The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.     

Effect of Pilates training on people with ankylosing spondylitis

The objective of this study was to investigate the effects of Pilates on pain, functional status, and quality of life in patients with ankylosing spondylitis. The study was performed as a randomized, prospective, controlled, and single-blind trial. Fifty-five participants (30 men, 25 women) who were under a regular follow-up protocol in our Rheumatology Clinic with the diagnosis of AS according to the modified New York criteria were included in the study. The participants were randomly assigned into two groups: in group I, Pilates exercise program of 1?h was given by a certified trainer to 30 participants 3 times a week for 12?weeks, and in group II, designed as the control group, 25 participants continued previous standard treatment programs. In groups, pre-(week 0) and post treatment (week 12 and week 24) evaluation was performed by one of the authors who was blind to the group allocation. Primary outcome measure was functional capacity. Evaluation was done using the Bath Ankylosing Spondylitis Functional Index (BASFI). Exploratory outcome measures were Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Metrology Index (BASMI), Chest expansion, and ankylosing spondylitis quality of life (ASQOL) questionnaire. In group I, BASFI showed significant improvement at week 12 (P?=?0.031) and week 24 (P?=?0.007). In group II, this parameter was not found to have significantly changed at week 12 and week 24. Comparison of the groups showed significantly superior results for group I at week 24 (P?=?0.023). We suggest Pilates exercises as an effective and safe method to improve physical capacity in AS patients. Our study is the first clinical study designed to investigate the role of Pilates method in AS treatment. We believe that further research with more participants and longer follow-up periods could help assess the therapeutic value of this popular physical exercise method in AS.     

Left Ventricular Dyssynchrony and Its Effects on Cardiac Function in Patients with Newly Diagnosed Hypertension

Objectives: Left ventricular (LV) systolic synchrony, defined as simultaneous peak contractions of corresponding cardiac segments, is well documented to be impaired in hypertension but its effect on LV function is not clear. The aim of this study was to assess the impacts of LV systolic dyssynchrony on LV function in newly diagnosed hypertensives. Methods: Forty-eight newly diagnosed hypertensive patients and 33 controls were enrolled. All study population underwent a comprehensive echocardiographic evaluation including tissue synchrony imaging. The time to regional peak systolic tissue velocity (Ts) in LV by 12 segmental models was measured and two parameters of systolic dyssynchrony were computed. Results: Baseline demographic characteristics were similar in both study groups. Dyssynchrony parameters prolonged in newly diagnosed hypertensive patients compared to controls: the standard deviation (SD) of 12 LV segments Ts (40.2 ± 21 vs. 26.2 ± 13.4, P = 0.003); the maximal difference in Ts between any 2 of 12 LV segments (123.3 ± 61.5 vs. 79.8 ± 37.9, P = 0.001). In multivariable analysis, Ts-SD-12 was found to be an independent predictor for systolic function (β=-0.29, P = 0.008). But, both diastolic and global functions were not independently related to Ts-SD-12. Conclusion: LV synchronization is impaired in newly diagnosed hypertensive patients. LV dyssynchrony is one of the independent predictors of systolic function in hypertensive patients.     

Catheter-based Treatment of In-stent Restenosis: A Review

Stenting is a safe and efficient method for treatment of ischaemic heart disease. Nevertheless, it gives rise to some additional problems, especially in-stent restenosis. Several techniques including balloon angioplasty, restenting, rotaablation, excimer laser angioplasty, directional coronary atherectomy, cutting balloon angioplasty, brachitherapy and radioactive stents have been performed to treat in-stent restenosis. Balloon angioplasty is preferred in focal lesions (<10 mm). Restenting can be used only in selective cases. The clinical results of debulking techniques associated with balloon angioplasty in patients with long lesions are better especially in diabetic patients. In addition to these procedures, coronary bypass surgery in patients in-stent restenosis with multivessel disease seems to yield to best outcomes. On the other hand, current smoking, diabetes mellitus, unstable angina pectoris, and time to reintervention and in-stent restenosis in saphenous vein lesions are important negative predictors for re-restenosis. The main goal of the treatment of in-stent restenosis is the prevention of the restenosis. Unless this problem is solved the newer techniques will develop, and they will also carry on the newer problems.     

Cytomegalovirus colitis in a patient with Behcet’s disease receiving tumor necrosis factor alpha inhibitory treatment

Anti-tumor necrosis factor alpha （TNF-α） inhibitors are effective in the treatment of various inflammatory rheumatic conditions. Increased risks of serious infections are the major issues concerning the long-term safety of these agents. We present a case of a young male Behcet’s patient whose disease was complicated by cytomegalovirus （CMV） colitis. Colitis started 10 d after the third Infliximab dose and responded to the cessation of TNF blocking treatment and administration of ganciclovir. Tumor necrosis factor alpha and interferon gamma act at several levels in combating viral infections.CMV infections should be kept in mind and included in the differential diagnosis of severe gastrointestinal symptoms in patients receiving anti-TNF agents.     

ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction.     

Interleukin‐2 gene polymorphism in Turkish patients with Behçet's disease and its association with ocular involvement

Behçet's disease (BD) is a chronic immune‐mediated systemic disease, characterized by oral and genital lesions and ocular inflammation. Several cytokine genes may play crucial roles in host susceptibility to BD, because the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the interleukin (IL)‐2 gene polymorphisms with the susceptibility to BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD and 76 healthy control subjects. Polymorphisms of IL‐2 gene at position ?330 and +166 were determined using the polymerase chain reaction with sequence‐specific primers. In the patients with BD, there was a significantly increased frequency of IL‐2 ?330 GT genotype. Interestingly, we demonstrated that the frequencies of IL‐2 ?330 GT and IL‐2 + 166 GG genotypes were increased in BD patients with ocular involvement, whilst IL‐2 ?330 TT genotype was significantly decreased. Also, analysis of allele frequency demonstrated that the presence of G allele at position +166 of IL‐2 seems to be a risk factor for ocular involvement. These results reveal that IL‐2 ?330 GT genotype may be a susceptibility factor for BD, whereas IL‐2 ?330 TT genotype seems to display a protective association with BD. Additionally, IL‐2 gene polymorphisms might be associated with ocular involvement in BD.     

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.