A thoracic-epidural granulocytic sarcoma case that was diagnosed preceding the onset of and that recurred co-incidental to acute promyelocytic leukemia, which developed after surgical treatment.

Granulocytic sarcoma or chloroma is a tumor seen in myelocytic leukemia. Spinal epidural onset is rare and is generally seen before or together with the onset of myelocytic leukemia. An epidural mass located at the 2nd-5th thoracic levels in an 18-year-old male patient was pathologically diagnosed as granulocytic sarcoma. Radiotherapy was performed after surgical intervention. Ten months later, he was re-admitted with abdominal pain. At this time, an epidural mass at the 6th-9th thoracic levels was detected on magnetic resonance imaging, and acute promyelocytic leukemia was diagnosed. After systemic chemotherapy, partial remission was achieved. We aimed to present this rare case with its remarkable follow-up findings.</p

A Case with Holt-Oram Syndrome

Holt-Oram sendromu üst ekstremite anomalileri ve doğumsal kalp hastalıkları ile karakterize, otozomal domiant katılımlı bir sendromdur. Doğumsal kalp defektlerinden en sık atriyal septal defekt (ASD) eşlik eder. Beş yaşında kız olguya; 2 yaşında iken ASD, baş parmağının trifalankslı olması ve babasında da ASD ve el anomalisi olması nedeni- yle Holt-Oram sendromu tanısı konuldu. İlk planda ASD’nin transkateter kapatılması planlandı fakat transözafagiyal ekokardiyografi ile rimlerinin uygun olmadığına karar verilerek ASD’si cerrahi olarak kapatıldı. Bu makale, üst eks- tremite anomalisi olan hastalarda doğumsal kalp defektlerininde eşlik edebileceğinin anımsanması ve ender görülen bir sendrom olan Holt-Oram sendromunun akla getirilmesi amacı ile sunuldu.Holt-Oram syndrome is an autosomal domiant- associated syndrome characterized by upper extremity anomalies and congenital heart diseases. Of the congenital heart defects, atrial septal defect (ASD) is most frequently accom- panied. A five-year-old girl; When she was 2 years old, she was diagnosed with Holt-Oram syndrome because of her ASD, her thumb with triphalanx, and her father with ASD and hand anomalies. Transcatheter closure of ASD was planned in the first plan, but it was decided by transesophageal echocardiography that the rims were inapp- ropriate, and ASD was closed surgically. This article is presented with the aim of remembering that congenital heart defects may accompany patients with upper extremity anomaly and to think of Holt-Oram syndrome which is a rare syndrome

Assessment of ventricular septal defects by real-time three-dimensional echocardiography and comparison with surgical measurements

Peer reviewe

Evaluation of left ventricular functions by speckle-tracking echocardiography in coarctation patients

Background/Aim Two-dimensional speckle-tracking echocardiography (2D-STE) is a novel method that allows the assessment of regional myocardial function. The aim of our study was to use 2D-STE to assess left ventricular deformation in patients with coarctation of the aorta (CoA). Methods In this prospective study, patients with CoA (n = 42) and healthy controls (n = 39) were recruited. Children with CoA who visited the outpatient clinic between 2013 and 2014 were included. The data were compared with those obtained from the sex- and age-matched controls. Results The mean age of the patients was 5.8 +/- 4.5 years. Global longitudinal strain based on all three apical views and total global strain values did not appear to be different between the patient and the control groups (P = .59, P = .51, P = .15, P = .38). Hypertension was detected in 14 (33.3%) patients with CoA. There were significant differences between the global longitudinal strain values of the normotensive CoA subgroup and the hypertensive CoA subgroup (P < .05). Conclusions In our study, we found that 2D-STE total strain analysis of patients with CoA was not different from comparative healthy controls. However, we determined that 2D-STE parameters were lower in the hypertensive CoA subgroup compared to the normotensive CoA subgroup

Can ambulatory blood pressure monitoring detect early diastolic dysfunction in children with type 1 diabetes mellitus: correlations with B-type natriuretic peptide and tissue Doppler findings

Aim: To evaluate the relationship between 24- h blood pressure ( BP) measurements and diastolic heart function evaluated by Doppler tissue imaging and B- type natriuretic peptide ( BNP) levels in children with type 1 diabetes mellitus ( DM). Patients and methods: A total of 32 diabetic and 18 healthy children were enrolled. Spectral Doppler analysis and tissue Doppler measurements were performed by conventional echocardiography. The 24- h ambulatory BP and serum BNP levels were measured. Results: Analysis of ambulatory blood pressure monitoring ( ABPM) recordings showed that median daytime diastolic BP load were significantly higher in diabetic patients compared to controls [ 12.35 ( 4.23- 27.23) vs. 2.5 ( 0- 8.7), p= 0.007]. Patients with elevated daytime systolic and diastolic BP loads had significantly higher BNP values compared to patients with normal BP load ( 31.4 +/- 24.36 vs. 11.84 +/- 11.25 pg/ mL, p= 0.03 and 23.21 +/- 15.12 vs. 12.12 +/- 14.65 pg/ mL, p= 0.03, respectively). Isovolemic contraction time ( 47.43 +/- 7.84 vs. 42.27 +/- 7.47, p= 0.045), isovolemic relaxation time ( 68.84 +/- 10.43 vs. 58.77 +/- 10.02, p= 0.02), and myocardial performance index ( 0.45 +/- 0.10 vs. 0.37 +/- 0.09, p= 0.02) as determined by tissue Doppler echocardiography were significantly high in diabetic patients compared to that of control cases. Ratio of mitral peak early diastolic flow velocity ( E) to peak early diastolic myocardial velocities by tissue Doppler echocardiography ( E') was also higher in patients with elevated daytime systolic BP load ( E/ E ', 6.71 +/- 1.97 vs. 4.91 +/- 1.02, p= 0.04). Conclusion: Elevated BP loads detected by 24- h ambulatory BP measurements in children with type 1 diabetes are associated with increased BNP levels and abnormal tissue Doppler echocardiography indices, indicating early stage cardiac dysfunction

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

WOS: 000445908000052PubMed ID: 30270069Background and aims: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of largescale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). Methods: A-HIT1 is a survey of homozygous FH patients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FH patients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. Results: A-HIT1 evaluated 88 patients (27 +/- 11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 +/- 7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 +/- 13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 +/- 13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FH patients (53 +/- 8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. Conclusions: The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.Turkish Society of Cardiology; Aegerion; Amyrit; AmgenAmgen; PfizerPfizer; SanofiSanofi-AventisA-HIT1 and 2 registries are sponsored by the Turkish Society of Cardiology that receives funding from a variety of sources (including unrestricted research grants from Aegerion, Amyrit, Amgen, Pfizer, and Sanofi)