Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

WOS: 000378613800001PubMed ID: 27100822Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations. In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and cataract in addition to the classical MAD phenotype. Both patients were found to be homozygous for the Ala529Val mutation of the LMNA gene. Our female patient is the oldest MADA patient (59 years old) who has ever been reported with the LMNA mutation and also the LMNA Ala529Val mutation. This study is the second report on MADA patients with a homozygous Ala529Val mutation

Frequency and risk factors of dermatophytosis in students living in rural areas in Eskisehir, Turkey

Our study included 2384 students from five villages around Eskisehir, Turkey. We asked every student for their personal identification and also for their sanitation in order to get an idea about dermatophytosis. Samples taken from suspicious lesion were collected and inoculated onto Sabouraud dextrose agar slants. For identification of fungi which were grown, macroscopic appearance of colonies, microscopic examination and biochemical tests were used. We found suspicious lesions in 245 (10.3%) and diagnosed dermatophytosis in 86 (3.6%) of the students. The dermatophyte species were Trichophyton rubrum 37 (43%) at first, Trichophyton mentagrophytes 17 (19.8%), Microsporum canis 11 (12.8%), Microsporum gypseum 8(9.3%), Epidermophyton floccosum 6 (7%), Trichophyton verrucosum 6 (7%) and Trichophyton violaceum 1 (1.1%). Tinea pedis (59.3%) was the most frequent clinic form of dermatophytosis, followed by tinea corporis (22.1%), tinea capitis (9.3%), tinea manum (7.0%) and tinea unguium (2.3%). Older age, male gender, poor hygiene, living in dormitory, low level mother education, history of dermatophytosis within family and sanitary conditions were computed as independently variables associated with dermatophytosis infection. For prevention and control of dermatophyte infection in children living rural areas, field studies should be done and sanitary conditions should be improved

Could Cardiac Troponin I Levels Predict Mortality In The Elderly?

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Effects Of Hormone Replacement Therapy On Sarcopenia: Is It Real?

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Correlations among enthesitis, clinical, radiographic and quality of life parameters in patients with ankylosing spondylitis

WOS: 000338636500018PubMed ID: 24252034Objectives. To investigate the relationship between enthesitis and disease activity, functional status, fatigue, joint mobility, radiological damage, laboratory parameter and quality of life in patients with ankylosing spondylitis (AS). Methods. A total of 421 patients with AS (323 male and 98 female) who were included in the Turkish League Against Rheumatism Registry were enrolled in the study. The Bath AS Disease Activity Index (BASDAI), fatigue, the Bath AS Functional Index (BASFI), the Bath AS Metrology Index (BASMI), the Maastricht AS Enthesitis Score (MASES), AS quality of life (ASQoL), the Bath AS Radiology Index (BASRI) and erythrocyte sedimentation rate (ESR) were evaluated. Results. Enthesitis was detected in 27.3% of patients. There were positive correlations between MASES and BASDAI, BASFI and fatigue (p < 0.05). MASES was not correlated with BASRI, BASMI, ASQoL and ESR. The mean MASES score was 1.1 +/- 2.4. The most frequent regions of enthesopathies were right iliac crest, spinous process of L5 and proximal to the insertion of left achilles tendon, respectively. Conclusions. Enthesitis was found to be associated with higher disease activity, higher fatigue, worse functional status and lower disease duration. As enthesitis was correlated with BASDAI, we conclude that enthesitis can reflect the disease activity in patients with AS.Pfizer CompanyThe authors express their gratitude to all members of the TRASD-IP AS Study group for their cooperation and to Pfizer Company for the registry sponsorship

Best Practice Recommendations for Geriatric Dysphagia Management with 5 Ws and 1H

Background: Dysphagia is a geriatric syndrome. Changes in the whole body that occur with aging also affect swallowing functions and cause presbyphagia. This condition may progress to oropharyngeal and/or esophageal dysphagia in the presence of secondary causes that increase in incidence with aging. However, no study has been published that provides recommendations for use in clinical practice that addresses in detail all aspects of the management of dysphagia in geriatric individuals. This study aimed to answer almost all potential questions and problems in the management of geriatric dysphagia in clinical practice. Methods: A multidisciplinary team created this recommendation guide using the seven-step and three-round modified Delphi method via e-mail. The study included 39 experts from 29 centers in 14 cities. Results: Based on the 5W and 1H method, we developed 216 detailed recommendations for older adults from the perspective of different disciplines dealing with older people. Conclusion: This consensus-based recommendation is a useful guide to address practical clinical questions in the diagnosis, rehabilitation, and follow-up for the management of geriatric dysphagia and also contains detailed commentary on these issues

Prevalence and predictors of gestational diabetes mellitus: a nationwide multicentre prospective study

Cetinkaya, Esra/0000-0003-2415-1236; Taskiran, Bengur/0000-0003-4842-450X; MELEKOGLU, RAUF/0000-0001-7113-6691; pekkolay, zafer/0000-0002-5323-2257; Ozer, Alev/0000-0002-0934-0226; kilinc, faruk/0000-0002-0198-2558; Aygun, Elif Ganime/0000-0003-3737-7250; KARAKILIC, ERSEN/0000-0003-3590-2656; Aydin, Hasan/0000-0003-4246-0681WOS: 000457530200011PubMed: 30402933Aim Prevalence rates of gestational diabetes mellitus (GDM) show considerable variation among different countries and regions of the world. The primary aim of this study was to determine the nationwide prevalence and predictors of GDM in Turkey. Methods We conducted prospective nationwide screening among pregnant women. Between August 2016 and November 2017, a total of 2643 pregnant women from 51 centres in 12 different regions were enrolled. A two-step screening method and Carpenter and Coustan criteria were used in the diagnosis of GDM. Clinical and biochemical data were obtained using electronic database software. Results The national prevalence of GDM was found to be 16.2% [95% confidence intervals (CI) 15.0% to 17.4%] without a significant difference between urban and rural regions. Women with GDM were older (mean age: 32 +/- 5 vs. 28 +/- 5 years, P < 0.001) and heavier (mean BMI: 27.2 +/- 5.1 vs. 24.7 +/- 4.7 kg/m(2), P < 0.001) than their counterparts without GDM. The prevalence of GDM tended to increase with age (< 25 years, 6.9%; 26-35 years, 15.6%; and 36-45 years, 32.7%; P < 0.001). Maternal age, maternal BMI, history of previous GDM and family history of diabetes mellitus were independent predictors of developing GDM (P < 0.05 for all). Low-risk women (age < 25 years, BMI < 25 kg/m(2), no family history of diabetes) comprised 10.7% of the total population and the prevalence of GDM in these women was 4.5% (95% CI 2.4% to 7.8%). Conclusion The results of this nationwide study indicate that GDM is very common, affecting one in seven pregnancies in Turkey. Implementation of international guidelines on screening and management of this public health problem is required