Genetic contributions to pain: a review of findings in humans

Pain represents the major motivating factor for which individuals seek healthcare, and pain responses are characterized by substantial inter‐individual differences. Increasing evidence suggests that genetic factors contribute significantly to individual differences in responses to both clinical and experimental pain. The purpose of this review article was to summarize the current literature regarding genetic contributions to pain, highlighting findings relevant to oral pain where available. A brief discussion of methodologic considerations is followed by a review of findings regarding genetic influences on clinical pain. Next, the literature examining genetic contributions to experimental pain responses is presented, emphasizing genetic associations that have been replicated in multiple cohorts. It is hoped that an enhanced understanding of genetic contributions to pain responses will ultimately improve diagnosis and treatment of clinical pain conditions.     

Course of oral lichen planus: a retrospective study of 808 northern Italian patients

Objectives:  To undertake a retrospective inspection of the general features, clinical presentation and outcome of 808 Italian patients with oral lichen planus (OLP), followed up from 6 months to 17 years.
Results:  The mean age was 61 years for women ( n  = 493) and 58 years for men ( n  = 315). More than 20% of the total cases had liver abnormalities ( n  = 164) of which 83.5% infected with hepatitis C virus ( n  = 137). The reticular and plaque form were the predominant type, affecting almost 60% of patients. 12.3% of patients had also extraoral manifestation, taking into account the skin ( n  = 63) and genital ( n  = 24). Symptoms were present in 40% of the total patients. Only less than 2.47% of patients underwent remission, whereas 78% still had oral lesions at the end of the follow-up period. Treatment was directed towards almost 42% of the patients, mainly using topical corticosteroids. Oral squamous cell carcinoma developed in 15 patients, commonly arising on the lateral border of the tongue.
Conclusion:  This is one of the largest groups of OLP patients with such long a follow-up ever reported. We confirm the chronic nature of this disorder, rarely remissive and the treatment intend for alleviating symptoms. OLP is established to be a disease with small frequency of malignant transformation.     

Association of Appendicular Lean Mass,and Subcutaneous and Visceral Adipose Tissue With Mortality in Older Brazilians: The São Paulo Ageing & Health Study

Body composition changes as a result of ageing may impact the survival of older adults. However, its influence on mortality risk is uncertain. Currently, the best method for body composition analysis in clinical practice is DXA. Nonetheless, the few studies on body composition by DXA and mortality risk in the elderly have some limitations. We investigated the association between body composition by DXA and mortality in a cohort of elderly subjects. Eight hundred thirty-nine community-dwelling subjects (516 women, 323 men) ≥ 65 years of age were assessed by a questionnaire, clinical data, laboratory exams, and body composition by DXA at baseline. Total fat and its components (eg, visceral adipose tissue [VAT]) were estimated. Appendicular lean mass (ALM) adjusted for fat and ALM divided by height² was used to ascertain the presence of low muscle mass (LMM). Mortality was recorded during follow-up. Multivariate logistic regression was used to compute ORs for all-cause and cardiovascular mortality. Over a mean follow-up of 4.06 ± 1.07 years, there were 132 (15.7%) deaths. In men, after adjustment for relevant variables, the presence of LMM (OR, 11.36, 95% CI, 2.21 to 58.37, P = 0.004) and VAT (OR, 1.99, 95% CI, 1.38 to 2.87, P < 0.001, for each 100-g increase) significantly increased all-cause mortality risk, whereas total fat, measured by the fat mass index, was associated with decreased mortality risk (OR, 0.48, 95% CI, 0.33 to 0.71, P < 0.001). Similar results were observed for cardiovascular mortality. In women, only LMM was a predictor of all-cause (OR, 62.88, 95% CI, 22.59 to 175.0, P < 0.001) and cardiovascular death (OR, 74.54, 95% CI, 9.72 to 571.46, P < 0.001). LMM ascertained by ALM adjusted for fat and fat mass by itself are associated with all-cause and cardiovascular mortality risk in the elderly. Visceral and subcutaneous fat have opposite roles on mortality risk in elderly men. Thus, DXA is a promising tool to estimate risk of mortality in the elderly. © 2019 American Society for Bone and Mineral Research.     

First Report of Intestinal Myiasis Due To Eristalis tenax in Iran

Eristalis tenax, belonging to order Diptera, family Syrphidae seldomly causes intestinal myiasis. Intestinal myiasis caused by E. tenax larvae is a rare manifestation found in both humans and other vertebrate animals. We report a 22-year-old woman presented with this myiasis. The larva in her stool sample was identified as E. tenax related to its typical morphology and authentic clues. Lack of specific control measures in the domestic water supply system was the most probable cause of this infestation.     

New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami

A variant of von Willebrand disease (vWD) was identified in six members of a kindred spanning four generations. The proband was a 46-year-old woman with a lifelong history of bleeding, a prolonged bleeding time (> 15 minutes), markedly elevated von Willebrand factor (vWF) antigen (vWF:Ag = 2.09 U/mL), slightly reduced ristocetin cofactor activity, and a plasma vWF multimer pattern similar to that of vWD type IIC. Similar findings were observed in her three children, mother, and brother. In affected family members, platelet and plasma vWF multimer patterns were discrepant with higher molecular weight multimers observed in platelet vWF. Following a 1-Des-amino-8-D-arginine vasopressin (DDAVP) challenge, the proband failed to normalize her bleeding time even though vWF: Ag rose by 70% and higher molecular weight multimers were increased slightly. Genetic studies were consistent with autosomal dominant inheritance of a mutation within the vWF gene. By sequencing of cloned genomic DNA, mutations were excluded in exons 4, 5, 14, and 15, which encode regions of the vWF propeptide proposed to be important in multimer biosynthesis. Mutations also were excluded in exons 28 to 31, which encompass the known mutations that cause vWD types IIA, IIB, and B. This new variant of vWD, characterized by autosomal dominant inheritance, a qualitative defect that resembles vWD type IIC, and increased plasma vWF:Ag, was tentatively designated vWD type IIC Miami.     

Impaired renal allograft,but not patient survival,in patients with antibodies to hepatitis C virus

Background The impact of hepatitis C virus (HCV) infection in renal transplant patients is controversial and there are no data on the outcome of renal transplantation in this sub-group of Irish patients. Aim To examine the outcome of renal transplantation in patients with hepatitis C. Methods We examined the outcome of first grafts from renal transplant patients with hepatitis C antibody positive and compared them to a control group. During this period, 24 HCV positive patients received 33 grafts. All were treated with standard immunosuppression. Results Graft survival rate was less in the HCV positive cases (p=0.0087). Graft survival at 1 year was 75% in the HCV positive group versus 85% in the HCV negative group, 40% versus 62% at 5 years and 14% compared with 40% at 10 years. Patient survival was similar in both groups (p=0.78). Patient survival at 1 year was 96% versus 94%, 87% versus 80% at 5 years and 70% in both groups at 10 years. Conclusion In the Irish renal transplant population, the presence of hepatitis C antibodies, before or after transplantation is associated with worse long-term graft, but not patient survival.