological conditions of the skin. This study aimed to determine the cooling and protecting effects of henna on prevention of decubitus ulcers in critical care units. METHOD: This is a randomized clinical trial. It was conducted on 80 patients hospitalized in intensive care units. Patients were randomly allocated into 2 groups of control and intervention (n = 40) by blocking method. For the intervention group, along with the standard prevention cares for decubitus ulcers, henna was applied with 15 cm extent on the patients' sacrum. RESULTS: At the end of the study, 1 patient in the intervention group (2.7% male) and 6 patients in the control group (14.29% male, 2.85% female) had developed decubitus ulcers; this difference was significant ( P = .001). CONCLUSION: For every patient at risk of developing decubitus ulcers, application of henna as a preventive measure is recommended.

Prevalence, awareness, treatment, control, and risk factors of hypertension among adults: a cross-sectional study in Iran.

OBJECTIVES: Hypertension (HTN) is an important risk factor for cardiovascular disease. Considering the importance of this disease for public health, this study was designed in order to determine the prevalence, awareness, treatment, control, and risk factors of HTN in the Iranian adult population. METHODS: This cross-sectional study was conducted among 2,107 residents of Isfahan, Iran. Samples were selected through multi-stage random cluster sampling in 2015-2016. The outcome variable was HTN, determined by measuring blood pressure in the right arm via a digital arm blood pressure monitor. Awareness, treatment, and control of HTN were assessed by a validated and reliable researcher-developed questionnaire. Other demographic and clinical variables were assessed via a demographic questionnaire. RESULTS: The overall prevalence of HTN was 17.3% (18.9 and 15.5% in men and women, respectively). The prevalence of HTN increased in both genders with age. The prevalence of awareness of HTN among people with HTN was 69.2%, of whom 92.4 and 59.9% were taking medication for HTN and had controlled HTN, respectively. Logistic regression identified age, body mass index, having diabetes and hyperlipidemia, and a positive family history of HTN as determinants of awareness of HTN. CONCLUSIONS: The results showed that HTN was highly prevalent in the community, especially in men and in middle-aged and older adults. Approximately 30.8% of patients were unaware of their disease, and there was less awareness among younger adults. Despite the high frequency of taking medication to treat HTN, it was uncontrolled in more than 40.1% of patients. Health policy-makers should therefore consider appropriate preventive and therapeutic strategies for these high-risk groups.

Urinary exosomal expression of long non-coding RNAs as diagnostic marker in bladder cancer.

BACKGROUND: Long non-coding RNAs (lncRNAs) and exosomes have been regarded as components of cell signal transmission that modulate indigenous cellular microenvironments. Exosomes also participate in relocation of functional lncRNAs between cells. METHODS: In the present study, we evaluated expression of LINC00355, LINC00958, UCA1-201, UCA1-203, and MALAT1 lncRNAs in urinary exosomes isolated from transitional cell carcinoma (TCC) of bladder, non-malignant urinary disorders, and normal subjects. RESULTS: LINC00355, UCA1-203, and MALAT1 expression was significantly higher in TCC patients compared to controls (non-malignant or normal samples). However, UCA1-201 expression was significantly decreased in TCC patients compared with controls. LINC00355 and MALAT1 expression was significantly lower in cigarette smokers and opium-addicted TCC patients, respectively. On the other hand, LINC00355 expression tended to be higher in opium-addicted TCC patients. The proposed panel of lncRNAs (composed of UCA1-201, UCA1-203, MALAT1, and LINC00355) had 92% sensitivity and 91.7% specificity for diagnosis of bladder cancer from normal samples. CONCLUSION: Transcript levels of lncRNAs in urinary exosomes are potential diagnostic bio-markers in bladder cancer.

Genotyping of Echinococcus granulosus Isolates from Human Clinical Samples Based on Sequencing of Mitochondrial Genes in Iran, Tehran.

BACKGROUND: The present study was aimed to investigate molecular diversity of Echinococcus granulosus isolates collected from human clinical samples using two mitochondrial genes cox1 and nad1 in Iran. METHODS: Forty seven human hydatid cysts were collected through surgery from two hospitals in Tehran during 2010-2012. To determine the fertility of protoscoleces, the cyst fluids were subjected to morphological microscopic examinations. Protoscoleces were removed from each cyst and their total genomic DNAs were extracted. PCR was performed to amplify fragments of 450 and 400 base pair (bp) for cox1 and nad1 genes, respectively. Genotype diversity and sequence variation of the strains were studied by bioinformatics software and in comparison with those mtDNA sequences already deposited in GenBank. RESULTS: Sixteen, (53.3%), 13 (43.3%), and 1 (3.3%) samples were related to lung, liver, and spleen, respectively. The remained 17 unfertile samples were excluded from the study. From the 29 isolates, 86.7% (n=26) and 10% (n=3) were related to G1, and G3 genotypes, respectively. The sole isolate with G6 genotype was obtained from lung sample. Analysis of concatenated sequences of cox1+nad1 indicated the presence of 11 haplotypes among our strains that were related to genotypes G1 (n=9), G3 (n=1) and G6 (n=1). CONCLUSION: In consistent to other reports from Iran, genotypes G1, G3, and G6 were observed in our human isolates. The rate of G3 genotype was however higher than other studies implying that human can be considered as a new appropriate host for G3 genotype. Further studies with more sample size from different geographic areas of Iran are needed for E. granulosus mapping.

Mothers' experience of having children with diabetes.

BACKGROUND: Diabetes is a major health problem, which has a wide prevalence in the world. There is no sign of its stopping, but it is increasing. Diabetes in children is three to four times more common than other childhood diseases. Diagnosis of diabetes for children causes emotional responses in parents and family members. Interventions for children with diabetes involve the family, child, and professionals including physicians, nurses, and nutritionist. Self-care is difficult without direct parents' participation. According to studies, burden of diabetes for mothers is more than for fathers. This study aimed to explore mothers' experience of children with diabetes. MATERIALS AND METHODS: This is a qualitative content analysis. Study population was recruited through purposeful sampling. Eleven mothers who have a child with diabetes and referring to the "Glands and Metabolism Research Center" and "Al-Zahra Hospital" were selected. Participants were aged 28 to 42 years. Data gathering was done through deep interviews with participants in 2007 that was tape-recorded. Mean average of interviews was 45 minutes. Data analysis was done using conventional qualitative content analysis. RESULTS: Participants' experience was classified in the two main concepts including reaction at the time of diagnosis and disease consequences for mothers. CONCLUSION: Mothers of children with diabetes expressed some reactions at the time of diagnosis, which was mainly due to lack of information, and lack of attention to their needs at the time of diagnosis, especially it was due to the sudden diagnosis and lack of enough opportunities for mothers to accept the disease. The disease causes some consequences for mothers that affect their lives. Therefore, it is necessary to consider the needs of families of children with diabetes and to provide support and sufficient information about their child's illness for them.

Comparing two levels of closed system suction pressure in ICU patients: Evaluating the relative safety of higher values of suction pressure.

BACKGROUND: Endotracheal suctioning (ETS) is one of the most common supportive measures in intensive care units (ICU). ETS may be associated with complications including hypoxia and tachycardia. Closed system suctioning (CSS) decreases the rate of cardiorespiratory complication mainly due to continuation of ventilatory support and oxygenation during procedure. CSS has questionable efficacy, therefore higher values of negative pressure has been recommended to enhance the efficacy of CSS. This study was designed to evaluate the effects on gas exchange of 200 mmHg suctioning pressure compared with 100 mmHg in CSS. MATERIALS AND METHODS: Fifty mechanically ventilated (MV) ICU patients were selected for the study. Two consecutive ten seconds CSS using suction pressures of 100 and 200 mmHg, in random order applied in each subject with the two hours wash out period. Effects of two levels of suction pressure on gas exchange were measured by recording the SPo2 values at 4 times. RESULTS: Repeated measure analysis of variance didn't show any significant difference between two levels of pressure (P = 0.315), but within each groups (100 and 200 mmHg) SPO2 changes was significant (P = 0.000). There was a mild but significant and transient increase in heart rate following both suction pressures, but no significant difference between two groups. CONCLUSION: The results show that CSS with suction pressure 200 mmHg has no detrimental effect on cardiorespiratory function of MV ICU patients. Since the safety of 200 mmHg suctioning pressure was approved, using 200 mmHg suction pressures is recommended for ETS of MV patients.

Contributory role of viral infection in congenital tumour development.

Congenital tumours are a group of distinct infrequent disorders whose exact aetiologies have not clearly been understood so far. Viral infection seems to be one of the key factors involved in the carcinogenesis of certain tumours. This study was performed to assess whether viral DNAs are present in the congenital tumours or not. Nucleic acid from 31 congenital tumours was extracted. Detection of Epstein-Barr virus, Cytomegalovirus (CMV), adenovirus, Herpes simplex virus 1 (HSV1) and 2, Human herpes virus 6 (HHV6), and BK virus was performed using polymerase chain reaction. Viral nucleic acid was detected in eight subjects (25.8%), mostly adenovirus, CMV, and HHV6. Despite their low frequencies, a possible role could be identified for viral infections in tumour development or progression.