scholarly journals Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-12 ◽  
Author(s):  
Mohammed Alanazi ◽  
Abdulrahman Saud Al-Arfaj ◽  
Zainularifeen Abduljaleel ◽  
Hussein Fahad Al-Arfaj ◽  
Narasimha Reddy Parine ◽  
...  

Over the past decade, a steady increase in the incidence of HPRT-related hyperuricemia (HRH) has been observed in Saudi Arabia. We examined all the nine exons of HPRT gene for mutations in ten biochemically confirmed hyperuricemia patients, including one female and three normal controls. In all, we identified 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid. The Lys103Met alteration was highly recurrent and was observed in 50% of the cases, while Ala160Thr and Lys158Asn substitutions were found in two patients. Moreover, in 70% of the patients ≥2 mutations were detected concurrently in the HPRT gene. Interestingly, one of the patients that harbored Lys103Met substitution along with two frameshift mutations at codons 85 and 160 resulting in shortened protein demonstrated unusually high serum uric acid level of 738 μmol/L. Two of the seven point mutations that resulted in amino acid change (Lys103Met and Val160Gly) were predicted to be damaging by SIFT and Polyphen and were further analyzed for their protein stability and function by molecular dynamics simulation. The identified novel mutations in the HPRT gene may prove useful in the prenatal diagnosis and genetic counseling.

Author(s):  
V. Balendu Krishnan ◽  
Prashanth A. S.

Gouty Arthritis has now become a common disease condition which we deal in Ayurveda, but a proper treatment protocol is not followed in many cases. The case reported here was as a result of improper diet and lack of exercise which resulted in an increase serum uric acid level and joint inflammation. The treatment was given at IPD level diagnosing it as Gambhira Vatarakta with valid Chikitsa Siddhanta. This case report provides us a guidelines that even a chronic gouty arthritis with a very high serum uric acid can be treated as per Vataraktha Chikitsa Siddhanta in Ayurveda.


2021 ◽  
Vol 34 (1) ◽  
pp. 26-32
Author(s):  
Md Amzad Hossain Sardar ◽  
Md Khalilur Rahman ◽  
Md Mahidul Alam ◽  
Md Aminul Hasan ◽  
Ashoke Sarker ◽  
...  

Background: Among non-communicable diseases, acute myocardial infarction (AMI) is a common killer of people in the world. The management of AMI patients is one of the major challenges in the field of cardiology. Uric acid has several effects of potential interest in cardiovascular disease. There are some markers indicating an unfavorable prognosis in AMI patients. Uric acid is one of the markers that have been evaluated in research. Objective: The aim of this study was to assess the association between serum uric acid level and in-hospital outcomes of AMI patients. Patients and methods: This longitudinal descriptive study was conducted over 115 AMI patients in the Cardiology Unit of Rajshahi Medical College Hospital during the period of January 2015 to December 2016. Baseline characteristics such as age, sex, BMI, BP, RBS, risk factors (hypertension, DM, smoking, family history of IHD, dyslipidemia), and outcomes of AMI patients (acute LVF, arrhythmia, conduction block, cardiogenic shock, death) were recorded. We measured the serum uric acid of this patient at admission.  Results: The mean age of patients was 52.83±10.71 years. Out of 115 patients, 83.5% were male, and 16.5% were female. Among the risk factors, 65.2% of patients had HTN, 20.9% DM, 64.3% smoking, 16.5% family history of IHD, and 47.8% dyslipidemia. Out of 115, 35.7% of patients demonstrated high serum uric acid. In outcomes of AMI patients, acute LVF 24.4% (p=0.031) and death 12.2% (p=0.041) were significantly higher in patients with high serum uric acid levels. Conclusion: Significant association was found between high serum uric acid level and in-hospital outcomes of AMI patients. So, estimation of serum uric acid may offer an inexpensive, quick, and non-invasive method for identifying such high-risk patients. TAJ 2021; 34: No-1: 26-32


2018 ◽  
Vol 9 (2) ◽  
pp. 49-53
Author(s):  
S Ferdous ◽  
K Begum ◽  
MA Muttalib

Hyperuricemia is associated with higher mortality in patients suffering from hypertension, coronary heart disease, cerebrovascular events, metabolic syndrome, insulin resistance, gout and renal stone formation and it is more in individuals with diabetes. The prevalence of hyperuricemia is high in T2DM. The aim of the present study was to assess the relationship between hyperuricemia and blood pressure in T2DM subjects and thus to help the clinician for early diagnosis, treatment and to prevent further complications. Total 350 study subjects were enrolled for this study; among them 203 were T2DM with normal level of serum uric acid level and 147 were T2DM with high serum uric acid level. It was observed that systolic blood pressure was significantly higher (134.5±9.6 mm of Hg) in T2DM with hyperuricemia (p<0.001) than T2DM with normal serum uric acid level (123.3±10.9 mm of Hg). On the other hand diastolic blood pressure was significantly higher (87.1±5.9 mm of Hg) in T2DM with hyperuricemia (p<0.001) than T2DM with normal serum uric acid level (79.6±8.3 mm of Hg). Age (years) showed no significant difference between T2DM with serum uric acid<7 mg/dl and T2DM with serum uric acid>7 mg/dl (p<0.05). In our study it was revealed that males were in greater risk of developing hyperuricemia. BMI was significantly (p<0.001) greater in T2DM subjects who had normal serum uric acid level (27.9±3.8) than with those who had serum uric acid>7 mg/dl (24.4±3.83). No significant differences were found in FBS, blood sugar 2 hours after breakfast, HbA1C, serum creatinine and blood urea between groups.Bangladesh J Med Biochem 2016; 9(2): 49-53


2016 ◽  
Vol 27 (4) ◽  
pp. 412-418 ◽  
Author(s):  
Bekir S. Yildiz ◽  
Emel Ozkan ◽  
Fatma Esin ◽  
Yusuf I. Alihanoglu ◽  
Hayrettin Ozkan ◽  
...  

2015 ◽  
Vol 22 (07) ◽  
pp. 854-858
Author(s):  
Muhammad Iqbal Shah ◽  
Ramesh Kumar Suthar ◽  
Mukhtiar Ahmed Soomro

Background: Little and sparse information is present in our population onassociation between serum uric acid and essential hypertension .Increased serum uric acid isrelated with elevated blood pressure in different research studies. The relationship betweenserum uric acid level and high blood pressure can be difficult to assess because drugs for highblood pressure usually affect uric acid level. Objectives: The objective of our study is to evaluatethe association of serum uric acid to severity and duration of essential hypertension at LiaquatUniversity Hospital (tertiary care) Hyderabad / Jamshoro Methodology: Study Design: Casecontrol and prospective study. Setting: Medical wards and Out Patient Medicine Department ofLiaquat University Hospital Hyderabad / Jamshoro. Period: One year i.e. from 20th March 2013to 19th February 2014. Methodology: A total of 75 high blood pressure subjects aged 35 yearsand above were included as cases with same number(75) of age & sex matched normal bloodpressure subjects as controls after excluding, Secondary hypertension, metabolic syndrome,Diabetes Mellitus, age <40 ;>70 years, hypothyroidism, hyperparathyroidism, Ischemic heartdisease, congestive cardiac failure,Alcohol abuse, Renal Insufficiency, glomerulonephritis,pyelonephritis, hereditary nephropathy, patients on drugs –, ethambutol,levodopa pyrazinamide,low dose asprin, Cytotoxic drugs, nicotinic acid ,thiazide diuretics.. Qualitative and quantitativedata were evaluated in SPSS version 16.0. Results: The mean serum uric acid level was 6.3± 1.4 mg/dl vs 4.5 ± 1.2 mg/dl in case (n = 75) and control patients (n = 75) respectively. Atotal of 23 (30.6%, n = 75) patients in cases and 8 (10.6%) subjects in control had high serumuric acid (Odds Ratio 2.13, p <0.05). Therefore, the frequency of increased serum uric acidlevel subjects & mean serum uric acid level were significantly greater in hypertensive cases,as compared to those of healthy normal blood pressure Controls. Serum uric acid correlatedpositively with both systolic blood pressure (r=0.132, p<0.01) and diastolic blood pressure(r=0.214; p<0.01). Conclusion: High serum uric acid is frequent in our populace with essentialhypertension and there is relationship between serum uric acid level and blood pressure.Further large scale research studies on the pathophysiologic significance of high serum uricacid in these high blood pressure patients are in further need.


2021 ◽  
Vol 19 (1) ◽  
pp. 50-54
Author(s):  
Aruna Sayami ◽  
Aatmaram Gupta ◽  
Narayan Gautam

Introduction: Psoriasis is a common, chronic, inflammatory and proliferative condition of the skin, associated with various disorders including metabolic syndrome. High serum uric acid levels are also associated with metabolic syndrome. Hyperuricemia is associated with psoriasis and psoriatic arthritis. Objectives: To find out the association of serum uric acid with psoriasis. Materials and Method:  It was a case-control study including 104 patients, among them 52 were psoriatic patients (case) and 52 had disease other than psoriasis (control) after matching for age and sex. The study was conducted at Department of Dermatology, Universal College of Medical Science, from January- December 2017. Clinical examination and proforma documentation including patient details, laboratory values of serum uric acid level, Psoriasis Area and Severity Index score were studied. Results:  Mean SUA in psoriasis patients was 4.70±1.37 mg/dl in female, 5.57±1.18 mg/dl in male whereas 4.85±0.74 mg/dl in female and 4.34 ± 0.98 mg/dl in male respectively in control group (p=0.002). Six (18.88%) male and three (15.78%) female patients with psoriasis had higher serum uric acid value whereas only four (3.84%) patient  had  higherserum uric acid  value in control group (p=0.012). There was association between serum uric acid and psoriasis. Conclusion: Our study concludes that serum uric acid level is increased in psoriasis patients when compared with controls. Monitoring of psoriatic patients for high serum uric acid levels during treatment and follow up should be done to prevent the its deleterious effect on psoriasis.


2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
R. Constance Wiener ◽  
Anoop Shankar

Sleep disordered breathing as well as high serum uric acid levels are independent risk factors for cardiovascular disease. However, studies evaluating the relationship between sleep-disordered breathing and hyperuricemia are limited. We examined the 2005–2008 National Health and Nutrition Examination survey's sleep variables and high serum uric acid among 6491 participants aged≥20years. The sleep variables included sleep duration, snoring, snorting, and daytime sleepiness. The main outcome was high serum uric acid level, defined as levels of serum uric acid>6.8 mg/dL in males and>6.0 mg/dL in females. We found that snoring more than 5 nights per week, daytime sleepiness, and an additive composite score of sleep variables were associated with high serum uric acid in the age- , sex-adjusted model and in a multivariable model adjusting for demographic and lifestyle/behavioral risk factors. The association was attenuated with the addition of variables related to clinical outcomes such as depression, diabetes, hypertension, and high-cholesterol levels. Our results indicate a positive relationship between sleep variables, including the presence of snoring, snorting, and daytime sleepiness, and high serum uric acid levels.


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