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.     

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.     

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.     

Aneurysmal bone cysts of the spine

Purpose

Aneurysmal bone cyst is a benign, relatively uncommon lesion, representing 1.4 % of primary bone tumors. The vertebral column is involved in 3–30 % of cases. This report describes clinical characteristics and treatment results of 18 patients with aneurysmal bone cyst of the spine.

Methods

Between 1991 and 2008, 18 patients with aneurysmal bone cyst of the spine were surgically treated in our department. The clinical records, radiographs, histologic sections, and operative reports were analyzed.

Results

There were 11 male and 7 female patients; mean age was 22.1 years (range 7–46 years). Localizations were cervical (3), cervicothoracic (2), thoracic (3), lumbar (4), and sacrum (6). Tumor was localized on the left side in 11 cases, on the right side in 2 and at midline in 5 patients. The two most common clinical features were axial pain (14 patients) and radicular pain (8 patients). Neurological signs were paraparesis in 3, monoparesis in 6. Mean duration of symptoms was 9 months (range 3 months–3 years). All patients underwent surgery: total removal was performed in 13 patients and subtotal resection in 5. Posterior (11), anterolateral (1), or combined anterior-posterior (6) approaches were used. Mean follow-up duration was 112.3 months (range 4–21 years). We detected four recurrences in subtotal excision group (4/5), and one recurrence in total excision group (1/13).

Conclusion

Treatment options for aneurysmal bone cysts are simple curettage with or without bone grafting, complete excision, embolization, radiation therapy, or a combination of these modalities. Radical surgical excision should be the goal of surgery to decrease the recurrence rate. Recurrence rate is significantly lower in case of total excision.     

Risk of vasovagal syncope and cardiac arrhythmias in children with mitral valve prolapse

OBJECTIVE: Postural phenomena, cardiac arrhythmias and autonomic dysfunction are responsible for presyncope and syncope in patients with mitral valve prolapse (MVP). In this study, arrhythmia and vasovagal syncope incidence were investigated in children with MVP. METHODS: Between April 2005 and December 2006, 37 children with MVP and 26 healthy children were evaluated.Telecardiography, electrocardiography (ECG), echocardiography, Holter monitoring, exercise test and head-up tilt test were performed. RESULTS: The MVP group consisted of 19 boys and 18 girls with a mean age of 11.8 years. The control group was similar with respect to age and gender. Telecardiography, ECG, Holter monitoring, exercise test and QTc of all children were within normal limits.There was a statistically significant difference between the two groups in terms of QT dispersion. The tilt table test was positive in 11 of 37 (29.7%) children with MVP and in 1 of 26 (3.8%) normal healthy children. This difference was statistically significant (P < 0.01). CONCLUSION: Arrhythmia and syncope frequency was found to be higher in children with MVP than in the normal population. The risk of vasovagal syncope indicated by a positive tilt test was found to be increased in children with MVP. Therefore, patients and families must be informed about the conditions that may predispose to vasovagal syncope and caution should be recommended in these patients.     

Aortic pulse wave velocity in subjects with aortic valve sclerosis

Background: Aortic stiffness is an independent risk factor for cardiovascular events and mortality. The measurement of pulse‐wave velocity (PWV) is the most simple, noninvasive, and robust method to determine aortic stiffness. Whether aortic stiffness contributes to aortic valve sclerosis (AVS) remains unknown. The aim of the present study was to examine the relationship between PWV and AVS in subjects free of clinically evident atherosclerotic disease. Methods: We enrolled 62 patients (48 men; age 65 ± 8 years) diagnosed with AVS and an additional 62 age‐, hypertension‐, diabetes mellitus‐, and history of smoking‐matched subjects without AVS. Applanation tonometry was applied to assess the augmentation index and aortic PWV. The subjects with symptomatic vascular disease were excluded from the study. AVS was defined by echocardiography as thickening and calcification of the normal trileaflet aortic valve without obstruction to the left ventricular outflow. Results: There was no significant difference between the two groups regarding the aortic PWV and augmentation index (11.7±3.3 vs 11.8±3.7, P=0.85; 28.0±9.4 vs 25.0±8.6, P=0. 17, respectively). The presence of AVS was significantly correlated with ejection fraction (r=0.211, P=0.011), male gender (r=0.362, P=0.0001), and age (r=0.200, P=0.026). Conclusions: The lack of an association between the aortic PWV and AVS suggests that AVS is a complex phenomenon consisting of several distinct processes, related to both atherosclerotic and nonatherosclerotic processes.