No abstract

Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultrastructural defects and mutations identified in >20 genes. Next generation sequencing (NGS) technologies therefore present a promising approach for genetic diagnosis which is not yet in routine use. We developed a targeted panel-based NGS pipeline to identify mutations by sequencing of selected candidate genes in 70 genetically undefined PCD patients. This detected loss-of-function RSPH1 mutations in four individuals with isolated central pair (CP) agenesis and normal body laterality, from two unrelated families. Ultrastructural analysis in RSPH1-mutated cilia revealed transposition of peripheral outer microtubules into the ‘empty’ CP space, accompanied by a distinctive intermittent loss of the central pair microtubules. We find that mutations in RSPH1, RSPH4A and RSPH9, which all encode homologs of components of the ‘head’ structure of ciliary radial spoke complexes identified in Chlamydomonas, cause clinical phenotypes that appear to be indistinguishable except at the gene level. By high-resolution immunofluorescence we identified a loss of RSPH4A and RSPH9 along with RSPH1 from RSPH1-mutated cilia, suggesting RSPH1 mutations may result in loss of the entire spoke head structure. CP loss is seen in up to 28% of PCD cases, in whom laterality determination specified by CP-less embryonic node cilia remains undisturbed. We propose this defect could arise from instability or agenesis of the ciliary central microtubules due to loss of their normal radial spoke head tethering.

Our results support the hypothesis that the nasal microbiome is involved in development of early-onset rhinitis and wheeze in infants.

Ciliary function studies for the diagnosis of primary ciliary dyskinesia (PCD) are usually performed on nasal brush biopsy samples. It is not uncommon to find disrupted epithelial strips of tissue in these samples, and occasionally throughout a sample. The aim of the present study was to determine if cilia on disrupted ciliated epithelial edges beat with a normal pattern and frequency similar to that of cilia on undisrupted edges.Nasal brush biopsy samples from 42 children in whom the diagnosis of PCD was excluded were assessed. The epithelial strips were categorised into five groups: intact undisrupted ciliated epithelial edge, ciliated epithelial edge with minor projections, ciliated epithelial edge with major projections, an isolated ciliated cell on an epithelial edge and single unattached ciliated cells. Ciliary beat frequency and beat pattern of 50 samples from each group were determined using high speed digital video microscopy.The cilia on epithelial edges with varying degrees of disruption showed significantly reduced beat frequency and significantly increased dyskinesia compared with those on intact, undisrupted ciliated epithelial edges.Ideally, the assessment of ciliary beat pattern and frequency for PCD diagnosis should only be performed on undisrupted ciliated edges.

Nitric oxide (NO) is not only important in host defense and homeostasis but it is also regarded as harmful and has been implicated in the pathogenesis of a wide variety of inflammatory and autoimmune diseases. The presence of NO in periodontal disease may reflect the participation of an additional mediator of bone resorption responsible for disease progression. The aim of this study was to assess the level of NO in serum in chronic periodontitis, and correlate these levels with the severity of periodontal disease. Sixty subjects participated in the study and were divided into two groups. NO levels were assayed by measuring the accumulation of stable oxidative metabolite, nitrite with Griess reaction. Results showed subjects with periodontitis had significantly high nitrite in serum than healthy subjects. NO production is increased in periodontal disease, this will enable us to understand its role in disease progression and selective inhibition of NO may be of therapeutic utility in limiting the progression of periodontitis.

Periodontal disease is a chronic adult condition. Bacteria implicated in the etiology of this disease causes destruction of connective tissue and bone. As a result of stimulation by bacterial antigen PMN produces free radicals via respiratory burst as a part of host response to infection. Patients with periodontal disease display increased PMN number and activity. This proliferation results in high degree of free radical release culminating in heightened oxidative damage to gingival tissues, periodontal ligament and alveolar bone. Damage mediated by free radicals can be mitigated by “ANTIOXIDANT DEFENSE SYSTEM “. Physiological alteration and pathological states produced by free radicals depend on disequilibrium between free radical production and antioxidant levels leading to oxidative stress.Hence this study has been designed to estimate the TOTAL ANTIOXIDANT CAPACITY in patients with PERIODONTITIS and healthy control subjects

Background and Objectives:A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP), maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP). In the case of multiple tooth-malpositions, transverse deficiency, arch length deficiency and primary cross-bite; periodontal trauma increases and is detrimental to periodontal health. According to literature, a critical periodontal situation was found in patients with CLAP. Hence a study was conducted to analyze the periodontal status of patients with cleft lip (CL); those with cleft palate; and those with cleft lip, alveolus and palate.Materials and Methods:The present study consisted of 60 cleft subjects divided into 3 groups: those with cleft lip; those with cleft palate; and those with cleft lip, alveolus and palate. Subjects with permanent dentition were selected, and the clinical examination included determination of oral hygiene status using Oral Hygiene Index — Simplified (OHI-S) index and periodontal status using community periodontal index (CPI).Results:Statistically significant increase in the periodontal disease in the CLAP group as compared with the other 2 groups, and the oral hygiene was seen to be generally poor with the CLAP group.Interpretation and Conclusion:Individuals with clefts are more prone to periodontal disease due to the presence of cleft, which causes retention of food in the defect sites and inability to maintain good oral hygiene; but the severity of periodontal disease is more if the defect is large and involving the lip, alveolus and palate.

Background:Periodontal diseases are microbial induced chronic inflammatory conditions characterized by infiltration of leukocytes, loss of connective tissue, alveolar bone resorption, and formation of periodontal pockets. In response to periodontal pathogens, the leukocytes (PMN) elaborate destructive oxidants, proteinases and other factors. The balance between these factors, the antioxidants and endogenously synthesized antiproteinases determine the extent of periodontal damage. Diabetes mellitus is a metabolic disorder. Most of the complications of diabetes are due to hyperglycemia. Persons with diabetes are at a greater risk for periodontal disease Malnutrition is characterized by marked tissue depletion of antioxidant nutrients and impaired acute phase protein response to infections resulting in impaired healing. Diabetes mellitus also alters the micronutrient levels. Malnutrition is characterized by marked tissue depletion of antioxidant nutrients and impaired acute phase protein response to infections resulting in impaired healing. Malnutrition, which usually involves concomitant deficiencies of several essential macro and micro nutrients, therefore, has the potential to adversely influence the prognosis of periodontal infections. Objectives:This study has been conducted to evaluate and compare the serum levels of vitamin C, zinc and copper in diabetic and healthy individuals with periodontitis.Materials and Methods:In this case control study 60 subjects inclusive of both sexes were selected and divided into 3 groups of 20 each. Group 1 comprised of 20 subjects with type 2 diabetes mellitus and periodontal disease, Group 2 comprised of 20 healthy subjects with periodontal disease. And Group 3 comprised of 20 healthy subjects without periodontal disease. Venous blood samples were collected and centrifuged at 3000rpm for 15 minutes and the superanatant serum is collected to measure the vitamin C, zinc and copper levels. The vitamin C levels of clinical samples were measured using spectrophotometric quantitation (dinitrophenyl hydrazine method) and zinc and copper levels were measured using atomic absorption spectrophotometry.Results:The results showed that the levels of vitamin C and zinc decreased and copper levels increased in diabetic patients with periodontits compared to healthy individuals with periodontitis.Conclusion:It may be reasonable to suggest vitamin and/or mineral supplements for patients whose nutrition might be inadequate. Future research should focus on an evaluation of which nutrients may help to prevent the onset and progression of periodontal disease