Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran

2020 ◽  
Vol 33 (3) ◽  
pp. 355-359
Author(s):  
Reza Jafarzadeh-Esfehani ◽  
Samaneh Vojdani ◽  
Somayyeh Hashemian ◽  
Mohammadreza Mirinezhad ◽  
Mohammad Pourafshar ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Cross Sectional Study ◽  
Genetic Variations ◽  
Compound Heterozygous ◽  
Cross Sectional ◽  
Present Cross Sectional Study ◽  
Different Populations ◽  
Diagnostic Work ◽  
Great Burden

AbstractBackgroundPhenylketonuria (PKU) is a common metabolic disorder with great burden if left untreated or undiagnosed. Genetic variations in the phenylalanine hydroxylase (PAH) gene may be widely varied across different regions of a country. By knowing the most common mutations, diagnostic work-ups will be offered sooner and with lower costs for patients. The present study defines the most common genetic variations in the PAH gene in Khorasan province of Iran.MethodsThe present cross-sectional study took place in Khorasan province of Iran within a 6-year period starting from 2012 to 2018. Every patient who had been referred as suspicious PKU cases or referred for prenatal diagnosis was included in the present study.ResultsA total number of 122 individuals with a mean age of 26.22 years were enrolled in the present study. The most frequent genetic variations in the PAH gene were c.1066-11G > A and c.143 T > C. Exon 7 carried the most genetic variations compared to any single exon. Also, three patients had compound heterozygous status for c.727 C > T/c.1066-11 G > A in exon 7 and 11 of the PAH gene.ConclusionsMutations in the PAH gene are widely varied among different populations, and our results confirmed this fact. Determination of the most prevalent mutations and polymorphisms in each region will reduce the time and cost of diagnosing such preventable diseases and will therefore reduce the disease burden.

scholarly journals Correlation between Happiness and Depression According to Beck Depression and Oxford Happiness Inventory among University Students

2016 ◽  
Vol 5 (2) ◽  
pp. 75-81
Author(s):  
Mohsen Rezaee ◽  
Arvin Hedayati ◽  
Mohammad Mehdi Naghizadeh ◽  
Mojtaba Farjam ◽  
Hamid Reza Sabet ◽  
...  
Keyword(s):  
Negative Relationship ◽  
Cross Sectional Study ◽  
Depression Score ◽  
Fars Province ◽  
Medical Sciences ◽  
Cross Sectional ◽  
Significant Negative Relationship ◽  
Different Populations ◽  
Oxford Happiness Inventory

Background: Happiness is a subjective emotional state associated with a wide number of personal and socio-economic factors evaluated with Oxford Happiness Inventory (OHI). Depression is a syndrome diagnosed by psychiatric criteria and measured by Beck depression questionnaire. The goal of this study was to evaluate the correlation between happiness and depression, measured by OHI and Beck questionnaire, respectively in a population of university students.Materials and Methods: This cross-sectional study was conducted in 2014 at Fasa University of Medical Sciences, Fars province, Iran. OHI, Beck questionnaire and demographic information sheet were filled by 216 students between 18 to 30 years old. Analyses were done to test the correlation between depression and happiness scores as well as happiness and several demographic factors. Results: Two hundred and sixteen students, 142(65.7%) females and 74 (34.3%) males with mean ages of 20.67±1.52 years old participated. There was a significant reverse correlation between happiness and depression scores (P<0.001) with correlation coefficient of -0.757. Coefficient for determination was 0.57 for this correlation. Significant negative relationship existed between happiness and addiction in the family (P=0.001). Positive correlation was found between happiness and marriage (P=0.036). Conclusion: This study reports when happiness score increases, the depression score decreases; however, the coefficient for determination of this correlation shows that only a little more than half of happiness changes are described and assessed with depression score. It seems that the two psychometric tools do not completely stand against each other. Hence, happiness cannot be translated to lack of happiness. For further evaluation of this relationship, case-control and cohort studies are needed in different populations. [GMJ.2016;5(2):75-81]

scholarly journals Morphological study of variations in shape of coronoid process of adult human mandible

2021 ◽  
Vol 8 (2) ◽  
pp. 116-118
Author(s):  
Nimisha Madhu ◽  
Chandra Kiran ◽  
Rajendra Prasad ◽  
Praveen Kumar ◽  
Ramanuj Singh ◽  
...  
Keyword(s):  
Cross Sectional Study ◽  
Coronoid Process ◽  
Sectional Study ◽  
Cross Sectional ◽  
Morphological Variations ◽  
Medical College ◽  
Adult Human ◽  
Present Cross Sectional Study ◽  
Different Populations ◽  
The Difference

Many researchers have studied the morphology of coronoid process and have found varying shapes but such a study is lacking in this area.The present study was conducted to identify different morphological variations in shape of coronoid process of adult human mandible. The present cross-sectional study was conducted in the department of Anatomy at a Medical College of Bihar upon 46 dry adult human mandibles i.e. 92 coronoid processes. The morphological forms of coronoid process were noted.57.6% of coronoid processes were triangular in shape, 28.3% were rounded and 14.1% were hook shaped. The difference between male and female mandibles was found to be statistically significant (p=0.004).The proper knowledge on the morphological shapes of coronoid process is useful for maxillofacial surgeons as well as to be used as an anthropological marker to assess different populations and races.

Etiologies, Clinical Manifestations, and Factors Associated with Severe Symptomatic Hyponatremia among Hospitalized Hyponatremia Patients

2020 ◽  
Vol 103 (5) ◽  
pp. 465-471
Keyword(s):  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Hospitalized Patients ◽  
Sectional Study ◽  
Close Attention ◽  
Cross Sectional ◽  
Factors Associated ◽  
Present Cross Sectional Study ◽  
Important Health ◽  
Baseline Characteristics

Background: Hyponatremia is associated with unfavorable outcomes in many cases. The mainstay of hyponatremia treatment depends on its symptoms and etiology. However, etiologies, clinical manifestations, and factors associated with severe symptomatic hyponatremia have been rarely reported. Objective: To analyze and report etiologies, clinical manifestations, and factors associated with severe symptomatic hyponatremia. Materials and Methods: In the present cross-sectional study, the authors enrolled hospitalized patients with hyponatremia who had consulted a nephrologist between October 1, 2017, and October 31, 2018. Their baseline characteristics and clinical manifestations were recorded. Etiologies were confirmed by the attending nephrology staff. Factors associated with severe symptomatic hyponatremia were evaluated using logistic regression analysis. Results: One hundred patients were included in this study. The syndrome of inappropriate antidiuresis (SIAD), hypovolemia, and hydrochlorothiazide use were the leading hyponatremia etiologies. Hyponatremia etiologies differed between patients with community-acquired hyponatremia (n=50) and those with hospital-associated hyponatremia (n=50). Patients with communityacquired hyponatremia were older, presented with a higher frequency of severe symptomatic hyponatremia, and showed lower SNa-levels. Low SNa-levels were significantly associated with severe symptomatic hyponatremia (p=0.014). Conclusion: Hyponatremia remains an important health problem. SIAD, hypovolemia, and hydrochlorothiazide use are among the leading etiologies of hyponatremia. Low SNa-levels are associated with severe symptomatic hyponatremia; thus, physicians should pay close attention to low SNa-levels in hospitalized patients. Keywords: Hyponatremia, Symptomatic Hyponatremia, Community-acquired hyponatremia, Hospital-associated hyponatremia

scholarly journals Occlusal Characteristics and Spacing in Primary Dentition: A Gender Comparative Cross-Sectional Study

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Madhuri Vegesna ◽  
R. Chandrasekhar ◽  
Vinay Chandrappa
Keyword(s):  
Cross Sectional Study ◽  
Primary Dentition ◽  
Clinical Approach ◽  
Primary Molar ◽  
Cross Sectional ◽  
Normal Occlusion ◽  
Class 1 ◽  
Study Population ◽  
Different Populations ◽  
Males And Females

Context. Occlusion in primary teeth varies among children of different populations and races. Aim. To assess and compare the occlusal characteristics and spacing in primary dentition among 3–6-year-old Dravidian children. Materials and Methods. The study included 2281 school going children. The primary molar relation, canine relation, overjet, and overbite were assessed using Foster and Hamilton criteria. Spacing conditions were registered according to Kisling and Krebs criteria. Results. The flush terminal plane molar relation (80.3%) was the most common primary molar relation. The distal step molar relation was more frequently found in female children (12.8%) than in males (8.6%). Class 1 canine relation was the most prevalent canine relation (81.3%) among males and females. Ideal overjet (84.3%) and overbite (72.7%) were observed among the majority of the children. Spaced type of arches occurred more frequently than closed arches in this sample. The incidence of primate spaces was more in males than in females. Conclusion. The study population has fewer deviations from normal occlusion which indicates decreased tendency for malocclusion in permanent dentition. However, further longitudinal studies are necessary to identify the potential limitations of a clinical approach relying on early orthodontic diagnosis and intervention.

The Relationship of Mode and Intensity of Training on Resting Metabolic Rate in Women

2001 ◽  
Vol 11 (1) ◽  
pp. 1-14 ◽  
Author(s):  
Heidi K. Byrne ◽  
Jack H. Wilmore
Keyword(s):  
Metabolic Rate ◽  
Resting Metabolic Rate ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Women Subjects ◽  
Present Cross Sectional Study ◽  
Significant Difference ◽  
Level Of Training ◽  
The Relationship ◽  
Aerobically Trained

The present cross-sectional study was designed to investigate the relationship between exercise training and resting metabolic rate (RMR). The focus of this investigation was to compare RMR in aerobically trained (AT), resistance trained (RT), and untrained (UNT) women. Subjects were also classified as highly trained (HT), moderately trained (MT), or untrained (UNT) in order to examine the relationship between RMR and level of training. Sixty-one women between the ages of 18 and 46 years volunteered to serve as subjects in this study. Each subject completed measurements of body composition, maximal oxygen uptake (V̇O2max), and two consecutive measurements of RMR. The data presented show that there was no significant difference in resting metabolic rate between resistance-trained, aerobically trained, and control subjects. However, when grouped by intensity of training, there was a trend for an increased resting metabolic rate (kcal/day) in the highly trained subjects, regardless of mode of training.

scholarly journals Student dropout at university: a phase-orientated view on quitting studies and changing majors

2021 ◽  
Author(s):  
Lisa Bäulke ◽  
Carola Grunschel ◽  
Markus Dresel
Keyword(s):  
Decision Making ◽  
Information Search ◽  
Structural Equation ◽  
Cross Sectional Study ◽  
Final Decision ◽  
Cross Sectional ◽  
Confirmatory Factor Analyses ◽  
Student Dropout ◽  
Regulatory Processes ◽  
Present Cross Sectional Study

AbstractStudent dropout can be conceptualized as a decision-making process, consisting of different phases. Based on previous literature on student dropout, decision-making, and action-phases, we proposed that the process of developing dropout intentions includes the following phases: non-fit perception, thoughts of quitting/changing, deliberation, information search, and a final decision. In the present cross-sectional study, we empirically investigated if the assumed phases can be distinguished from each other, if the phases follow the presumed order, and whether each phase is associated with certain characteristics. Furthermore, we considered a strict separation between quitting studies completely and changing a major. For this purpose, we analyzed data of N = 1005 students (average age of 23.0 years; 53% female; 47% male) from a German University. By using confirmatory factor analyses, we found the supposed factor structure for the different phases concerning both kinds of dropout, quitting studies, and changing majors. In each process, structural equation modelling indicated positive relations between adjoining phases. The factor values correlated to a substantial amount with an assortment of variables associated with student dropout. On a theoretical level, the conception of different phases of student dropout helps to get a better understanding of regulatory processes in the context of student dropout.

A Comparative Study between Conventional and Modified Leishman Stain

2021 ◽  
Vol 8 (2) ◽  
pp. 5-12
Author(s):  
Rizwana Abdul Hye ◽  
Bindiya Gisuthan ◽  
Indira Kariveettil
Keyword(s):  
Conventional Method ◽  
Peripheral Blood ◽  
Cross Sectional Study ◽  
Mean Value ◽  
Health Care Centre ◽  
Cross Sectional ◽  
Modified Method ◽  
Present Cross Sectional Study ◽  
Short Period

Introduction: Leishman stain has been used as the stain of choice for peripheral blood films since many decades .But it has a disadvantage of consuming 15 minutes for the procedure alone thereby increasing the turn around time of peripheral smear reporting. In this study modified Leishman stain was made by adding phenol to conventional Leishman to reduce the staining time to 3 minutes without interfering with the quality of stain. Aim: To study the quality of modified Leishman stain in comparison with conventional preparation on peripheral blood smears. Materials and Methods: The present cross-sectional study was carried out in Central Haematology laboratory of a tertiary health care centre in Southern India. A pilot study was done to determine the ideal ratio of phenol to Leishman powder in preparing modified stain without compromising the staining quality. After obtaining consent, the blood sample was collected in anticoagulated vials. Sample size was calculated to be 85.Two thin wedge smears were prepared from each sample and one was stained with conventional Leishman stain and other with modified Leishman stain. The staining characteristics were assessed and scored by an experienced pathologist in terms of 6 parameters- RBC pattern, nuclear pattern, neutrophil granules, eosinophil granules, platelets and background staining. The grades were 1, 2, 3 & 4 (poor, satisfied, good and excellent). Smears each with grades 2, 3 and 4 were selected for study. The results were analysed by Statistical Package for the Social Sciences (SPSS) software version 16.0. Result: The mean value for the staining quality using conventional method was 4.73 and for modified method was 5.39, and the total score possible is 6. Photomicrograph showed excellent results with modified Leishman stain. Thus from these values we can interpret that modified method gave much more acceptable results than that of conventional method. Conclusion: Unlike the conventional method which requires a total of 15 minutes, to complete the staining process, modified Leishman staining techniques takes only 3 minutes. Blood films can be stained within a short period of time thus aiding in rapid diagnosis and treatment of patients. Keywords: Leishman stain, Modified Leishman stain, Phenol.

The Molecular Basis of Beta-Thalassemia Intermedia in Egyptian Children and its Association with the Clinical Phenotype

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Iman Ahmed Ragab ◽  
Shereen Mohamed Abd El-Ghany ◽  
Tarek Mostafa Kamal ◽  
Ghada Samir Abd El-Halim Elsayed
Keyword(s):  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Cross Sectional ◽  
Pediatric Hematology ◽  
Egyptian Children ◽  
Degrees Of Severity

Abstract Background β-thalassemia syndromes involve a collection of extremely diverse phenotypes. The term β-thalassemia intermedia (β-TI) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor thalassemia yet too mild to be termed major thalassemia. However, there remains substantial overlap between the three conditions. Aim of the Work To evaluate the variable clinical phenotypes among pediatric patients with βTI and to study the phenotype / genotype correlation with the encountered β-chain mutations. Patients and Methods A cross-sectional study was conducted on 37 Egyptian children and adolescents with TI following up regularly in the Pediatric Hematology clinic – Ain Shams University. Detailed Clinical evaluation and laboratory investigations were done. Reverse hybridization PCR based assay covering beta globin Mediterranean mutations onto specific biotinylated primers, was done. Results IVS 1.6 (T&gt;C) was the most frequent mutation detected in 20 patients and 31 alleles (47.7%), followed by IVS 1.110 (G&gt;A) detected in 7 patients and 8 alleles (12.31%), followed by IVS 1.1 (G&gt;A) and CD27 knossos (G&gt;T), each was detected in 6 patients and 6 alleles (9.23%). β+β+ was the most frequent genotype (54%), followed by β+β/β°β (21.6%) and β°β+ (13.5%). 60% of β°β+ patients had TDT(Transfusion dependent thalassemia), while 87.5% of β + β/β°β patients and 55% of β + β+ patients had NTDT ((Non transfusion dependent thalassemia). Conclusion Inheritance of mild β+ thalassemia mutations among Egyptian children; as IVS 1.6 (T&gt;C) and IVS 1.110 (G&gt;A) is the most frequent contributor to TI phenotype in either homozygous or compound heterozygous states. Patients with the same underlying genotype presented variable phenotypes with different degrees of severity.

scholarly journals HemoCue against Coulter LH-750 in the estimation of hemoglobin levels of blood donors in mobile collection settings: a comparative study

2018 ◽  
Vol 27 (4) ◽  
pp. 250-5
Author(s):  
Sultan A.M. Saghir ◽  
Amer A. Almaiman ◽  
Aishah K.A. Shatar ◽  
Norris Naim ◽  
Huda S. Baqir
Keyword(s):  
Blood Donors ◽  
Reference Method ◽  
Cross Sectional Study ◽  
Outpatient Setting ◽  
Concordance Correlation ◽  
Cross Sectional ◽  
New Device ◽  
Coefficients Of Variation ◽  
Significant Difference

Background: The fast and outpatient setting for a determination of the hemoglobin (Hb) level is a well-recognized prerequisite to detect anemia in blood donors. This study aimed to evaluate the performance of the HemoCue methods (HemoCue B-Hb and HemoCue-301) against Coulter LH-750 as a reference method for Hb determination.Methods: This study was an experimental cross-sectional study. It includes 455 blood samples that were collected from volunteer blood donors between January 15, 2010 and February 15, 2011. The performance of the three methods and their comparisons were assessed using the analysis of coefficients of variation (CV), linear regression, and mean difference. Correlation coefficient and Bland–Altman plots were drawn to compare the two HemoCue measurements and the automated cell analyzer against each other and to evaluate their results. The Hb concentrations were compared using the concordance correlation coefficient.Results: The findings exhibited that the CV for the three methods Coulter LH-750, HemoCue B-Hb, and HemoCue-301 were 0.60%, 0.72%, and 0.92%, respectively. A statistically significant difference was observed between the means of the Hb measurements for the three methods (p<0.001). The HemoCue B-Hb and HemoCue-301 methods showed the best agreement, and the Coulter LH-750 method gave a lower Hb value compared with the two HemoCue methods. The results showed a positive correlation of HemoCue Hb results compared with the reference method.Conclusion: All three methods provide a good agreement for Hb determination. The new device HemoCue-301 was found to be more accurate compared with HemoCue B-Hb and Coulter LH-750.

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