scholarly journals Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Laura K. Case ◽  
Jaquette Liljencrantz ◽  
Nicholas Madian ◽  
Aaron Necaise ◽  
Justin Tubbs ◽  
...  

AbstractThe sensation of pressure allows us to feel sustained compression and body strain. While our understanding of cutaneous touch has grown significantly in recent years, how deep tissue sensations are detected remains less clear. Here, we use quantitative sensory evaluations of patients with rare sensory disorders, as well as nerve blocks in typical individuals, to probe the neural and genetic mechanisms for detecting non-painful pressure. We show that the ability to perceive innocuous pressures is lost when myelinated fiber function is experimentally blocked in healthy volunteers and that two patients lacking Aβ fibers are strikingly unable to feel innocuous pressures at all. We find that seven individuals with inherited mutations in the mechanoreceptor PIEZO2 gene, who have major deficits in touch and proprioception, are nearly as good at sensing pressure as healthy control subjects. Together, these data support a role for Aβ afferents in pressure sensation and suggest the existence of an unknown molecular pathway for its detection.

Genetika ◽  
2019 ◽  
Vol 51 (3) ◽  
pp. 1139-1149
Author(s):  
Suzana Cvjeticanin ◽  
Milan Terzic ◽  
Dejan Nikolic

Rheumatoid arthritis (RA) is a chronic synovial inflammatory autoimmune disease with multifactorial origin. With epigenetic and genetic mechanisms playing a role in the development of RA, the aim of our study was to evaluate the anthropogenetic variability in tested individuals that were diagnosed with rheumatoid arthritis, and the possible influence of gender in expression of illness. 100 patients with rheumatoid arthritis (RA) and 100 healthy control individuals were evaluated. For the estimation of the degree of recessive homozygosity, the homozygously recessive characteristics (HRC) test was performed testing 20 HRCs. There was a significant difference in the individual variations of 20 HRCs between the individuals of the control group and patients with RA (SX2=135.191; p<0.001). The mean values of the tested HRCs significantly differed between individuals of the control group and RA group (MV?SDControl group-5.97?2.02, MV?SDRA group-7.34?2.00, p=<0.001). There was a decrease in variability in the RA group versus the control group (VRA group=27.19%; VControl group=33.79%).There was significant difference in the frequencies of HRCs between those with and without RA in males (p<0.023) and in females (p<0.001). Our findings pointed to the higher degree of recessive homozygosity along with decreased variability in RA patients compared to a healthy control group. Therefore, it may be assumed that different genes in different proportions have certain influence in the processes responsible for RA susceptibility and its different degrees of expression.


2016 ◽  
Vol 86 (1-2) ◽  
pp. 9-17 ◽  
Author(s):  
Bekir Ucan ◽  
Mustafa Sahin ◽  
Muyesser Sayki Arslan ◽  
Nujen Colak Bozkurt ◽  
Muhammed Kizilgul ◽  
...  

Abstract.The relationship between Hashimoto’s thyroiditis and vitamin D has been demonstrated in several studies. The aim of the present study was to evaluate vitamin D concentrations in patients with Hashimoto’s thyroiditis, the effect of vitamin D therapy on the course of disease, and to determine changes in thyroid autoantibody status and cardiovascular risk after vitamin D therapy. We included 75 patients with Hashimoto’s thyroiditis and 43 healthy individuals. Vitamin D deficiency is defined as a 25-hydroxy vitamin D (25(OH)D3) concentration less than 20ng/mL. Vitamin D deficient patients were given 50.000 units of 25(OH)D3 weekly for eight weeks in accordance with the Endocrine Society guidelines. All evaluations were repeated after 2 months of treatment. Patients with Hashimoto’s thyroiditis had significantly lower vitamin D concentrations compared with the controls (9.37±0.69 ng/mL vs 11.95±1.01 ng/mL, p < 0.05, respectively). Thyroid autoantibodies were significantly decreased by vitamin D replacement treatment in patients with euthyroid Hashimoto’s thyroiditis. Also, HDL cholesterol concentrations improved in the euthyroid Hashimoto group after treatment. The mean free thyroxine (fT4) concentrations were 0.89±0.02 ng/dL in patients with Hashimoto’s thyroiditis and 1.07±0.03 ng/dL in the healthy control group (p < 0.001). The mean thyroid volumes were 7.71±0.44 mL in patients with Hashimoto’s thyroiditis and 5.46±0.63 mL in the healthy control group (p < 0.01). Vitamin D deficiency is frequent in Hashimoto’s thyroiditis and treatment of patients with this condition with Vitamin D may slow down the course of development of hypothyroidism and also decrease cardiovascular risks in these patients. Vitamin D measurement and replacement may be critical in these patients.


1977 ◽  
Vol 37 (02) ◽  
pp. 329-338 ◽  
Author(s):  
Tadahiro Sano ◽  
Takeshi Motomiya ◽  
Hiroh Yamazaki ◽  
Takio Shimamoto

SummaryA new method for assessment of platelet sensitivity to ADP-aggregation was devised. Its reproducibility and the correlations between the values obtained by this method, the optical density (O. D.) method, and the screen filtration pressure (SFP) method were assessed. In summary, this method may be said to have three main points:1. It can be performed without centrifugation, avoiding mechanical stress to platelets, using only 0.8 ml. of blood and inexpensive equipment.2. It may reflect different aspects of platelet function from the O. D. method and the SFP method, despite the positive significant correlations between the values obtained by these three methods.3. It was proved to be highly reproducible and is thought to be useful clinically.By using this method, the effect of sustained isometric exercise by handgripping on platelet aggregability was assessed in coronary sclerotic and cerebral arteriosclerotic patients on placebo and EG-626, a newly synthesized cyclic AMP phosphodiesterase inhibitor. On placebo, an enhancement of platelet sensitivity was observed after isometric exercise in coronary and cerebral arteriosclerotic patients but not in healthy control subjects. The enhancement was prevented by pretreatment of EG-626, administered orally 1.5 hours prior to exercise.


1997 ◽  
Vol 78 (03) ◽  
pp. 0990-0992 ◽  
Author(s):  
Andreas Hillarp ◽  
Bengt Zӧller ◽  
Peter J Svensson ◽  
Bjӧrn Dahlbäck

SummaryA dimorphism in the 3’-untranslated region of the prothrombin gene (G to A transition at position 20210) has recently been reported to be associated with increases in plasma prothrombin levels and in the risk of venous thrombosis (1). We have examined the prothrombin dimorphism among 99 unselected outpatients with phlebography verified deep venous thrombosis, and in 282 healthy controls. The prevalence of the 20210 A allele was 7.1% (7/99) in the patient group, and 1.8% (5/282) in the healthy control group (p = 0.0095). The relative risk of venous thrombosis was calculated to be 4.2 (95% Cl, 1.3 to 13.6), and was still significant when adjustment was made for age, sex and the factor V:R506Q mutation causing APC resistance [odds ratio 3.8 (95% Cl, 1.1 13.2)]. As previously reported, 28% of the patients were carriers of the factor V:R506Q mutation. Thus, 34% (one patient carried both traits) of unselected patients with deep venous thrombosis were carriers of an inherited prothrombotic disorder. To sum up, our results confirm the 20210 A allele of the prothrombin gene to be an important risk factor for venous thrombosis.


2000 ◽  
Vol Volume 26 (Number 01) ◽  
pp. 005-010 ◽  
Author(s):  
Akitada Ichinose ◽  
Masayoshi Souri ◽  
Tomonori Izumi ◽  
Nobumasa Takahashi

2020 ◽  
pp. 4-6

The present study was carried out in the Labs of collage of education for pure science, during period from January 2017 to endDecember of the same year. The immune status investigates for CLpatients by measuring the levels of cytokines (IL6and IL10) in sera using a technique enzyme-linked immune Sorbent adsorptive (ELISA). The study included 120 subjects with (60 CLpatientsL.majar and 60 CLpatients L. tropica with and (30) were healthy control. Increased mean Serum level of IL6 was in the observed in the total patients as compared to control Subjects (224.53pg/ml,70.70pg/ml), the result indicate there was significant difference at (p<0.05) ,such observation was consistent in the patient infected with L.majar and L. tropica (104 .90 pg/ml and 112.78 pg/ml) respectively. The results of the IL10 showed significant difference at (p<0.05)increased of mean Serum level in the total CL patients as compared to control Subjects(226.90 pg/ml 46.77pg/ml,).Ahighly significant difference at (p<0.05) increased observed in patients group infected with L.majar and followed by patients group infected L. tropica (112.78pg/ml and 114.12pg/ml) respectively.These results revealed that the excessive presence of cytokines might play a role in CL patients.


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