Indicator Of Genetic Susceptibility Research Articles

Characterization of migraineurs presenting interictal widespread pressure hyperalgesia identified using a tender point count: a cross-sectional study

BackgroundMigraineurs exhibit pain hypersensitivity throughout the body during and between migraine headaches. Migraine is classified as a central sensitivity syndrome, typified by fibromyalgia showing widespread pressure hyperalgesia determined by a tender point. This study was performed to examine whether: 1) there is a subgroup of episodic migraineurs with widespread pressure hyperalgesia during and between attacks; 2) if such a subgroup exists, what is the prevalence and what is the difference between groups with interictal widespread hyperalgesia and acute allodynia regarding the demographic and clinical characteristics of migraine.MethodsThis was a cross-sectional study. A total of 176 consecutive episodic migraineurs and 132 age- and sex-matched controls were recruited. The presence of widespread pressure hyperalgesia was investigated using manual tender point survey. To classify a subject’s response as widespread pressure hyperalgesia, the cutoff value for responders was defined as the positive tender point count below which 95% of controls responded.ResultsBased on the number of positive tender points in controls, the cutoff value of tender point count for pressure hyperalgesia responders was 7. Of the 176 subjects, interictal widespread pressure hyperalgesia and acute allodynia were observed in 74 (42%) and 115 (65.3%) patients, respectively. Univariate analysis indicated that risk factors associated with interictal widespread pressure hyperalgesia were female gender, younger age at migraine onset, higher frequency of migraine attacks, severe headache impact, cutaneous allodynia and depression. Multivariate logistic regression analysis confirmed that independent risk factors associated with interictal widespread pressure hyperalgesia were female gender, higher frequency of migraine attack and younger age at onset.ConclusionInterictal widespread pressure hyperalgesia was common (42%) in the episodic migraineurs and was associated with younger age at onset, female gender, and higher frequency of headache, but not duration of migraine illness. Presence of interictal widespread pressure hyperalgesia is assumed to be an indicator of genetic susceptibility to migraine attacks. We expect that a tender point count, as an alternative to quantitative sensory testing, will become useful as a diagnostic indicator of interictal hyperalgesia in migraineurs to predict susceptibility to migraine attacks and to permit tailored treatment.

Dermatoglyphics (finger prints) as predilection marker for impacted teeth: A randomized blind trial

Impacted teeth are teeth which remain embedded in the jaws past their normal eruption time or which have been blocked from their normal eruption path because of crowding of adjacent teeth or lack of enough jaw size to accommodate their eruption. Impacted teeth can cause a number of problems if left in place. Dermatoglyphics is the study of skin patterns and finger ridges that present on the fingers, toes and the soles. Fingerprint patterns of both hands were analyzed among ten patients with impacted teeth seen clinically and radiographically and equal number of healthy subjects. This study showed that tented arch pattern in index fingers of both the hands has been observed in impacted subjects thus serving as an indicator of genetic susceptibility in the incidence of dental impaction.

Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases

Background:In most Western populations, 5–10% of all breast cancer cases can be attributed to major genetic factors such as predisposing mutations in BRCA1 and BRCA2, with early-onset cases generally considered as an indicator of genetic susceptibility. Specific BRCA1 and BRCA2 mutations or different mutation frequencies have been identified in specific populations and ethnic groups. Previous studies in Greek breast and/or ovarian cancer patients with family history have shown that four specific BRCA1 mutations, c.5266dupC, G1738R, and two large genomic rearrangements involving deletions of exons 20 and 24, have a prominent function in the population's BRCA1 and BRCA2 mutation spectrum.Methods:To estimate the frequency of the above mutations in unselected Greek breast cancer women, we screened 987 unselected cases independently of their family history, collected from major Greek hospitals.RESULTS: Of the 987 patients, 26 (2.6%) were found to carry one of the above mutations in the BRCA1 gene: 13 carried the c.5266dupC mutation (1.3%), 6 carried the exon 24 deletion (0.6%), 3 carried the exon 20 deletion (0.3%), and 4 carried the G1738R mutation (0.4%). Among 140 patients with early-onset breast cancer (<40 years), 14 carried one of the four mutations (10.0%).Conclusion:These results suggest that a low-cost genetic screening for only the four prominent BRCA1 mutations may be advisable to all early-onset breast cancer patients of Greek origin.

Low prevalence of p-ANCA in unaffected relatives of patients with ulcerative colitis from a mediterranean area

: Antineutrophil-cytoplasmic-autoantibodies (p-ANCA) are strongly associated with ulcerative colitis (UC) and may represent an indicator of genetic susceptibility to UC. To further examine whether p-ANCA may serve as a genetic marker of UC we evaluated the frequency of p-ANCA in unaffected family members of UC from a defined geographic area. A total of 110 patients with UC and 90 unaffected family members (first- or second-degree relatives) were tested. Controls included: 58 Crohn's disease (CD) patients with 25 unaffected relatives and 52 irritable bowel syndrome (IBS) patients with 20 healthy family members. p-ANCA were detected by enzyme-linked immunoassay followed by immunofluorescence. p-ANCA were detected in 57 UC patients (51.8%). Six of 90 (6.6%) unaffected relatives were positive for p-ANCA and 4 of these were from two families. In 3 of 35 families the proband and at least one unaffected relative were p-ANCA-positive. In five families with more than one member affected by UC, p-ANCA were detected in 2 of 19 (10.5%) unaffected relatives. Six CD patients (10.3%) and one (1.9%) in the IBS group were positive for p-ANCA. One family member was positive in the CD family group and 1 was positive in the control family group. In the group of families recruited for this study, p-ANCA were not more frequent in unaffected relatives of UC patients than in controls, suggesting that at least in the geographic area considered for this study p-ANCA may not represent a definite subclinical marker of susceptibility for UC.