Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations

Functional limitations for the vitamin K cycle, caused either by mutations in gamma-glutamyl carboxylase or vitamin K epoxide reductase genes, result in hereditary deficiency of vitamin K-dependent coagulation factors (VKCFD1 and VKCFD2, respectively). Patients suffering from VKCFD often share several other anatomical irregularities which are not related to haemostasis. Here we report on nine patients, eight of them previously unreported, who presented with VKCFD1. All were examined with special attention to vitamin K-dependent coagulation factors as well as to bone and heart development and to other anatomical signs of embryonal vitamin K deficiency. In total, we detected ten mutations in the gamma-glutamyl carboxylase gene of which seven have not been previously reported. Most interestingly, additional non-bleeding phenotypes were observed in all patients including midfacial hypoplasia, premature osteoporosis, cochlear hearing loss, heart valve defects, pulmonary stenosis, or pseudoxanthoma elasticum-like phenotype. Undercarboxylated matrix Gla protein, osteocalcin, and periostin appear to be responsible for these defects which are also observed in cases of fetal warfarin syndrome.     

Sonographic assessment of carpal tunnel syndrome in rheumatoid arthritis: prevalence and correlation with disease activity

Carpal tunnel syndrome (CTS) is one of the most frequent extra-articular manifestations of rheumatoid arthritis (RA). High frequency ultrasonography (US) is a sensitive and specific method in diagnosis of CTS. This study is aimed to: firstly assess diameter frequency of CTS in RA with US and compare with a control group; secondly, investigate relationship of CTS with disease activity. One hundred consecutive RA patients (women/men: 78/22) fulfilling ACR 1987 RA criteria and 45 healthy controls (women/control: 34/11) were enrolled into study. Disease activity parameters, RA and CTS patient global assessment and health assessment questionnaire (HAQ-DI) were recorded. Both patient and control group were questioned about secondary causes of CTS, and Katz hand diagram, Boston CTS questionnaire and Phalen ve Tinel tests were applied once for each hand. Wrist joint and carpal tunnel were assessed with US grey scale and power Doppler US, then cross-sectional area of median nerve (CSA) was calculated. Patients with median nerve CSA between 10.0 and 13.0 mm(2) were evaluated with electromyography (EMG). CTS was diagnosed if CSA of median nerve >13.0 mm(2) or CTS was shown with NCS. Although there was no difference between RA patients and controls in age, sex, history of DM (+) and goitre, CTS was more frequent in RA group (respectively, 17.0% vs. 4.4%, P = 0.038). In RA group with CTS, age, history of DM, disease duration, HAQ-DI score, CTS patient global score, Boston symptom severity and functional status scores were elevated compared to without CTS [respectively, 57 (36-73) vs. 50 (24-76), P = 0.041; 35.3% vs. 6.0%, P < 0.001; 108 (12-396) months vs. 72 (6-360) months, P = 0.036; 1.93 (0.75-2.87) vs. 1.125 (0-2.75), P = 0.013; 52 (1-97) vs. 25 (0-91), P = 0.001; 2.81 (1.18-4.17) vs. 2.0 (1.0-4.01), P = 0.01; 3.37 (1.37-5.0) vs. 2.25 (1.0-5.0), P = 0.008]. No difference was found between CTS (+) and (-) RA patients in acute phase reactants, disease activity and US findings (P > 0.05). Sensitivity of Katz hand diagram was higher than Tinel and Phalen tests (respectively, 100, 60.0, 66.7%). Boston symptom and functional scores of RA patients with CTS diagnosed by EMG were increased than patients CTS (-) by EMG [respectively, 3.05 (1.90-4.27) vs. 1.55 (1.0-2.90), P = 0.002; 3.25 (1.73-3.82) vs. 1.12 (1.0-2.10), P = 0.008]. CTS frequency in RA was found higher than normal population, especially in patients with additional risk factors of CTS. There was no relationship between CTS and disease activity. CTS group had long disease duration and worse functional status. CTS could be a result of the chronic course in RA. In patient with CSA between 10 and 13 mm(2), Boston CTS questionnaire might give additional idea about CTS.     

Recipient splenic artery utilization for arterial re-anastomosis in living donor liver transplantation: single-center experience

Thrombosis of recipient hepatic artery is a life threatening complication for liver transplantation. The etiology of hepatic arterial thrombosis is multi-factorial and can be caused by intimal dissection, poor surgical technique and coagulopathies. The patency of hepatic arterial flow is very important for both graft survival and patient survival. Intraoperative diagnosis of inadequate hepatic arterial flow found with Doppler ultrasonography is essential in order to achieve good results after liver transplantation. Urgent re-anastomosis is necessary when the arterial blood flow is insufficient. We performed 317 living donor liver transplantations from July 2004 to July 2011. We used recipient splenic artery for hepatic artery reconstruction in six patients. These six patients were included in this study. Using the recipient splenic artery is a simple, safe and practical alternative for hepatic artery re-anastomosis in living donor liver transplantations.     

Macroglossia and Generalized Edema not Due to Hypothyroidism

We present a 69-year-old male patient with the macroglossia, dysphagia and generalized edema. He was seen previously by other physicians and diagnosed as hypothyroidism. With thyroid stimulating hormone in normal range, tongue biopsy revealed primary systemic amyloidosis. Amyloidosis is the most common cause of macroglossia. Primary systemic amyloidosis should be suspected when laboratory does not support hypothyroidism especially if the enlarged tongue is firm and additional findings are present.     

Adipokines and Systemic Inflammation in Weight-Losing Lung Cancer Patients

Background  

Cancer cachexia is a devastating condition leading to loss of function and independence, decreased performance status, decreased quality of life, and poor prognosis. Adipokines play a role in a wide variety of physiological or pathological processes, including immunity and inflammation, in addition to having significant effects on metabolism and lipogenesis. The objective of the present study was to investigate the relationship of adipokines and systemic inflammation in weight-losing advanced-stage non-small-cell lung cancer (NSCLC) patients.     

Effects of severity and location of nonsyndromic hypodontia on craniofacial morphology

Objective:To evaluate the effects of severity and location of nonsyndromic hypodontia on craniofacial morphology.Materials and Methods:A total of 154 patients with at least two or more congenitally missing teeth were selected and divided into two groups (group I [mild]: patients with two to five missing teeth; group II [severe]: patients with six or more missing teeth). The patients with hypodontia were divided into three groups according to the location of missing teeth in the dental arches (anterior, posterior, and both anterior and posterior) and location of missing teeth between the jaws (maxilla, mandible, and both maxilla and mandible). Fifty Class I patients without any missing teeth served as the control group. Twenty-one measurements were performed on lateral cephalograms. Intergroup differences for the severity and location of hypodontia were analyzed using analysis of variance (ANOVA) and post-hoc Tukey tests.Results:Significant decreases were found in mandibular plane angles (P < .05), upper and lower incisor measurements (P < .05), anterior (P < .001) and posterior (P < .05) face heights, and ramus height (P < .01), as well as a significant increase in the soft tissue convexity angle (P < .05) among the hypodontia groups and control group. These differences were more excessive in the severe hypodontia group. Upper lip-E plane measurements were significantly longer in the mandible group than in the maxilla group (P < .01).Conclusions:Patients with congenitally missing teeth have different craniofacial morphologies. The severity and location of missing teeth have a significant effect.     

Effects of different bleaching methods on shear bond strengths of orthodontic brackets

Objective:To evaluate the effects of different bleaching methods on the shear bond strength (SBS) of orthodontic brackets.Materials and Methods:Forty-five freshly extracted premolars were randomly divided into three groups (n  =  15 per group). In group I, bleaching was performed with the office bleaching method. In group II, bleaching was performed with the home bleaching method. Group III served as the control. Orthodontic brackets were bonded with a light cure composite resin and cured with an LED light. After bonding, the SBS of the brackets were tested with a Universal testing machine.Results:Analysis of variance indicated a significant difference between groups (P < .001). The highest values for SBS were measured in group III (20.99 ± 2.32 MPa). The SBS was significantly lower in groups I and II than in group III (P < .001). The lowest values for SBS were measured in group II (6.42 ± 0.81 MPa). SBS was significantly higher in group I than in group II (P < .001).Conclusions:Both of the bleaching methods significantly affected the SBS of orthodontic brackets on human enamel. Bleaching with the home bleaching method affected SBS more adversely than did bleaching with the office bleaching method.     

Home-based exercise therapy in patients with ankylosing spondylitis: effects on pain, mobility, disease activity, quality of life, and respiratory functions

The home-based exercise therapy recommended to the patients with ankylosing spondylitis (AS) is a simply applicable and cheap method. The aim of this study was to investigate the effects of home-based exercise therapy on pain, mobility, function, disease activity, quality of life, and respiratory functions in patients with AS. Eighty patients diagnosed with AS according to the modified New York criteria were included in the study. Home-based exercise program including range of motion, stretching, strengthening, posture, and respiratory exercises was practically demonstrated by a physiotherapist. A training and exercise manual booklet was given to all patients. Patients following home-based exercise program five times a week at least 30 min per session (exercise group) for 3 months were compared with those exercising less than five times a week (control group). Visual analog scale pain (VASp) values at baseline were significantly higher in the exercise group. The exercise group showed improvements in VASp, tragus–wall distance, morning stiffness, finger–floor distance, modified Schober's test, chest expansion, the Bath Ankylosing Spondylitis Disease Activity Index, the Bath Ankylosing Spondylitis Functional Index, Ankylosing Spondylitis Quality of Life Questionnaire (ASQoL), forced expiratory volume in first second, and forced vital capacity at third month. There was significant difference in ASQoL scores between the two groups in favor of the exercise group at third month. Regular home-based exercise therapy should be a part of main therapy in patients with AS. Physicians should recommend that patients with AS do exercise at least five times a week at least 30 min per session.     

Low plasma renin activity and high aldosterone/renin ratio are associated with untreated isolated systolic hypertension

Abstract Objective. Isolated systolic hypertension (ISH) is generally encountered in elderly patients and there are scarce data regarding the renin-angiotensin-aldosterone system (RAAS) activity in patients with ISH. We aimed to determine the plasma renin activity (PRA), plasma aldosterone levels (PAL) and aldosterone/PRA ratio (PAL/PRA) in patients (age >50 years) with ISH and to compare these values with patients with essential hypertension (EH) as well as subjects with normal blood pressure values (control) who have similar age and cardiovascular risk profile. Methods. Consecutively, 42 untreated ISH patients, 30 patients with EH and 29 normal subjects were included in the study. Parameters were presented as median (interquartile range). Results. There were no significant differences regarding age, gender and other cardiovascular risk factors among groups. As expected, systolic, diastolic blood pressure and pulse pressure values were significantly different among groups. Besides, PRA values were found to be significantly lower in patients with ISH (0.4 [0.2-1.1] ng/ml/h) compared with the EH (0.95 [0.5-2.6] ng/ml/h, p =0.024) and control (1.3 [0.7-2.1] ng/ml/h, p =0.001) groups. Although, PAL were similar among groups, PAL/PRA ratio was significantly higher in ISH group (134.1 [73-224]) compared with those with EH (42.2 [35-84], p <0.001) and the control group (53.3 [30-106], p =0.001). No significant difference was present with respect to PAL/PRA ratio between EH and control groups. Conclusions. Our findings suggested that in patients with ISH, despite lower PRA levels, PAL/PRA ratio is significantly higher compared with the patients with EH and subjects with normal blood pressure. Since higher PAL/PRA levels is an indicator of relative aldosterone excess, medications blocking RAAS activity including aldosterone antagonists may have useful cardiovascular consequences in addition to their antihypertensive effects in ISH.