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Background: This study aimed to assess the ventricular anatomy, function of the right ventricle, and the haemodynamic findings of pulmonary artery in children with cystic fibrosis using cardiac MRI. Patients: This prospective study consisted of 32 children with mild cystic fibrosis and 30 age-matched healthy control participants. Methods: Cardiac MRI was used to assess right ventricular volumes, anatomy, and function and to assessment of haemodynamic findings of pulmonary artery in the control and study groups. Haemodynamic findings of pulmonary arteries were determined using pulmonary arteries peak velocity (cm/s), and pulmonary arteries time-to-peak velocity (ms) and pulmonary artery systolic pressure. All data of children with mild cystic fibrosis were compared with those of 30 age-matched healthy control group participants. Results: Our patients and their age-matched controls were aged from 6 to 17 years and from 7 to 15 years, respectively. We found that ejection fraction (%), cardiac output (L/ml), cardiac output (L/ml/m2), and systolic volume (ml/m2) were significantly lower in children with cystic fibrosis (p < 0.01). Right ventricular anterior wall thickness (mm) was significantly higher in children with cystic fibrosis (p = 0.01). No significant difference was observed between the haemodynamic parameters of pulmonary artery in the patient group. Conclusion: In our study, cardiac MRI was used to investigate whether the right ventricle was affected functionally and anatomically in children with mild cystic fibrosis. We detected a significant decrease in right ventricular systolic functions and notable alterations in the right ventricular geometry of children with mild cystic fibrosis. These alterations usually manifest themselves as hypertrophy of the right ventricle. Our study’s results demonstrate no relationship between the development of pulmonary hypertension in mild cystic fibrosis children.

Background/aim The evolving understanding of essential tremors (ET) has led to a new definition of neurodegenerative disease, pointing to diffuse brain network involvement with a wide spectrum of associated motor and nonmotor symptoms. Considering the fact that white matter should also be affected by the nature of the disease, our study aimed to evaluate the integrity of white matter and its clinical correlations in ET patients. Materials and methods Approximately 40 patients diagnosed with ET and 40 age-and sex-matched control subjects (ranging between 18–80 years old) were included in the study. The sociodemographic characteristics and clinical features of the patients were recorded. Tremors were assessed using the Fahn-Tolosa-Marin Tremor Rating Scale (FTM-TRS). Diffusion Tensor Imaging (DTI) was performed to evaluate the integrity of white matter. The selected white matter regions used for DTI assessment were the corpus callosum (CC) (i.e., the largest commissural tract in the human brain), the superior longitudinal fasciculus (SLF), and the inferior longitudinal fasciculus (ILF) (i.e., the largest association fiber bundles). Results The mean age of the ET patients and control subjects was 44.23 ± 18.91 and 37.45 ± 10.95 years old (P = 0.542). The fractional anisotropy (FA) values of the CC body (P = 0.003), ILF (p = 0.016), average diffusion coefficient (ADC) values of the CC body (p = 0.001), genu (P = 0.049), SLF (V < 0.001), and ILF (P < 0.001) differed between groups. After controlling for age and sex, there was no correlation between tremor severity and DTI parameters, but impaired integrity in the genu of CC FA (P = 0.035, r = 0.442) and the splenium of CC ADC (P = 0.007, r = 0.543) were related with a longer duration of tremor. Finally, positive family history was correlated with the splenium of CC FA and ADC (P = 0.008, r = 0.536; P = 0.027, r = 0.461) and ILF ADC (P = 0.011, r = –0.519). Conclusion In our study, major white matter structure changes were found in the ET patients. The results suggest that possible neurodegeneration also affects white matter structures in ET patients and that the duration of the tremor and family history are related with impaired integrity of white matter.

Cardiovascular involvement is uncommon in pediatric patients with hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli (STEC-HUS). In this case report we presented a case of 17-month-old toddler who had a sporadic type of STEC-HUS complicated by acute myocarditis. The patient was successfully treated by a single dose of eculizumab after six doses of therapeutic plasma exchange (TPE) were inefficient to prevent the cardiac complication. Hepatotoxicity was observed after a single dose of eculizumab. Hepatic and cholestatic enzyme levels slowly returned to normal within 6 months. To the best of our knowledge, this is the first case of myocarditis/cardiomyopathy treated with eculizumab in STEC-HUS. This case illustrates the need for vigilance regarding myocardial involvement and eculizumab-induced hepatotoxicity in STEC-HUS.

Background:: Hyperechoic breast lesions are a rare group of breast masses in routine practice. Most of these lesions are benign. However, they rarely may be malignant. Hyperechoic lesions can be evaluated using the same criteria for malignant lesions. Clinical history, mammographic appearance, and certain sonographic features (non-circumscribed margins, irregular shape, presence of hypoechoic areas, nonparallel orientation, and association with microcalcifications can be suggestive of malignancy). In this article, hyperechoic breast lesions with malignant pathology have been presented. Methods: : Seven cases during breast ultrasound examination were detected. Results:: Four patients had invasive ductal carcinoma, 1 patient had invasive lobular carcinoma, 1 patient had high-grade ductal carcinoma in situ (DCIS), and 1 patient had lymphoma. Ultrasonography of the breast showed a heterogeneous appearance in all the patients, microcalcification in two patients, and an ambiguous contour in one patient. Conclusion:: Hyperechoic breast lesions should be evaluated using specific sonographic criteria to prevent misdiagnosis and identify patients who require biopsy and further examination.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) accounts for 0.023% of all cases reported in pediatric patients. According to literature, only a handful of ALCAPA patients are able to reach adulthood. Clinical manifestations of ALCAPA range from fatigue during exercise to sudden death in adulthood. Herein, we described a 12-year-old symptomatic patient with ALCAPA who had severe chest pain after using salbutamol treatment for presumed asthma. ALCAPA is one of the curable versions of myocardial ischemia and infarction in childhood. Due to clinical findings in conjunction with electrocardiogram and echocardiography, a computed tomography scan with coronary angiography was performed and the diagnosis of ALCAPA was confirmed. We presented this case because ALCAPA-related myocardial ischemia and infarction in children are rare with only sporadic cases reported. This case illustrated the need for close monitoring and surgery as the best treatment for ALCAPA associated with myocardial infarction.

Reactive airway disease is a prevalent condition that can be detected in the early infancy period. The condition might also deteriorate into asthma in some cases. If infants do not respond to the treatment of persistent wheeze and coughing, other rare causes should be investigated. The complete form of vascular ring is an extremely uncommon congenital cardiovascular abnormality. Double aortic arch constitutes the most significant portion of the complete vascular ring anomalies. Clinical manifestations of the anomaly are mainly respiratory due to the tracheal compression and mimicking the conditions of asthma. There have not been many reports about the clinical presentations of double aortic arch being remarkably similar to the same clinical manifestations of asthma in the literature. As far as we can be sure, there have not been any reported cases about severe reactive airway disease that caused a patient to have a life-threatening condition in the pediatric intensive care unit. Herein, we present a 5-month-old girl who had double aortic arch. Her anatomical aberration was diagnosed by three-dimensional computed tomography angiography of thorax, and the anomaly mimicked the clinical characteristics of life-threatening severe reactive airway disease.

Essential tremor (ET) is the most common movement disorder which has both motor and non-motor findings such as neuropsychiatic symptoms. Alexithymia is defined as inability to identify and describe emotions experienced by one's self or others. In our study, we aimed to evaluate the neurocognitive and brain micro-structural correlates of alexithymia in ET. 40 ET patients (mean age = 53.05 ± 19.74 years), were included. Fahn-Tolosa-Marin Tremor Rating Scale, Toronto Alexithymia Scale (TAS), Beck Depression Inventory, Beck Anxiety Inventory and detailed neurocognitive evaluation were applied to all patients. The patients were divided into three groups based on their TAS scores: no alexithymia, probable alexithymia, definite alexithymia. Diffusion Tensor Imaging (DTI) was performed in all patients. The mean TAS score was 50.05 ± 10.06. Depressive symptoms and anxiety levels were higher in definite alexithymia (p < 0.001, p < 0.01). Partial correlation controlling for age, gender and educational level between alexithymia scores and each cognitive test showed significant association between similarities (p < 0.001) and phonemic verbal fluency (p = 0.04). Left orbitofrontal cortex average diffusion coefficient (ADC) value (p = 0.05), left anterior cingulate cortex fractional anisotropy (FA) value (p = 0.04), right cuneus FA value (p = 0.04), left amygdala ADC value (p = 0.01) and left insula ADC value (p = 0.02) were differed between groups. TAS and DTImetrics were not found to be independently associated with the level of anxiety (p < 0.001) and depressive symptoms (p < 0.01). As a conclusion, impairments in executive function and complex attention were correlated with higher levels of alexithymia in ET. Many micro-structural alterations were determined to be correlated with alexithymia levels.

To evaluate breast MRI and DWI and demographic features of pleomorphic invasive lobular carcinoma (pILC) and classic invasive lobular carcinoma (cILC). Invasive lobular (ILC) is the second most common breast malignancy after invasive ductal carcinoma (IDC) and constitutes the 8-14% of all invasive breast cancers. ILC morphologically can be classified into the classic, alveolar, solid, tubulolobular, and pleomorphic subtypes according to WHO. This study was performed retrospectively. The MRI and demographic features of 18 patients with 23 pILC were compared with those 22 consecutive patients with 27 cILC. There was no significant difference in demographic features of patients, MR appearance, kinetics, and ADC values between two groups. pILC, an aggressive subtype of ILC, cannot be differentiated from cILC with breast MRI.

Cardiogenic pulmonary edema (CPE) is a rare clinical condition of acute rheumatic fever (ARF) in the early stage. Generally, CPE can be convalesced by steroid and anticongestive treatment. Herein, we describe a case of a 14-year-old boy with ARF presenting with bilateral pulmonary edema secondary to acute mitral and aortic insufficiency. In this case, the pulmonary edema of ARF was successfully managed by combined surgical replacements of both valves.

Infective endocarditis (IE) is an uncommon infection in children. The recommended treatment for native valve endocarditis secondary to methicillin-susceptible Staphylococcus aureus infection is antistaphylococcal penicillins such as nafcillin or oxacillin. If the initial therapy fails in IE, it can lead to catastrophic results. Nowadays, daptomycin is the best alternative antimicrobial agent to treat children with severe infections, when standard antimicrobial therapy does not yield a result. Herein, in this article, we described a case of a 16-year-old boy who had aortic valve S. aureus endocarditis with septic embolization and stroke. The patient was successfully treated only with daptomycin as well as surgical therapy in the early phase of the infection.

Cor triatriatum sinister is a rare congenital cardiac anomaly. The anomaly is caused by a fibromuscular membrane that divides the left atrium into two cavities. This membrane can lead to the obstruction of left atrial flow and also create pulmonary venous hypertension. Pulmonary arteriovenous malformation (PAVM) is notorious for its aberrant blood flow between the pulmonary arteries and veins. Herein, we report a case of a 4-year-old toddler who had a unique form of pulmonary hypertension presenting with cor triatriatum sinister and diffuse PAVM. After the surgical treatment of cor triatriatum sinister, both pulmonary arteriovenous malformation and pulmonary hypertension disappeared.

Essential tremor (ET) is a complex, neurodegenerative disorder that includes motor and non-motor symptoms. There is growing interest in its non-motor features, including sleep disturbances (SD). There are no studies evaluating the brain structural correlates of SD in ET. We aimed to identify brain microstructural changes related to SD in ET. SD was evaluated using the Pittsburg sleep quality index (PSQI). Diffusion tensor imaging (DTI), with reported measures being fractional anisotropy (FA) and apparent diffusion coefficient (ADC), was used to evaluate microstructural brain changes. DTI data were compared in ET patients with vs. without SD. The mean age of 40 ET patients was 49.20 +/- 21.06 years. The mean PSQI score was 6.13 +/- 3.99, and 18 (45.0%) patients had SD. The mean PSQI score of patients with vs. without SD was 9.78 +/- 2.98 vs. 3.14 +/- 1.28 (p < 0.001). Patients with vs. without SD differed significantly with respect to several DTI findings: right (R) superior cerebellar peduncle ADC (p = 0.04), left (L) dorsolateral prefrontal cortex FA (p < 0.01), L frontooccipital fasciculus FA (p = 0.02), R posterior corona radiata (RPCR) FA (p = 0.01), L posterior corona radiata FA (p = 0.04), R posterior thalamic radiation (RPTR) FA (p = 0.02), and fornix FA (p = 0.03) Significant correlations between PSQI scores and RPCR FA (r = - 0.50, p = 0.02) and RPTR FA (r = - 0.67, p = 0.001) were also observed. Our findings suggest that certain brain changes may be associated with the clinical expression of SD in ET. These changes are discussed in terms of their possible neuroanatomical and physiological significance.

Objective Epicardial adipose tissue (EAT) is a metabolically active visceral fat depot that plays an important role in coronary atherosclerosis. In this study, our aim was to investigate the relationship between long-term major adverse cardiovascular events (MACEs) and EAT volume detected by coronary computed tomography angiography (CCTA) in patients with Type 2 diabetes mellitus (T2-DM) without previous coronary events. Methods A total of 127 patients with diabetes who underwent CCTA between 2012 and 2014 were enrolled retrospectively. The study population was divided into 2 groups according to whether they experienced or did not experience MACE, which was defined as cardiac death, non-fatal myocardial infarction or unstable angina requiring hospitalization, coronary revascularizations (percutaneous coronary intervention or coronary artery bypass grafting surgery), heart failure, peripheral arterial disease, or ischemic stroke. In both groups, EAT volumes were measured by CCTA. Results During 60±7 months follow-up period, 22 participants experienced MACEs. Data were evaluated with univariate and multivariate analyses and receiver operating characteristic (ROC) analysis. Age, male sex, coronary artery disease, hemoglobin A1c, glucose, creatinine, C- reactive protein, and cholesterol levels were found to be associated with MACE. EAT volume (odds ratio [OR]: 1.027; 95% confidence interval [CI]: 1.010‒1.044, p=0.002) and low-density lipoprotein (OR: 1.015; 95% CI: 1.000‒1.030, p=0.050) were found to be independent predictors for MACE. ROC analysis indicated that EAT volumes >123.2 mL had a 72.7% sensitivity and a 77.1% specificity for predicting long-term MACE in patients with T2-DM (area under the curve: 0.820; 95% CI: 0.733-0.908). Conclusion EAT volume is an independent predictor of long-term MACE in patients with T2-DM without previous coronary events. EAT volume may be used additionally in risk stratification for MACE besides the well-known vascular risk factors in patients with T2-DM.

Background: Tuberous sclerosis (TS) is an autosomal dominant and hereditary disorder. Cardiac rhabdomyoma and arrhythmias are the most deleterious risk factors linked to TS. Although arrhythmias in pediatric patients with TS who have cardiac rhabdomyoma have been frequently reported, arrhythmia in patients who have TS without rhabdomyoma is rarely reported in the literature. The study aimed to assess the susceptibility of pediatric patients who have TS without cardiac rhabdomyoma to cardiac arrhythmia using electrocardiographic (ECG) markers. Methods: This prospective study included 10 patients who had TS without cardiac rhabdomyoma. The control group was made up of 30 healthy children of the same age and sex as the patient group. P wave, P wave dispersion, QT dispersion, QTc dispersion, TP-e interval, and TP-e interval dispersion were calculated on 12-lead surface ECGs for each patient in both groups and compared. Results: P wave, P wave dispersion, QT dispersion, and QTc dispersion were found to be significantly higher in the patient group (P

Background. Fulminant myocarditis (FM) is a potentially lethal condition in children due to rapid progressive hemodynamic instability and cardiogenic shock. Patients with FM might show different clinical manifestations on emergency department admission. Case. Herein, we describe the case of a 12-year-old girl who was admitted to our institution’s emergency department due to complaints of abdominal pain and incessant vomiting. However, we detected an early onset of atrial fibrillation (AF) accompanied by FM. The patient’s condition of AF and severe hemodynamic disorder was successfully treated in our institution’s pediatric intensive care unit. Conclusion. To the best of our knowledge, this is the first report of the co-occurrence of FM and AF successfully treated in childhood. This case report will serve as a guide for the treatment of cases with FM accompanied by AF.

Background: The importance of pre-treatment Diffusion Tensor Imaging (DTI) parameters in determining the response to treatment after radiosurgery in patients with meningioma has not yet been clearly revealed. Objective: This study was conducted to determine tumor volume changes in terms of radiological response in patients with meningioma treated with Gamma Knife Radiosurgery (GKR) and to analyze the relationship between Total Tumor Volume (TTV) and Diffusion Tensor Imaging (DTI) parameters. In addition, we investigated whether the response to treatment can be predicted by pre-radiosurgery DTI findings. Methods: Fifty-four patients were assessed using MRI and DTI before and after GKR. Mean Diffusivity (MD), Fractional Anisotropy (FA), Radial Diffusivity (RD), and TTV of tumour were determined. Patients with 10% or more decrease in TTV after GKR were classified as group 1 and those with less than 10% decrease in volume or increase in volume were considered group 2. The relationships between MD, RD, and FA values and TTV were investigated. Results: A decrease of 46.34% in TTV was detected in group 1 after GKR, while TTV increased by 42.91% in group 2. The lowest pre-treatment FA value was detected in group 1. In addition, after GKR, FA values showed a significant increase in group 1. MD and RD values increased in both groups after radiosurgery. There was a negative correlation between pre-treatment FA, RD, and MD values after radiosurgery. Conclusions: Detection of low FA values due to the poor fiber content in meningioma before radiosurgery may be a guide in predicting the response to treatment. Further studies are required to have a better understanding of the relationship between pre- and post-treatment follow-up FA values and tumor volume in determining the efficacy of GKR in patients with meningioma.

Sudden cardiac arrest (SCA) is the sudden cessation of regular cardiac activity so that the victim becomes unresponsive, with no signs of circulation and no normal breathing. Asystole, ventricular tachycardia (VT), ventricular fibrillation (VF), and pulseless electrical activity are the underlying rhythm disturbances in the pediatric age group. If appropriate interventions (cardiopulmonary resuscitation-CPR and/or defibrillation or cardioversion) are not performed rapidly, this condition progresses to sudden death. There have not been many reported cases of the approach and treatment of cardiac arrhythmias after SCA. Herein, we would like to report a case of a 15-year-old female patient with dilated cardiomyopathy (DCM) who was admitted to our clinic a year ago, and while her left ventricular systolic functions were improved, SCA suddenly occurred. Since the SCA event occurred in another city, intravenous treatment of amiodarone was done immediately and was switch to continuous infusion dose of amiodarone until the patient arrived at our institution's pediatric intensive care unit (PICU) 3 hours later. During the patient's 20-day PICU hospitalization, she developed pulseless VT and VF from time to time. The patient's pulseless VT and VF attacks were brought under control by the use of a defibrillator and added antiarrhythmic drugs (amiodarone, flecainide, esmolol, and propafenone). Intriguingly, therapy-resistance bigeminy with premature ventricular contractions (PVCs) continued despite all these treatments. The patient did not have adequate blood pressure measured by invasive arterial blood pressure monitoring while having bigeminy PVCs. The intermittent bigeminy PVCs ameliorated rapidly after intermittent boluses of lidocaine. In the end, multiple antiarrhythmic therapies and intermittent bolus lidocaine doses were enough to bring her cardiac arrhythmias after SCA under control. This case illustrates that malign PVC's should be taken very seriously, since they may predispose to the development of VT or VF. Also, this case highlights the importance of close vigilance of arterial pressure tracings of patients with bigeminy PVCs which develop after SCA and should not be accepted as normal.

Double aortic arch (DAA) is a common form of complete vascular ring. The condition leads to airway obstruction and compression of the esophagus. A balanced type of DAA is an extremely rare anomaly. The anatomical aberration cannot be easily distinguished by transthoracic echocardiography when an infant has chronic respiratory distress. Herein we presented a case of an 11-month-old infant who had chronic respiratory distress and a balanced type of DAA.

Background/aim The evolving understanding of essential tremors (ET) has led to a new definition of neurodegenerative disease, pointing to diffuse brain network involvement with a wide spectrum of associated motor and nonmotor symptoms. Considering the fact that white matter should also be affected by the nature of the disease, our study aimed to evaluate the integrity of white matter and its clinical correlations in ET patients. Materials and methods Approximately 40 patients diagnosed with ET and 40 age-and sex-matched control subjects (ranging between 18–80 years old) were included in the study. The sociodemographic characteristics and clinical features of the patients were recorded. Tremors were assessed using the Fahn-Tolosa-Marin Tremor Rating Scale (FTM-TRS). Diffusion Tensor Imaging (DTI) was performed to evaluate the integrity of white matter. The selected white matter regions used for DTI assessment were the corpus callosum (CC) (i.e., the largest commissural tract in the human brain), the superior longitudinal fasciculus (SLF), and the inferior longitudinal fasciculus (ILF) (i.e., the largest association fiber bundles). Results The mean age of the ET patients and control subjects was 44.23 ± 18.91 and 37.45 ± 10.95 years old (P = 0.542). The fractional anisotropy (FA) values of the CC body (P = 0.003), ILF (p = 0.016), average diffusion coefficient (ADC) values of the CC body (p = 0.001), genu (P = 0.049), SLF (V < 0.001), and ILF (P < 0.001) differed between groups. After controlling for age and sex, there was no correlation between tremor severity and DTI parameters, but impaired integrity in the genu of CC FA (P = 0.035, r = 0.442) and the splenium of CC ADC (P = 0.007, r = 0.543) were related with a longer duration of tremor. Finally, positive family history was correlated with the splenium of CC FA and ADC (P = 0.008, r = 0.536; P = 0.027, r = 0.461) and ILF ADC (P = 0.011, r = –0.519). Conclusion In our study, major white matter structure changes were found in the ET patients. The results suggest that possible neurodegeneration also affects white matter structures in ET patients and that the duration of the tremor and family history are related with impaired integrity of white matter.

Aim The exact mechanisms that trigger the onset of puberty are not well known. Adipomyokines are postulated to stimulate the central neural network. In the present study, we investigated irisin levels in girls with central precocious puberty (CPP), slowly progressing precocious puberty (SPPP), or premature thelarche (PT); we also studied prepubertal girls and to determine if this adipomyokine could be used as a marker in this context. Methods A total of 94 girls including 33 with CPP, 31 with precocious puberty (PP) variants (SPPP or PT), and 30 healthy controls were enrolled to the study. The mean irisin levels were compared between groups. The bivariate correlations of irisin levels with clinical and laboratory parameters were assessed. Multivariate linear regression analysis was performed to determine independent predictive factors of irisin levels. Results Irisin levels were higher in the CPP group compared with the other groups (CPP group: 723.25 ± 62.35 ng/mL; PP variants group: 529.60 ± 39.66 ng/mL; and control group: 325.03 ± 27.53 ng/mL) (P Conclusions The mean irisin levels were higher in patients with CPP compared with other groups. The results of this study imply that increased irisin levels may be used as a marker of CPP provided that these findings are confirmed in larger prospective studies.

Background: To evaluate the short-term effectiveness of reduced-osmolarity oral rehydration salt formulation (ORS) and propranolol in children diagnosed with postural orthostatic tachycardia syndrome (POTS) in head-up tilt testing (HUTT).Methods: Children were admitted with symptoms of orthostatic intolerance (OI) occurring in a standing position and disappearing in the supine position. Patients with heart rate increments of >= 40 bpm and symptoms of OI constituted the pediatric POTS group in HUTT. A total of 70 pediatric patients with POTS were included in the study. POTS patients were divided into two groups based on whether they were prescribed reduced-osmolarity ORS and propranolol or not. The study group comprised patients on a regimen of reduced-osmolarity ORS and propranolol (n = 34), while the control group comprised patients who were not prescribed any medication (n = 36). The frequency of symptoms and standardized symptom scores were analyzed before and after 3 months of treatment in both groups.Results: The post-treatment frequency of syncopal attacks was significantly reduced in both groups (P < 0.01 for both groups), but the post-treatment standardized symptom scores were significantly reduced in the pediatric study group compared with the control group (P < 0.01).Conclusion: The frequency of syncopal attacks was significantly reduced and the symptom scores for OI were improved in the study group. The improvement in OI symptom scores was better in the treatment group than in the control group. The control group symptoms persisted and caused extreme difficulty in their daily activities. In view of its clinical efficacy, we strongly advocate the use of combined treatment of reduced-osmolarity ORS and low-dose propranolol in pediatric patients with POTS. (C) 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Cor triatriatum sinister is a rare congenital cardiac anomaly. The anomaly is caused by a fibromuscular membrane that divides the left atrium into two cavities. This membrane can lead to the obstruction of left atrial flow and also create pulmonary venous hypertension. Pulmonary arteriovenous malformation (PAVM) is notorious for its aberrant blood flow between the pulmonary arteries and veins. Herein, we report a case of a 4-year-old toddler who had a unique form of pulmonary hypertension presenting with cor triatriatum sinister and diffuse PAVM. After the surgical treatment of cor triatriatum sinister, both pulmonary arteriovenous malformation and pulmonary hypertension disappeared.

Background Essential tremor (ET) is disease with both motor and non-motor features. Notable among the non-motor features is cognitive impairment. While this impairment has been attributed to cortico-thalamo-cerebellar pathway pathology, it is likely that a more complicated involvement of brain structures underlies cognitive function in ET. Objective To evaluate the brain microstructural changes of both white matter and grey matter in ET using region of interest based diffusion tensor imaging (DTI), and to correlate these changes with cognitive function assessed during detailed neuropsychological testing. Method Thirty-five non-demented ET patients with a range of cognitive function (Clinical Dementia Rating = 0-0.5, mean age = 57.5 ± 16.7 years, age range = 23-76 years) underwent a comprehensive neuropsychological evaluation and brain magnetic resonance imaging, including DTI. DTI findings were reported as fractional anisotropy, average diffusion coefficient, these values were evaluated for 32 ROIs. Cognitive domains included attention, visuospatial functions, executive function, verbal memory, visual memory, and language. Domain Z-scores were calculated each cognitive domain and compared for each brain region. Results Microstructural changes in prefrontal cortical areas (dorsolateral, ventrolateral), paralimbic and limbic structures (posterior cingulate cortex, precuneus, hippocampus), basal ganglia (substantia nigra, putamen, caudate nucleus) and white matter bundles (corpus callosum, anterior thalamic radiation, longitudinal fasciculus, frontooccipital fasciculus, etc.) correlated with specific domains of cognitive function in ET patients. Conclusion These data suggest that not only the cerebello thalamocortical pathway, but numerous other brain structures are related to level of cognitive performance and possibly underlie cognitive dysfunction in ET.

https://www.karger.com/?DOI=10.1159/000495021

Aim: To investigate the relationship of cartilage loss in tibiofemoral and patellofemoral joints with the number, size and location of loose bodies in secondary synovial chondromatosis (SC). Methods: Eighty-eight patients with secondary SC were evaluated retrospectively. The size and location of loose bodies were evaluated by both X-ray and magnetic resonance imaging. The relationship between cartilage lesions and the number, location and size of loose bodies were assessed by Chi-square test and Fisher’s exact test. Results: When the relationship between the presence of loose body and cartilage damage was evaluated, it was observed that 83% of subjects (n=74) had cartilage loss at the tibiofemoral joint, 75% (n=66) on the medial and 9% (n=8) of patients had on the lateral side. It was determined that when the number of loose bodies was ≤5, the mean diameter was 7.3 mm (2-21 mm). It was 12.7 mm (2-30 mm) when the number was >5. The most frequently affected locations were the posterior compartment of the posterior cruciate ligament and the superior compartment of the popliteal fossa, regardless of the degree of cartilage loss. Conclusion: We concluded that the higher the cartilage damage, the higher the number and size of loose bodies. We assume that our study provides insight into further investigations to study new classification system for secondary SC in the knee joint.

Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder in which neurological basis is largely unknown. The Corpus Callosum (CC) is the main commissure that connects the cerebral hemispheres. Previous evidence suggests the involvement of the CC in the pathophysiology of autism. Aim: The aim of our study is to assess whether there were any changes in Corpus Callosum (CC) area and volume and to reveal the relationship between Diffusion Tensor Imaging (DTI) features in genu and splenium of corpus callosum in children with ASD. Methods: Eighteen patient and 15 controls were recruited. The volumetric sagittal TI images were used to provide measurements of midsagittal corpus callosum surface area while FA, MD, RD, and ADC values were extracted from genu and splenium of corpus callosum after which the correlation in the area and volume in ASD children was examined. Results: CC area and volume in children with ASD were decreased than controls. FA values obtained from the genu and splenum of CC were significantly lower and RD values were significantly higher. A positive correlation was observed between the FA of the genu and splenium and area and volume of the CC. There was a negative correlation between ADC, MD and RD of CC and area and volume measurements. Conclusion: The conclusions in the interrelations of morphometric and DTI data may demonstrate a likelihood of damages in the axons and cortical neurons. The results showed that there existed microstructural damages from the DTI findings. Furthermore, the decrease in FA could be a representation of the reduction in the myelination in nerve pathways, impaired integrity, reduced axonal density, and organization. Indeed, the changes in volumetric and microstructural of CC could be useful in evaluating underlying pathophysiology in children with autism.

PurposeThe aim of the study was to investigate any metabolic changes on magnetic resonance spectroscopy (MRS) throughout the visual pathway of the brain in patients with glaucoma and a control group and correlate the results with clinical findings.Material and MethodsA total of 87 patients were enrolled in the study, 30 healthy controls, 25 glaucoma, 16 suspected glaucoma (GS) and 16 ocular hypertension (OHT) patients. A single voxel MRS on TE 30ms was performed by placing the volume of interest (VOI) on the corpus geniculatum laterale (CGL) and primary visual cortex (VC). Peak values of metabolites, such as N-acetyl aspartate (NAA), creatine (Cr), choline (Cho) and Myo-inositol (Ins) were investigated on MRS. The MRS results were correlated with age, intraocular pressure (IOP), retinal nerve fiber length (RNFL), mean deviation (MD) and cup disk ratio (CD).ResultsThe NAA values obtained from the CGL in glaucoma and GS cases were lower than the healthy control group. The Cho values at CGL in glaucoma were lower than GS and controls. There was a negative correlation between NAA values of the VC and CD in glaucoma cases. Additionally, there was a negative correlation between age and RNFL in both glaucoma and GS cases.ConclusionThe use of MRS can reveal neurodegeneration in CGL and VC in patients with glaucoma. Depiction of metabolic changes throughout the visual pathways via MRS will guide the treatment planning and follow-up in glaucoma and GS cases.

Aim: The aim of our study was to determine whether the diffusion properties of the auditory pathways alter between patients with Neurofibromatosis type 1 (NF1) and the healthy subjects. DTI can well demonstrate FA and ADC changes in auditory tracts and it may be a guide to identify the candidates for hearing loss among NF1 children. Methods: The study population consisted of 43 patients with NF1 and 21 healthy controls. Diffusion tensor imaging (DTI) was used to measure apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values from lemniscus lateralis, colliculus inferior, corpus geniculatum mediale and Heschl's gyrus. The results were compared with those of the control group. Results: The ADC values of lateral lemniscus, colliculus inferior and corpus geniculatum mediale were significantly higher in NF1 compared to those of the control group. On the other hand, decreased FA values were observed in lateral lemniscus and colliculus inferior in patients with NF1. Conclusion: The increase in ADC and reduction in FA in the auditory pathways of patients with NF1 may suggest microstructural alterations, such as a decrease in the number of axons, edema or inflammation in the auditory tracts.

Aim: We reported a rare case of an anomalous origin of the left pulmonary artery (AOLPA) from the ascending aorta associated with pulmonary atresia and right sided aortic arch diagnosed at a relatively late age. Case: 13 year-old girl presented to our pulmonology clinic with complaints of cough and dyspnea. On chest X-ray cardio thoracic ratio was increased and shadow of the arch was not seen on the left. On her echocardiography pulmonary arteries couldn't be demonstrated. Computed tomography Case Study Selcuk et al.; BJMMR, 5(5): 719-723, 2015; Article no.BJMMR.2015.075 720 angiography was performed to the patient. Right sided arch aorta with pulmonary atresia associated with an anomalous origin of the left pulmonary artery from the ascending aorta with a well developed collateral blood supply to the right lung and coexisting pulmonary infection was detected. She was managed medically. She is on the first year of her follow up. Her medical status is stable. Conclusion: We presented a case of relatively rarely seen anomalous origin of the left pulmonary artery from the ascending aorta with a rarely seen association of pulmonary atresia and wanted to take attention to its presentation in a late childhood.