6 research outputs found
Outcome of Penetrating Keratoplasty (PKP) and Redo PKP among Jordanian Population
Background: The success of penetrating keratoplasty (PKP) is determined by the duration of graft survival, which is the time to graft failure. Our study aims to identify various indications of corneal graft among our Jordanian population, their success rate as well as spotting the light on cases of re-grafting. Methods: In this study, we analyzed data for patients who had PKP as well as re-do PKP in the period from January 2014 to June 2017. For each study eye, we identified pre-operative visual acuity as well as visual acuity at six months and one year. We also focused on the specific indication for PKP, the surgical procedure and graft clarity at one year post-op. On SPSS statistical analysis software, we used repeated measure ANOVA, Pearson correlations, and Fischer’s exact test to analyze our study’s variables.Results: We included a total of 230 patients in this study with a mean age of 34.22 (±19.32). They were 112 (48.7%) males and 118 (±51.3%) females. We found a significant difference in mean age and outcome (p< 0.001), as the mean age for patients with successful PKP was 31.55 (±16.55) compared to 44.1 (±25.1) for patients with failed PKP. the success rate for patients with KC as an indication was 96.7% compared to only 58.3% for other indications. We found that failure rate in redo surgeries was significantly higher than first time surgeries.Conclusion: Among the Jordanian population, we found that Keratoconus was the main indication for PKP in our population, where we also found that it was associated with the best prognosis
Association of IL-4 Polymorphisms with Allergic Rhinitis in Jordanian Population
Background and objectives: Allergic rhinitis has complex patterns of inheritance, and single nucleotide polymorphisms, a common genetic variation in a population, exert a significant role in allergic rhinitis pathology. The current study aimed to investigate the association of Interleukin-4 (IL-4) polymorphisms with allergic rhinitis. Materials and Methods: Our study included 158 patients with allergic rhinitis and 140 healthy controls from Jordan that were genotyped for IL-4 single nucleotide polymorphisms (SNPs) C-589T (rs2243250) and T-2979G (rs2227284) using restriction fragment length polymorphism-polymerase chain reaction. Statistical analysis was conducted using IBM SPSS Statistics version 24 software. Results: The results showed that the allelic frequency of the minor alleles was 0.19 and 0.67 for C-589T (rs2243250) and T-2979G (rs2227284) in the allergic rhinitis patients, respectively, while it was 0.18 for C-589T (rs2243250) and 0.64 T-2979G (rs2227284) in the control group. The homozygous (TT) genotype of C-589T (rs2243250) was significantly associated with allergic rhinitis (p < 0.05), while there was no association of any of T-2979G (rs2227284) genotypes with allergic rhinitis. Conclusions: The results of this study indicate that genetic inter-population variation precipitates the differences in the percentages of many diseases among populations, including allergic rhinitis
Association of <em>IL-4</em> Polymorphisms with Allergic Rhinitis in Jordanian Population
Background and objectives: Allergic rhinitis has complex patterns of inheritance, and single nucleotide polymorphisms, a common genetic variation in a population, exert a significant role in allergic rhinitis pathology. The current study aimed to investigate the association of Interleukin-4 (IL-4) polymorphisms with allergic rhinitis. Materials and Methods: Our study included 158 patients with allergic rhinitis and 140 healthy controls from Jordan that were genotyped for IL-4 single nucleotide polymorphisms (SNPs) C-589T (rs2243250) and T-2979G (rs2227284) using restriction fragment length polymorphism-polymerase chain reaction. Statistical analysis was conducted using IBM SPSS Statistics version 24 software. Results: The results showed that the allelic frequency of the minor alleles was 0.19 and 0.67 for C-589T (rs2243250) and T-2979G (rs2227284) in the allergic rhinitis patients, respectively, while it was 0.18 for C-589T (rs2243250) and 0.64 T-2979G (rs2227284) in the control group. The homozygous (TT) genotype of C-589T (rs2243250) was significantly associated with allergic rhinitis (p Conclusions: The results of this study indicate that genetic inter-population variation precipitates the differences in the percentages of many diseases among populations, including allergic rhinitis
The Quantum Tunneling of Ions Model Can Explain the Pathophysiology of Tinnitus
Tinnitus is a well-known pathological entity in clinical practice. However, the pathophysiological mechanisms behind tinnitus seem to be elusive and cannot provide a comprehensive understanding of its pathogenesis and clinical manifestations. Hence, in the present study, we explore the mathematical model of ions’ quantum tunneling to propose an original pathophysiological mechanism for the sensation of tinnitus. The present model focuses on two major aspects: The first aspect is the ability of ions, including sodium, potassium, and calcium, to depolarize the membrane potential of inner hair cells and the neurons of the auditory pathway. This membrane depolarization is induced via the quantum tunneling of ions through closed voltage-gated channels. The state of membrane depolarization can be a state of hyper-excitability or hypo-excitability, depending on the degree of depolarization. Both of these states aid in understanding the pathophysiology of tinnitus. The second aspect is the quantum tunneling signals between the demyelinated neurons of the auditory pathway. These signals are mediated via the quantum tunneling of potassium ions, which exit to the extracellular fluid during an action potential event. These quantum signals can be viewed as a “quantum synapse” between neurons. The formation of quantum synapses results in hyper-excitability among the demyelinated neurons of the auditory pathway. Both of these aspects augment and amplify the electrical signals in the auditory pathway and result in a loss of the spatiotemporal fidelity of sound signals going to the brain centers. The brain interprets this hyper-excitability and loss of spatiotemporal fidelity as tinnitus. Herein, we show mathematically that the quantum tunneling of ions can depolarize the membrane potential of the inner hair cells and neurons of the auditory pathway. Moreover, we calculate the probability of action potential induction in the neurons of the auditory pathway generated by the quantum tunneling signals of potassium ions
Vitamin D Levels in Children with Recurrent Acute Tonsillitis in Jordan: A Case-Control Study
Background: Vitamin D is essential for many functions of the body. In addition to its primary function of regulating the absorption of calcium in the small intestine, its role in the immune system has recently been studied. The current study aimed to test the impact of vitamin D deficiency on the rate of recurrent acute tonsillitis in children. Methods: According to Paradise criteria, two hundred forty-two children with recurrent acute tonsillitis were recruited. A group of healthy children (n = 262) was also recruited as controls. Poisson regression was run to predict the number of tonsillitis episodes per year based on vitamin D levels. The mean vitamin D level in the study group was lower than in the control group (p < 0.0001). Poisson regression of the rate of recurrent tonsillitis and vitamin D level (OR = 0.969 (95% CI, 0.962–0.975)) showed that for every single unit increase in vitamin D level, there was a 3.1% decrease in the number of tonsillitis episodes per year (p < 0.0001). Conclusions: Vitamin D deficiency is associated with higher rates of recurrent acute tonsillitis. Future controlled trials should investigate the role of vitamin D supplementation in reducing the rate of recurrent tonsillitis
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
International audienceAbstract Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable OFD type 2, we identified distinct germline variants in INTS13 , a subunit of the Integrator complex. This multiprotein complex associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. We determined that INTS13 utilizes its C-terminus to bind the Integrator cleavage module, which is disrupted by the identified germline variants p.S652L and p.K668Nfs*9. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Accordingly, its knockdown in Xenopus embryos leads to motile cilia anomalies. Altogether, we show that mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the Integrator complex