scholarly journals Haptoglobin Gene Polymorphism among Sickle Cell Patients in West Cameroon: Hematological and Clinical Implications

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Christian Bernard Kengne Fotsing ◽  
Constant Anatole Pieme ◽  
Prosper Cabral Biapa Nya ◽  
Jean Paul Chedjou ◽  
Samuel Ashusong ◽  
...  

Haptoglobin is a protein involved in protecting the body from the harmful effects of free hemoglobin. The haptoglobin gene exhibits a polymorphism, and the different genotypes do not have the same capacity to combat the free hemoglobin effects. The present study aimed at determining the polymorphic distribution of haptoglobin in sickle cell patients (SCPs) from West Cameroon and their impact on the hematological parameters, as well as clinical manifestations of the disease severity. Haptoglobin genotype of 102 SCPs (SS) and 115 healthy individuals (60 AA and 55 AS) was determined by allele-specific polymerase chain reaction, and the complete blood count was determined using the AutoAnalyser. Results showed that the genotype Hp2-2 was significantly ( p  < 0.05) represented in SS patients (54%) than in controls AA and AS (27% and 29%, respectively), while Hp2-1 was mostly found ( p  < 0.05) in AS (42%) and AA (38%), against 15% in SS. The allelic distribution in SS patients was Hp2: 0.613, Hp1S: 0.304, and Hp1F: 0.084. In AA and AS controls, the proportions of the Hp1 and Hp2 alleles were similar (around 0.5 each), with 0.282 for Hp1S and 0.218 for Hp1F in AS and 0.283 for Hp1S and 0.258 for Hp1F in AA. The distribution of the haptoglobin genotypes did not reveal any significant difference across hematological parameters and clinical manifestations of disease severity in SCP and controls. SCP with Hp1S-1F genotype presented the highest level of hemoglobin. Although Hp2-2 was more frequent in SS patients, it appeared not to be related to the hematological parameters and to the disease’s severity. Further investigations are necessary to explore the impact of Hp polymorphism such as antioxidant, lipid profile, and functionality of some tissues in SCP in Cameroon.

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Philip A. I. Guthrie ◽  
Mohammad R. Abdollahi ◽  
Tom Gaunt ◽  
Debbie A. Lawlor ◽  
Yoav Ben-Shlomo ◽  
...  

Background. Haptoglobin acts as an antioxidant by limiting peroxidative tissue damage by free hemoglobin. The haptoglobin gene allele Hp2 comprises a 1.7 kb partial duplication. Relative to allele Hp1, Hp2 carriers form protein multimers, suboptimal for hemoglobin scavenging.Objective. To examine the association of haptoglobin genotype with a range of phenotypes, with emphasis on vitamin C and hemoglobin levels.Methods. We applied a quantitative PCR assay for the duplication junction to two population cohorts including 2747 British women and 1198 British men. We examined the association of haptoglobin duplicon copy number with hemoglobin and vitamin C and used the copy number to complete a phenome scan.Results.Hemoglobin concentrations were greater in those with Hp2,2 genotype, in women only (Hp1,1 13.45 g/dL, Hp1,2 13.49 g/dL, Hp2,2 13.61 g/dL;P=0.002), though statistically there was no evidence of a difference between the sexes (zvalue = 1.2,P=0.24). Haptoglobin genotype was not associated with vitamin C or any other phenotype in either cohort.Conclusions. Our results do not support association of haptoglobin genotype with vitamin C or with other phenotypes measured in two population cohorts. The apparent association between haptoglobin genotype and hemoglobin in the women’s cohort merits further investigation.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sairish Ashraf ◽  
Shayaq Ul Abeer Rasool ◽  
Mudasar Nabi ◽  
Mohd Ashraf Ganie ◽  
Shariq R. Masoodi ◽  
...  

AbstractPolycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.


2017 ◽  
Author(s):  
Horacio J Adrogué ◽  
Nicolaos E Madias

Respiratory acid-base disorders are those disturbances in acid-base equilibrium that are expressed by a primary change in CO2 tension (Pco2) and reflect primary changes in the body’s CO2 stores (i.e., carbonic acid). A primary increase in Pco2 (and a primary increase in the body’s CO2 stores) defines respiratory acidosis or primary hypercapnia and is characterized by acidification of the body fluids. By contrast, a primary decrease in Pco2 (and a primary decrease in the body’s CO2 stores) defines respiratory alkalosis or primary hypocapnia and is characterized by alkalinization of the body fluids. Primary changes in Pco2 elicit secondary physiologic changes in plasma [HCO3ˉ] that are directional and proportional to the primary changes and tend to minimize the impact on acidity. This review presents the pathophysiology, secondary physiologic response, causes, clinical manifestations, diagnosis, and therapeutic principles of respiratory acidosis and respiratory alkalosis.  This review contains 4 figures, 3 tables, and 59 references. Key words: Respiratory acidosis, respiratory alkalosis, primary hypercapnia, primary hypocapnia, hypoxemia, pseudorespiratory alkalosis


2021 ◽  
Vol 11 (6-S) ◽  
pp. 26-32
Author(s):  
Nihad Elsadig Babiker ◽  
Raheeg Mubark Anwer

Background: Aerobic exercise induces physiological stress on the body and brings changes in hematological parameters. This study aimed to determine the effect of playing football as an exercise on the total white blood cell count, absolute Neutrophil, lymphocyte and Platelet counts among Sudanese football players. Material and method:  This was a descriptive case control study, done on a number of football players in Khartoum state, Sudan and conducted within the period from August 2021 to October 2021. Three ml of venous blood samples had been collected from every participant in the study, parameters had been measured and calculated using blood cells counter (Sysmex KX-21N).                                                           Results: When compared the TWBCs, Absolute Neutrophil, Lymphocytes and platelet counts between cases and control there was a significant differences with (P ≤0.05). Also there was a significant difference in the case group before and after one hour of exercise with (P =0.00), and in significant differences between different age groups with (P ≥0.05). Conclusion: Playing football for 1 hour cause a significant increase in the TWBCs, absolute Neutrophils, absolute Lymphocytes and Platelets counts. Age variation has no effect on the measured parameters Keywords: Football, TWBCs, Neutrophils, Lymphocytes and Platelets.


2020 ◽  
Vol 19 (1) ◽  
Author(s):  
Mahsa Maroofi ◽  
Javad Nasrollahzadeh

Abstract Background Intermittent calorie restriction (ICR) is a novel method of dietary restriction for body weight control with the potential to improve obesity-related cardiometabolic markers, but the impact of this diet on subjects with hypertriglyceridemia (HTG) remains unknown. Methods Eighty-eight subjects with overweight or obesity and mild-to-moderate HTG were randomized to the continuous calorie restriction (CCR) group, or ICR group (a very low-calorie diet during 3 days of the week) for 8 weeks (44 patients in each group). Body composition, plasma lipids, glucose, insulin, adiponectin, and liver enzymes were measured at baseline and after 8 weeks. An intention-to-treat analysis was performed. Results The body weight decreased in both groups (4.07 ± 1.83 kg in the CCR group and 4.57 ± 2.21 kg in the ICR group) with no significant difference between the groups. There was no significant difference between the two groups in the reduced amount of fat mass, fat-free mass, and waist circumference. Both groups achieved a significant reduction in plasma triglycerides after 8 weeks (by 15.6 and 6.3% in ICR and CCR groups, respectively) with no difference between treatment groups. HOMA-IR improved significantly in ICR compared to the CCR group (P = 0.03). Plasma glucose, insulin, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, liver enzyme, and adiponectin were not different between the two groups. Conclusions The results of this short-term study suggest that three-days a week of the ICR is comparable to a CCR diet for the reduction of triglycerides level in patients with HTG and in the short-term it appears to be more effective than continuous dieting in improving insulin resistance. However, longer-term studies are needed to confirm these findings. Trial registration Trial registration number:NCT04143971.


2020 ◽  
Vol 98 (Supplement_4) ◽  
pp. 192-193
Author(s):  
Sheyenne M Augenstein ◽  
Meredith A Harrison ◽  
Sarah C Klopatek ◽  
James W Oltjen

Abstract Heat stress continues to be a challenge for feedlot producers, forcing physiological adaptations in beef cattle that can have a negative impact on gain and carcass quality. Feedlots may want to incorporate systems that aid in mitigating heat stress, including sprinkler systems, which are commonly found on dairies. The objective of this study was to determine the impact of sprinkler systems on the body temperature of growing feedlot steers applied at three different temperature thresholds. Thirty-two Angus-cross beef steers (298 ± 15 SD days of age) were randomly assigned to 8 pens. Treatments were assigned to pens according to location to avoid drainage issues, with one replicate located on the eastern side of the feedlot and the other replicate located on the western side. Treatments including no sprinklers (C), high temperature threshold sprinklers (HT), moderate temperature threshold sprinklers (MT) or low temperature threshold sprinklers (LT). Sprinklers (flow rate: 5.11 L/min) were activated at 33°C (HT), 28°C (MT), and 23°C (LT) for five minutes at corresponding temperatures every thirty minutes for 57 days. Rectal temperature of steers in their pens was measured in the morning (0800 h), afternoon (1500 h), and evening (1900 h) three days each week (Monday, Wednesday, Friday) for a total of 19 experimental days. Weather measurements, including ambient temperature, windspeed, humidity and solar radiation were recorded at each measurement time along with the maximum values for each day. The change in body temperature (ΔBT) between the morning and afternoon was affected by ambient temperature (P &lt; 0.01); MT (P = 0.02) and LT (P = 0.02) – different than C. There was no significant difference between sprinkler treatments and the control group (P &gt; 0.05). Day affected (ΔBT) between the morning and afternoon (P &lt; 0.05) and the afternoon and evening (P &lt; 0.05). When averaged by day, the control group was significantly higher than MT (P = 0.04) between the morning and afternoon. The control group was also significantly higher than LT between the morning and afternoon (P = 0.03) and the afternoon and evening (P &lt; 0.01). The change in steer body temperature between afternoon and morning was affected by ambient temperature, and averaged across days, lowering the temperature threshold for sprinkling decreased in the afternoon and evening body temperature increase in steers.


2020 ◽  
pp. 112067212095761
Author(s):  
Oluwatoyin I. Oladimeji ◽  
Oluwagbemiga O. Adeodu ◽  
Oluwatoyin H. Onakpoya ◽  
Samuel A. Adegoke

Introduction: Sickle cell disease (SCD) ranks high among genetic disorders worldwide. It is characterised by repeated vaso-occlusion with resultant end-organ damage. This process can occur in all vascular beds in the body, including ocular blood vessels and may cause irreversible blindness in advanced stages. Little is known of the relationship between the prevalence of ocular abnormalities among children with SCD and their disease severity. Methods: A descriptive cross-sectional study was carried out at the Paediatric Haematology Clinics and the Eye Centre of the Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife. Children with SCD in steady state were recruited from the Haematology Clinics and examined for ocular abnormalities at the Eye Centre of the hospital. The subjects SCD severity grade was determined using a previously validated scoring system. Results: One hundred and twenty (120) children aged 5 to 15 years were examined. Of these, 72 had one or more ocular abnormalities giving the prevalence of ocular abnormalities among them to be 60.0%. Though a higher proportion of children with moderate disease, 23 (65.7%) of 35, compared to those with mild disease, 49 (57.6%) of 85 had ocular abnormalities, this difference was not statistically significant, p = 0.412. Conclusion: Ocular abnormalities among Nigerian children with SCD are common even in steady-state, but not significantly associated with disease severity. Periodic screening for ocular abnormalities should thus be done on them irrespective of disease severity.


2009 ◽  
Vol 30 (4) ◽  
pp. 471-482 ◽  
Author(s):  
Gerasimia Tsasi ◽  
Efstratios Valakos ◽  
Chrysi Simou ◽  
Panayiotis Pafilis

AbstractCaudal autotomy, the self-induced tail shedding from the body, is a common defensive strategy in lizards. Tail loss is followed rapidly by regeneration, revealing the importance of a fully functional tail. Predation pressure has been traditionally correlated with autotomy performance. However there is a lack of evidence regarding the impact of predation regime on tail regeneration. Another important factor that has been neglected is the population density. Though it is well established that crowding alters various life-history traits, the impact of density on caudal regeneration remains understudied. In this paper we compared three island populations of the Aegean Wall Lizard (Podarcis erhardii) that have evolved under different levels of predation pressure: whereas the Naxos population is exposed to numerous predators the Kopries and Daskalio islet populations experience low predation pressure. To evaluate the effect of density-induced stress on caudal regeneration, lizards were treated under two conditions of housing, in single and crowded (six individuals) terraria. Tail sheding occurred prior to this treatment following a standardised method. The length of regenerated tail was recorded weekly. Regeneration rate was higher in single terraria when compared to crowded, reflecting the negative impact of crowding. However we failed to detect any statistically significant difference between single and crowded terraria in the case of Naxos. We believe that the underlying reason must be the heavy predation pressure under which rapid tail regeneration, even under unfavourable conditions, is crucial for survival. It seems that the imperious need for regeneration counteracts density-induced stress.


2015 ◽  
Vol 112 (5) ◽  
pp. 1422-1427 ◽  
Author(s):  
E Du ◽  
Monica Diez-Silva ◽  
Gregory J. Kato ◽  
Ming Dao ◽  
Subra Suresh

We developed a microfluidics-based model to quantify cell-level processes modulating the pathophysiology of sickle cell disease (SCD). This in vitro model enabled quantitative investigations of the kinetics of cell sickling, unsickling, and cell rheology. We created short-term and long-term hypoxic conditions to simulate normal and retarded transit scenarios in microvasculature. Using blood samples from 25 SCD patients with sickle hemoglobin (HbS) levels varying from 64 to 90.1%, we investigated how cell biophysical alterations during blood flow correlated with hematological parameters, HbS level, and hydroxyurea (HU) therapy. From these measurements, we identified two severe cases of SCD that were also independently validated as severe from a genotype-based disease severity classification. These results point to the potential of this method as a diagnostic indicator of disease severity. In addition, we investigated the role of cell density in the kinetics of cell sickling. We observed an effect of HU therapy mainly in relatively dense cell populations, and that the sickled fraction increased with cell density. These results lend support to the possibility that the microfluidic platform developed here offers a unique and quantitative approach to assess the kinetic, rheological, and hematological factors involved in vasoocclusive events associated with SCD and to develop alternative diagnostic tools for disease severity to supplement other methods. Such insights may also lead to a better understanding of the pathogenic basis and mechanism of drug response in SCD.


Author(s):  
Panpim Thongsripong ◽  
Dawn M Wesson

Abstract Dengue virus infection, transmitted via mosquito bites, poses a substantial risk to global public health. Studies suggest that the mosquito’s microbial community can profoundly influence vector-borne pathogen transmissions, including dengue virus. Ascogregarina culicis (Ross) of the phylum Apicomplexa is among the most common parasites of Aedes aegypti (Linnaeus), the principal vector of dengue. Despite a high prevalence worldwide, including in the areas where dengue is endemic, the impact of A. culicis on Ae. aegypti vector competence for dengue virus is unknown. This study aimed to investigate the effects of A. culicis infection on mosquito size and fitness, as measured by wing length, and the susceptibility to dengue virus infection in Ae. aegypti. Our results showed that there was no statistically significant difference in wing lengths between Ae. aegypti infected and not infected with A. culicis. Furthermore, A. culicis infection did not significantly affect dengue virus infection or disseminated infection rate. However, there was a significant association between shorter wings and higher dengue virus infection rate, whereby a 0.1-mm increase in wing length decreased the odds of the mosquito being infected by 32%. Thus, based on our result, A. culicis infection does not influence the body size and dengue virus infection in Ae. aegypti. This study helps to shed light on a common but neglected eukaryotic mosquito parasite.


Sign in / Sign up

Export Citation Format

Share Document