69 research outputs found
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
No full textAge-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and molecular level. In particular, 46 candidate genes, selected on the basis of genome-wide association studies (GWAS), animal models and literature updates, were analyzed by targeted re-sequencing. After filtering and prioritization steps, SLC9A3R1 has been identified as a strong candidate and then validated by "in vitro" and "in vivo" studies. Briefly, a rare (MAF: 2.886e-5) missense variant c.539G > A, p.(R180Q) was detected in two unrelated male patients affected by ARHL characterized by a severe to profound high-frequency hearing loss. The variant, predicted as damaging, was not present in healthy matched controls. Protein modeling confirmed the pathogenic effect of p.(R180Q) variant on protein's structure leading to a change in the total number of hydrogen bonds. In situ hybridization showed slc9a3r1 expression in zebrafish inner ear. A zebrafish knock-in model, generated by CRISPR-Cas9 technology, revealed a reduced auditory response at all frequencies in slc9a3r1R180Q/R180Q mutants compared to slc9a3r1+/+ and slc9a3r1+/R180Q animals. Moreover, a significant reduction (5.8%) in the total volume of the saccular otolith (which is responsible for sound detection) was observed in slc9a3r1R180Q/R180Q compared to slc9a3r1+/+ (P = 0.0014), while the utricular otolith, necessary for balance, was not affected in agreement with the human phenotype. Overall, these data strongly support the role of SLC9A3R1 gene in the pathogenesis of ARHL opening new perspectives in terms of diagnosis, prevention and treatment
Effect of Glass and Banana Fiber Mat Orientation and Number of Layers on Mechanical Properties of Hybrid Composites
No full textPrevalence and factors associated with diabetes-related distress among patients with type 2 diabetes mellitus in a South Indian secondary care hospital
No full textBackground: Diabetes related distress (DRD), though well known, is under-recognized in the Indian subcontinent. Existing literature is mostly from tertiary or teaching hospitals located in urban areas. The prevalence and determinants of DRD among non-urban settings is not well known. This study aims to fill this knowledge gap by investigating the same among patients with type 2 diabetes mellitus (T2DM) in a South Indian secondary care hospital.
Methods: 227 consecutive patients with T2DM were administered pre-validated diabetes distress scale questionnaire and their responses documented. The prevalence of distress in each of the four domains and as a whole was measured and the association with various factors were identified using appropriate statistical methods.
Results: 165 (72.7%), 164 (72.2%), 176 (77.5%) and 155 (68.3%) of patients experienced emotional distress, physician-related distress, regimen-related distress and interpersonal distress respectively. Overall, 165 (72.7%) had clinically significant diabetes-related distress in the study. Occurrence of hypoglycemic episodes (p 0.02), having high body mass index (BMI) (p 0.03) and non-adherence to a diet plan (p 0.03) were associated with increased distress in various domains.
Conclusions: Three out of four (165/227; 72.7%) adult patients living with T2DM reported experiencing DRD, a significantly higher prevalence than shown in previous studies. This highlights the need to incorporate DRD screening and management as part of routine care of T2DM. Prevalence of DRD was higher among patients who experienced hypoglycemia episodes in the month prior to the assessment. Scrupulous avoidance of hypoglycemia may help to reduce DRD among patients living with T2DM
Path Double Covering Number of Product Graphs
No full textA path partition or a path cover of a graph G is a collection P of paths in G such that every edge of G is in exactly one path in P. Various types of path covers such as Smarandache path k-cover, simple path covers have been studied by several authors by imposing conditions on the paths in the path covers. In this paper, We study the minimum number of paths which cover a graph such that each edge of the graph occurs exactly twice in two(distinct) paths
Mechanical behaviors of aluminum filler and jute fiber mat reinforced epoxy hybrid composites
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Patient satisfaction toward doctor communication in medical clinics: a study from northern Sri Lanka
No full textA good medical practice involves good communication between the patient and the doctor. Inadequate communication is a significant factor in determining patients’ discontentment and frustration, which ultimately leads to poor healthcare quality. This is an outpatient clinic-based cross-sectional study, conducted among medical clinic patients in northern Sri Lanka. Data were collected systematically from randomly sampled patients. Of 407 patients who participated, the significant proportion (36.4%) were above the age group of 60 and 57.2% were females. The large proportion of patients (33.9%) had completed their tertiary education and most of the participants were unemployed (37.6%) or laborers (20.9%). The majority of patients (96.6%CI: 94.4–98.0%) were satisfied with the doctor communication. However, a significant proportion of patients reported that the doctor did not give time for further questions (44.1%). Furthermore, patients who were unaccompanied to the consultation showed higher satisfaction levels than those who attended with bystanders (P < 0.001). Longer waiting time was negatively associated with patients’ satisfaction levels (P = 0.008). Patients’ trust level regarding doctors was high, with a mean score of 8.82 with SD = 1.44 on a 1–10 scale. Trust-level scores varied significantly with the level of satisfaction regarding doctor communication (P < 0.001). In this study, patients’ satisfaction level regarding doctor communication skills was high. Waiting time and the presence of bystanders during the consultation were negatively associated with respect to satisfaction levels. Furthermore, patient satisfaction can be promoted by reducing the waiting time and addressing bystanders’ concerns
A note on isolate domination
No full textA set of vertices of a graph such that has an isolated vertex is called an \emph{isolate set} of . The minimum and maximum cardinality of a maximal isolate set are called the \emph{isolate number} and the \emph{upper isolate number} respectively. An isolate set that is also a dominating set (an irredundant set) is an . The \emph{isolate domination number} and the \emph{upper isolate domination number} are respectively the minimum and maximum cardinality of a minimal isolate dominating set while the \emph{isolate irredundance number} and the \emph{upper isolate irredundance number} are the minimum and maximum cardinality of a maximal isolate irredundant set of . The notion of isolate domination was introduced in \cite{sb} and the remaining were introduced in \cite{isrn}. This paper further extends a study of these parameters. </p
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