There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibrosis (CF) in terms of reduced disease severity, improved quality of life, lower treatment burden, and ...reduced costs. More and more countries in the world are introducing NBS for CF as a national preventive health program. Newborn screening for CF was introduced in the Republic of North Macedonia (RNM) in April, 2019, after a pilot study of 6 months in 2018. A two-step immunoreactive trysinogen (IRT-IRT) algorithm is performed, and then a sweat test for confirmation/exclusion of the CF diagnosis when the IRT values were both over the cutoff (70.0 and 45.0 ng/mL, respectively). In cases with confirmed diagnosis of CF (a sweat chloride concentration >60.0 mmol/L) or with intermediate sweat test results (a sweat chloride concentration of between 30.0 and 59.0 mmol/L), CF transmembrane conductance regulator (CFTR) mutation analysis is performed. By the end of 2020, over a period of 27 months, including the pilot study period, a total number of 43,139 newborns were screened for CF. Seventeen (0.039%) newborns were diagnosed with CF. In all newly discovered CF cases by screening, the diagnosis was confirmed by determination of the CFTR mutations. The most common CFTR mutation, F508del, was found with an overall incidence of 70.6%. Other more frequent mutations were G542X (11.8%) and N1303K (5.9%). Four mutations were found in one CFTR allele each: G1349D, G126D, 457TAT>G and CFTRdupexon22, with the last one being newly discovered with unknown consequences. An incredibly large difference was found in the incidence of the disease between the Macedonian and Albanian neonatal population, with almost four time higher prevalence among Albanians (1:4530
. 1:1284).
Psychological profile in oral lichen planus Ivanovski, Kiro; Nakova, Marija; Warburton, Gary ...
Journal of clinical periodontology,
October 2005, Letnik:
32, Številka:
10
Journal Article
Recenzirano
Aim: Oral lichen planus (OLP) is an oral lesion with an enigmatic etiology. To explore the possibility of psycho‐somatization, we evaluated the psychological personality profiles of OLP patients.
...Methods: Twenty patients with reticular; 20 with erosive form of OLP, and 25 controls were tested with the psychological Minnesota Multiphasic Personality Inventory (MMPI)‐202 test. Eight clinical scales (hypochondriasis, depression, hysteria, psychopathic deviate, paranoia, psychasthenia, schizophrenia, and hypomania) as well as cortisol level, CD3, CD4, CD8, and CD16 markers by group were compared. Psychosomatization was evaluated by the use of internalization ratio (IR) Index.
Results: A characteristic MMPI profile was noted in the OLP groups with high IR index value. Significant differences among the groups were detected for cortisol, CD4, CD8, and CD16 counts. Mean values for hypochondriasis, depression, and hysteria were all significantly different with significantly higher mean scores for both reticular and erosive OLP subjects compared with controls.
Conclusions: Prolonged emotive stress in many OLP patients may lead to psychosomatization and may contribute to the initiation and clinical expression of this oral disorder.
Clinical significance: If additional research involving a larger and more diverse sample of patients confirms these findings, clinical trials will be needed to determine whether adjunctive psychological intervention provides a benefit in treating patients with OLP.
Examination of the composition of saliva in patients with diabetes may be useful for understanding why oral manifestations occur and how they should be treated. The purpose of this study was to ...determine the degree of severity of xerostomia, salivary concentrations of glucose and urea in patients with insulin-dependent diabetes, and to determine the correlation between xerostomia and salivary glucose levels. For the realization of this goal, the study included 60 patients of both sexes aged 30-70 years. The sample was divided into two groups. The first, experimental, group consisted of 30 patients who had insulin-dependent diabetes mellitus. The control group consisted of 30 subjects who were not suffering from diabetes. To determine the degree of severity of xerostomia among all respondents a questionnaire recommended by Carda was used. From all patients in both the control and experimental group, total saliva was collected for 10 minutes for biochemical analysis in accordance with the recommendations of Navazesh. Salivary glucose was determined by using the enzymatic method with a hexokinase (mmol/l), and salivary urea by using the kinetic method with urease and glutamate dehydrogenase (mmol/l). Varying degrees of xerostomia were noticed in 80% of the experimental group and only 10% of the control group. In diabetics, we found significantly higher levels of urea (2.36 mmol/l) and glucose (0.022 mmol/l) in the saliva compared with the values of these parameters (1.48 mmol/l, 0017 mmol/l) in the control group. Based on these results, we concluded that diabetes is a disease that causes xerostomia and there is a significant correlation between the degree of xerostomia and the salivary level of glucose.
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