Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.

OBJECTIVE: Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant inherited disease, characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems with variable expressivity. The purpose of this study was to identify genetic etiology of an ALSG family. MATERIALS AND METHODS: We recruited a Turkish family with ALSG and performed a mutational analysis, based on the candidate gene approach, to clarify the molecular genetic etiology. RESULTS: The candidate gene sequencing of the FGF10 gene identified a novel heterozygous nonsense mutation (c.237G > A, p.Trp79*) in the exon 1. CONCLUSION: The identified novel mutation would result in a haploinsufficiency of the FGF10, because of nonsense-mediated mRNA decay caused by a premature stop codon. This report further confirms that ALSG is caused by the haploinsufficiency of functional FGF10. CLINICAL RELEVANCE: Identification of the genetic etiology of the ALSG will help both the family members and dentist understand the nature of the disorder. Therefore, it will positively motivate oral health care to avoid further destruction of the tooth due to the lack of salivary production.

Fibromyalgia incidence among patients with hepatitis B infection.

AIM: The purpose of our investigation was to evaluate the incidence of fibromyalgia syndrome (FMS) and identify FMS-related clinical symptoms in hepatitis B virus (HBV) patients. METHODS: One hundred and eighteen HBV surface antigen (HbsAg)-positive patients (40 with chronic active hepatitis B, 40 hepatitis B carriers and 38, all of whom had been antiretroviral-treated for at least 3 months) were included in this study. In addition, 60 age- and gender-matched HbsAg-negative healthy controls were included in the study. RESULTS: There was no significant difference in age, gender or body mass index (BMI) between the two groups (P > 0.05). Serum aspartate aminotransferase and alanine aminotransferase levels were significantly higher in HBV patients relative to the control group (P < 0.05). The incidence of FMS, widespread body pain, fatigue, sleep disturbance, anxiety, morning stiffness, arthralgia was significantly greater among HBV patients relative to the control group. Additionally, the mean tender point counts and the visual analog scale values were significantly higher among the HBV patients (P < 0.05). CONCLUSIONS: The results of the present study demonstrate that FMS incidence is greater among HBV patients relative to control subjects. However, there were no differences in FMS incidence among the subgroups of HBV diagnoses.

High Frequency of Fibromyalgia in Patients With Acne Vulgaris.

OBJECTIVES: This study aims to investigate the frequency of fibromyalgia syndrome and to specify fibromyalgia syndrome-associated clinical symptoms in patients with acne vulgaris. PATIENTS AND METHODS: Eighty-eight patients (28 males, 60 females; mean age 23.2±5.1 years; range 18 to 40 years) with acne vulgaris and age, sex- and body mass index-similar 76 healthy controls (14 males, 62 females; mean age 24.5±2.9 years; range 18 to 35 years) were included. Acne vulgaris was evaluated by using the Global Acne Scale, while Hospital Anxiety and Depression Scale was used to evaluate anxiety. RESULTS: Fibromyalgia-associated pain, sleep disturbance, anxiety, and menstrual cycle disturbance were significantly more frequent in patients with acne vulgaris than controls. Also, the severity of anxiety and the number of tender points were significantly higher in the acne vulgaris patients than controls. CONCLUSION: This study indicates that patients with acne vulgaris have increased frequency of fibromyalgia syndrome than healthy controls (21.6% versus 5.3%, respectively).

Are primary health care workers aware of cervical cancer risk?

BACKGROUND: We here examined the awareness of female health employees (doctors, nurses, midwives) working in primary health care service about cervical cancer and its risk factors. Additionally attitude and behavior for gynecologic examination and pap smear screening were researched. MATERIALS AND METHODS: This cross-sectional, descriptive study concerned female health employees working at primary health care services in two southern cities of Turkey, over a four month period in 2013. Participants were recently or previously sexually active research was explained and verbal informed consent was obtained face to face. The questionnaire consisted of two parts; socio-demographic characteristics and level of knowledge about cervical cancer and its risk factors. RESULTS: The average age of the participants (midwives 43.7%, n=143; nurses 40.4%, n=132; doctors 6.4%, n=21; emergency medical technicians and others, 9.5%, n=31; total, n=327) was 30.9±6.41 years. 64.2% (n=210) were working in Diyarbakir and 35.8% (n=117) in Batman. A large proportion reported low knowledge and inadequate screening practice Conclusions: Health employees should be better informed about the importance of screening for cancers, given their preventive roles for the general population.

A microbiological assessment of the oral hygiene of 24-72-month-old kindergarten children and disinfection of their toothbrushes.

BACKGROUND: The objective of this study is to assess the index of decayed, missing and filled teeth (DMF-T), habit of brushing teeth, and the microbiological agents accumulating on the children's toothbrushes for 4 weeks and response of these agents to disinfection via a chlorhexidine solution, then compare those results with the education and income levels of the children's parents. METHOD: Included in the study were 187 children (96 in the control group and 91 in the experiment group - chlorhexidine) chosen randomly from 600 kindergarten children whose ages ranged from 24 months to 72 months. The children selected had not taken any antibiotics, antimicotics for three months and dental treatments during this trial. The distribution of these children to the groups was also done randomly. After performing a survey for the education, occupation, and income status of the parents, the children were examined and the number of decayed teeth was recorded. The children were given toothbrushes, toothpaste (with fluroide), and the solutions (including distilled water and chlorhexidine) for four weeks under the condition that toothbrushes were returned at the end of each week. The 14 different microbiological agents observed as a result of the assessment of the samples taken in the first week were also included in the assessments of the samples taken over the four-week period. RESULTS: The decrease in the DMF-T index was found to be meaningful according to the differences in education, income, and occupation status of the parents. Of all the samples taken from the toothbrushes, the bacteria with the greatest rate of reproduction included Streptococcus mutans, Escherichia Coli, Pseudomonas aeuroginosa, Enterococcus spp, Staphylococcus epidermidis and Candida albicans. Except for Candida albicans, the other microorganisms taken as samples from the toothbrushes reproduced less overall. In the group using the solution with chlorhexidine, a meaningful decrease in bacterial reproduction was discovered compared to the control group. CONCLUSION: The findings of this study show that the education, occupation, and socioeconomic situations of the parents should be considered when discussing children's oral and dental health. Moreover, the study shows that disinfection of toothbrushes in order to prevent reinfection and contamination oral flora with the bacteria again is important in terms of preventive medicine and family-children health.

Sleep quality in rheumatoid arthritis: relationship between the disease severity, depression, functional status and the quality of life.

BACKGROUND: The aim of this study was to evaluate sleep quality and the related variables in patients with rheumatoid arthritis (RA). METHODS: Ninety-four patients diagnosed with RA and fifty two healthy controls were enrolled in the study. Disease activity was assessed through the Disease Activity Score (DAS) 28 scale. All patients were assessed using the Rheumatoid Arthritis Quality of Life and Health Assessment Questionnaire scales, together with the Beck Depression Inventory. Radiological damage was calculated with the modified Larsen method. The Pittsburgh Sleep Quality Index (PSQI) was used for the evaluation of the sleep disturbance. RESULTS: The patients with RA had significantly higher scores in the subjective sleep quality, sleep latency, habitual sleep efficiency, sleep disturbance domains and the total PSQI score compared to the healthy control group. According to the results of Spearman's analysis, there was a significantly correlation between the age, disease activity, CRP, pain, fatigue, depression, functional disability, quality of life, radiological damage, menopause status, duration of morning stiffness, ESR levels and the sleep disturbance. The logistic regression analysis indicated that depression and DAS 28 scores were predictors for poor sleep quality. CONCLUSION: The sleep quality is disturbed in patients with RA. The poor sleep quality is especially associated with the disease activity and depression.

Low fetuin-A level in migraine: a case-control study.

Migraine is a type of primary headache which is caused by the alterations in trigeminovascular system. Migraine attacks are associated with neurovascular inflammation of the cerebral and extracerebral vessels, but its pathophysiological mechanisms have not still been fully delineated. Also, migraine has been found to be associated with higher risks for various metabolic disorders. Thus, we aimed to investigate the matrix metalloproteinases (MMP), fetuin-A, ghrelin, and omentin levels which have important roles in metabolic disorders and inflammation, and to examine their relationship with migraine subtypes and attack frequency. Forty-nine migraine patients and 30 age- and sex-matched healthy control subjects were enrolled. Migraine diagnosis was confirmed according to the International Classification of Headache Disorders-II diagnostic criteria. Analyses of MMP9,MMP3, ghrelin, omentin, and fetuin-A were performed by the ELISA method. Fetuin-A, MMP-9, and MMP-3 levels were significantly lower in migraine than controls (p < 0.05). There were no significant differences between groups with respect to omentin and ghrelin (p > 0.05). In migraine patients, serum fetuin-A levels were positively correlated with MMP-9 and negatively correlated with MMP-3. MMP-3, MMP-9, fetuin-A, omentin and ghrelin levels did not correlate with age, disease duration, or frequency of migraine headache (p > 0.05). Migraine patients have lower fetuin-A, MMP-3 and MMP-9 levels than healthy individuals. Migraine patients have low fetuin-A levels, which may be related to the pathogenesis of migraine. The importance and impact of our findings on the pathogenesis, characteristics, and treatment of migraine needs to be investigated in further detailed studies.

Increased fibrinogen, D-dimer and galectin-3 levels in patients with migraine.

There are limited studies evaluating the fibrinogen levels in patients with migraine. It remains unknown whether the levels of the haematological marker of thromboembolism, D-dimer, and the levels of galectin-3, which plays an important role in inflammation as a proinflammatory mediator, change during the attacks in patients with migraine. The present study aims to compare galectin-3, fibrinogen and D-dimer levels in patients with migraine during the attacks and interictal periods, and to compare galectin-3, fibrinogen and D-dimer levels between patients with migraine and healthy controls to investigate the role of these parameters in the pathogenesis of migraine. Fifty-nine patients with migraine and 30 age-gender matched healthy control subjects were enrolled in the study. Blood galectin-3, fibrinogen and D-dimer levels were measured in patients with migraine. Patients with migraine had higher levels of galectin-3, fibrinogen and D-dimer compared to the healthy controls (p < 0.05). No statistically significant difference was found between galectin-3 and fibrinogen levels during the attacks and interictal period in the migraine group (p > 0.05). Migraine patients had higher D-dimer levels during the attacks compared to the patients in the interictal period in the migraine group (p = 0.05). In conclusion, we found increased levels of fibrinogen, D-dimer and galectin-3 in patients with migraine compared to the healthy control group. Furthermore, we showed increased galectin-3 levels in patients with migraine, and higher D-dimer levels during migraine attacks compared to the interictal periods for the first time. These findings may be associated with the hypercoagulability and neurogenic inflammation during migraine headaches.

Sleep quality in patients with systemic sclerosis: relationship between the clinical variables, depressive symptoms, functional status, and the quality of life.

The aim of this study is to evaluate the relationship between the sleep quality and the disease-related variables, functional status, quality of life, and depressive symptoms in patients with systemic sclerosis (SSc). Forty-eight patients diagnosed with SSc and 42 healthy control subjects were enrolled in the study. The demographic and clinical characteristics of the patients such as the Raynaud's phenomenon, SSc subtype, digital ulcers, gastrointestinal and lung involvement, and disease activity were recorded. All patients were assessed using the short form 36 (SF-36) quality of life scale, the health assessment questionnaire and the beck depression inventory. Generalized pain and fatigue were assessed with the Visual Analoge Scale. For the evaluation of the sleep disturbance, the SSc and control groups were assessed with the help of the Pittsburgh Sleep Quality Index (PSQI). The patients with SSc had significantly higher scores in the subjective sleep quality, sleep latency, habitual sleep efficiency, sleep disturbance, daytime dysfunction domains, and in terms of the total PSQI score compared to the healthy control group (p < 0.05). According to the results of spearman's analysis, there was a significantly higher correlation between the generalised pain, fatigue, depressive symptoms, functional status, and physical score of the SF-36 and the sleep disturbance (p < 0.01). There was also a significantly lower correlation between the menopause status, dyspnoea, gastroesophageal reflux, dysphagia, the mental score of the SF-36, and the sleep disturbance (p < 0.05). The sleep quality is disturbed in patients with SSc. The lower quality of sleep is especially associated with the pain, fatigue, depressive symptoms, and functional status.

The relationship of metabolic syndrome with disease activity and the functional status in patients with rheumatoid arthritis.

BACKGROUND: The aim of this study is to investigate the frequency of metabolic syndrome (MS) in patients with rheumatoid arthritis (RA) and to determine the relationship between the clinical and laboratory parameters of RA and the components of the metabolic syndrome (MS). METHODS: Fifty-four patients with RA and 52 healthy individuals were enrolled in this study. The diagnosis of rheumatoid arthritis was based on the American College of Rheumatology criteria and the diagnosis of the metabolic syndrome was made according to the criteria set out in the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI). The functional status and disease activity were also recorded in patients with RA. RESULTS: MS was diagnosed in 42.6% of the patients with RA and in 9.6% of the healthy controls. The systolic and diastolic blood pressure values were observed to be significantly higher in the patients with RA in comparison to the controls. Also, the frequency of MS was higher in the inferior functional group in relation to the higher functional group. A positive correlation was observed between the DAS28 scores and hypertension in patients with RA. CONCLUSIONS: In this study, MS was more frequently detected in the patients with RA compared to the control group. Also, an inferior functional status in RA was also found to be associated with the presence of MS. Thus, the presence of MS in patients with RA may be associated with a higher cardiovascular risk.