Mild Encephalitis/Encephalopathy with a Reversible Lesion in The Splenium.

Mild encephalitis/encephalopathy with a reversible lesion in the splenium (MERS) is a clinico-radiological syndrome with mild central nervous system symptoms and a reversible lesion in the splenium of the corpus callosum. It is mainly associated with a number of viral and bacterial infections, including Coronavirus disease 2019 (COVID-19). In this paper, we report four MERS patients. One had a mumps infection, the second had aseptic meningitis, the third had Marchiafava-Bignami disease, and the fourth had atypical pneumonia associated with COVID-19 infection.

Effectiveness of carotid council in the treatment of carotid artery disease: Early-term outcomes of the multidisciplinary approach.

OBJECTIVES: Carotid arterial stenosis could be treated by surgical or percutaneous stenting. In this study, we aimed to investigate the effectiveness of the carotid council on the outcomes of patients with carotid artery disease. METHODS: In this retrospective study, we analyzed the patients who had undergone carotid arterial revascularization from April 2014 to July 2022 in our hospital. All patients were evaluated in carotid council, which is constituted by neurologist, cardiologist and cardiovascular surgeon. Patient-specific treatment procedure was decided in the council. Demographics and early-term follow-up results of the patients were evaluated. RESULTS: Totally 95 procedures in 85 patients were analyzed during the study period. 27.4 % of the patients had significant contralateral carotid arterial stenosis. In 88 (92.6%) procedures, patients were treated by carotid endarterectomy, and 5 procedures were performed under regional anesthesia. Shunt usage was 6.0% during the surgery, and arteriotomy was repaired with primary sutures in 87.3%. Stent implantation was performed in 7 patients. There were 5 neurological adverse events after the carotid endarterectomy and 2 neurological events were after carotid arterial stenting. In each treatment group, one patient died after the procedure. In the follow-up period, restenosis was observed just in a patient who was treated with carotid endarterectomy and primary repair. CONCLUSION: Although carotid artery disease could be treated in accordance with the guidelines, treatment procedures should be patient-specific. Carotid councils might be helpful in giving patient-specific decisions, thereby providing the patient-based treatment procedure and improving the outcomes of the patients with carotid artery disease.

Reconsidering the Relationship Between Hand Preference and Cerebral Vascular Dominance: A Computed Tomography (CT) Angiography Study.

Background: To date, it has been suggested that there may be many genetic, environmental, and vascular factors that affect hand preference. In previous studies evaluating the relationship between cerebral dominance and hand preference, carotid and vertebral artery (VA) Doppler ultrasonography (USG) was generally preferred; and these studies only measured VA diameters. Unlike other studies, we aimed to reevaluate the relationship between hand preference and cerebral vascular dominance by measuring VA and internal carotid artery (ICA) diameters. In addition, we used carotid and VA computed tomography (CT) angiography instead of Doppler USG. Methods and Material: A total of 345 participants were included in the study. The results of carotid and VA CT angiography taken during hospitalization were retrospectively evaluated by two radiologists, and the Edinburgh Hand Preference Questionnaire was applied to these patients. Results: In right-handed patients, the diameter of the left VA was significantly larger than the diameter of the right VA (p = 0.005). In left-handed patients, the diameter of the left ICA was larger than the diameter of the right ICA, but the difference was not statistically significant (p = 0.055). There was no significant difference between the diameter of the right and left ICA in right-handed patients (p = 0.771). Conclusions: In our study, we found a correlation between the dominant hemisphere VA diameter and hand preference. Using CT angiography, we were able to eliminate many challenges of ultrasonography that make radiological evaluation difficult, such as differences of opinion between radiologists, and technical and anatomical reasons.

A rare case of cardiac alveolar echinococcosis without any complications for eight years / Un caso raro de equinococosis alveolar cardíaca sin complicaciones durante ocho años

No disponible

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

BACKGROUND: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies. METHODS: We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019. We defined macrocephaly as occipito-frontal HC size at or greater than 2 standard deviations (SD) above the mean for age and sex on standard growth charts. PTEN gene sequence analysis was performed using a MiSeq next generation sequencing (NGS) platform, (Illumina). CONCLUSION: PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM_000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM_000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly.

Prognostic Significance of Fragmented QRS in Patients with Acute Ischemic Stroke.

OBJECTIVES: There are studies in the literature showing the clinical importance of fragmented QRS (fQRS) in many systemic diseases. In this study, we aimed to investigate the frequency and prognostic value of fQRS on electrocardiogram (ECG) in patients with acute ischemic stroke. MATERIALS AND METHODS: We prospectively enrolled 241 patients with acute ischemic stroke between January 2018 and January 2020. ST depression and elevation, QRS duration, PR interval, RR interval, QTc interval, QTc dispersion (QTcd), T negativity, Q wave, and fQRS were evaluated on ECG. Brain computed tomography (CT) and diffusion magnetic resonance imaging (MRI) images were obtained in the acute period and the National Institute of Health Stroke Scale (NIHSS) score was calculated for each patient. Patients were followed up for a period of two years. RESULTS: The 241 patients comprised 121 (50.2%) men and 120 (49.8%) women with a mean age of 67.52 ± 13.00 years. In Cox regression analysis, age, NIHSS, QTcd, and fQRS were found to be independent predictors of mortality (age, hazard ratio [HR]: 1.063, p < 0.001; NIHSS, HR: 1.116, p = 0.006; QTcd, HR: 1.029, p = 0.042; fQRS, HR: 2.048, p = 0.037). Two-year mortality was higher in patients with fQRS than in patients without fQRS (31% vs. 9%, p = 0.001). CONCLUSIONS: The fQRS is associated with poor prognosis in patients with acute ischemic stroke.

Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

Objective: The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD). Methods: Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary DSD team were included. All participants and their parents were requested the complete the Pediatric Quality Of Life Inventory (PedsQL) and the Strengths and Difficulties Questionnaire. The psychiatric diagnoses of the patients were evaluated according to Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version. Results: There was no significant difference between the 46,XX DSD and 46,XY DSD groups for both child and parent in Total PedsQL score. In the subscale scores, the PedsQL Physical Functionality Score reported by children was significantly lower for the 46,XX DSD group than for the 46,XY DSD group (p=0.01). There was a psychiatric diagnosis in 25.8% of cases. The PedsQL School Functionality Score reported by children in the group with psychiatric diagnosis was significantly lower than the group without psychiatric diagnosis (p=0.018). In the group with psychiatric diagnosis, the PedsQL Total Score and the subscale scores (Emotional Functionality Score, Social Functionality Score, School Functionality) reported by parents were significantly lower than in parents of the group without psychiatric diagnosis. Conclusion: This study emphasized that psychiatric disorders in DSD patients negatively affect the QoL. Psychiatric support and counseling from a multidisciplinary team are very important for families affected by DSD.

Surgical Treatment of Vertebral Artery Stenosis: An Overlooked Surgery with Low Morbidity.

BACKGROUND: Vertebral artery (VA) stenosis as a cause of ischemic events and its surgical treatment is an overlooked subject. After reporting our initial results, the results of VA stenosis operations and the follow-up studies are analyzed. MATERIAL AND METHODS: This retrospective, single-center study includes 43 symptomatic proximal VA stenosis patients between September 2012 and March 2019. The demographics and clinical data were obtained from the hospital records. Doppler ultrasonography and computed tomography angiography were used to establish the diagnosis and for follow-up. The surgical procedures were as follows: VA transposition in 30 (69.8%), VA bypass 8 (18.6%), saphenous vein interposition in VA in 4 (9.3%), and decompression of kinking in 1 (2.3%) patient. Eleven patients (25.5%) had concomitant carotid surgery. The Kaplan-Meier method was used to calculate the survival and patency rates. RESULTS: Most common symptoms were vertigo and loss of balance in 38 (88.4%) and 14 (32.6%) patients, respectively. Twenty-five patients were males (58.1%), and the average age was 64.6 ± 9.8 (50-90) years. The 30-day death, 30-day stroke, and 30-day death/stroke rates were 2.3%, 4.7%, and 7%, respectively. Ten patients (23.3%) had morbidities which were related to the intervention. Horner syndrome was found in 5 (11.6%) patients, and facial nerve injury was found in one (2.3%) patient. Three (7.1%) patients died during the follow-up period, and overall survival of the patients at 3 years was 91.4% ± 5.8%. Two (4.7%) patients had cerebrovascular events (CVEs) occurred during the follow-up. One- and three-year CVE-free survivals were 97.1% ± 2.9% and 90.1% ± 7.2%, respectively. Two patients (5.4%) had restenosis. One- and three-year patency of VA after procedure was 89.1% ± 7.4%. Thirty-seven (86%) patients had complete recovery of symptoms after surgery; 5 patients (11.6%) kept their preoperative symptoms in different levels. CONCLUSIONS: Vertebral artery surgery can be performed with acceptable mortality and morbidity rates. Restenosis-free, CVE-free, and overall survival rates are satisfactory.

Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital.

Background Psychiatric consultation is important in the follow-up of disorders of sex development (DSD) patients. In this study, we aimed to present the 12-year psychiatric follow-up data of the patients who were referred by Ege University Medical Faculty DSD Multidisciplinary Team and followed up in Child and Adolescent Psychiatry. Methods Psychiatric data of 118 patients, who were followed by the DSD multidisciplinary team between 2007 and 2019, were reviewed retrospectively. The psychiatric diagnoses of the patients were evaluated according to semi-structured interview form Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version. Results The mean age of the 118 cases was 13.21 years (±7.18). Endocrine diagnoses of the cases were 46 XX DSD in 35 (29.6%), 46 XY DSD in 81 (68.7%), and chromosome disorders in 2 (1.7%). There was at least psychiatric diagnosis in 36 (30.5%) cases. The most common psychiatric diagnosis was attention deficit and hyperactivity disorder (ADHD) (n = 18, 15.3%). ADHD was most common in congenital adrenal hyperplasia (n = 4, 22.4%) and androgen synthesis defects (ASD) (n = 4, 22.4%); depression was most common in complete gonadal dysgenesis and ASD (n = 3, 23.1%); and mental retardation was most common in ASD (n = 3, 37.5%). Conclusions In order to provide a healthy perspective for cases with DSD, it is important to make a psychiatric evaluation and to share observations and clinical findings in regular team meetings.

Analysis of long non-coding RNA (lncRNA) expression in hepatitis B patients.

Long non-coding RNAs (lncRNAs) have been implicated in numerous biological processes, including epigenetic regulation, cell-cycle control, and transcriptional/translational regulation of gene expression. Differential expression of lncRNAs and disruption of the regulatory processes are recognized as critical steps in cancer development. The role of lncRNAs in hepatitis B virus (HBV) infection is not well understood. Here we analyzed the expression of 135 lncRNAs in plasma samples of 82 HBV patients (classified as chronic patients, inactive carriers, or resolved patients) at diagnosis and at 12 months of treatment in relation to control group (81 healthy volunteers). We also investigated the effect of small interfering RNA (siRNA)-mediated silencing of lincRNA-SFMBT2 on HBV-positive human liver cancer cell line. lncRNA expression was analyzed by quantitative reverse transcription-polymerase chain reaction (qRT-PCR). Chemically synthesized siRNAs were transfected into the cell lines using Lipofectamine 2000 Reagent (Thermo Fisher Scientific). HBV DNA and HBsAg and HBeAg were detected in transfected cultures by real-time PCR and ELISA, respectively, using commercial kits. We observed changes in lncRNA expression in all three HBV groups, compared to control group. Most notably, the expression of anti-NOS2A, lincRNA-SFMBT2, and Zfhx2as was significantly increased and expression of Y5 lncRNA was decreased in chronic HBV patients. A decreased Y5 expression and increased lincRNA-SFMBT2 expression were observed in inactive HBsAg carriers. The expression of HOTTIP, MEG9, and PCAT-32 was increased in resolved HBV patients, and no significant change in the expression of Y5 was observed, compared to control group. siRNA-mediated inhibition of lincRNA-SFMBT2 decreased the level of HBV DNA in human liver cancer cells. Further research is needed to confirm the prognostic as well as therapeutic role of these lncRNAs in HBV patients.

Hepatitis A, B, C and HIV seroprevalence among Syrian refugee children admitted to outpatient clinics.

Viral hepatitis is the most common cause of serious health problems such as liver cirrhosis and hepatocellular carcinoma (HCC). Leading to immunodeficiency disorders through different mechanisms, Human Immunodeficiency Virus (HIV) causes the development of severe secondary infections. Hepatitis A (HAV) is thought to spread by the faecal-oral route, while Hepatitis B (HBV), Hepatitis C (HCV) and HIV are mostly transmitted vertically during childhood. In our study, we aimed to determine the seroprevalence of HAV, HBV, HCV and HIV among Syrian refugee children who were admitted to outpatient clinics. We conducted a retrospective review of data concerning 171 Syrian children aged between 0-18 years admitted between April 2014 and December 2015 to the outpatient infectious disease clinic of ?zmir Tepecik Training and Research Hospital and the social welfare outpatient clinic for Syrian refugees for reasons other than jaundice. Serum samples from patients were studied for HAV antibody IgG (anti-HAV IgG), HBV surface antigen (HBsAg), antibodies against HBV surface antigen (anti-HBs), antibodies against HBV core antigen (anti-HBc total), HCV antibody (anti-HCV) (anti-HIV) with the ELISA (Enzyme-Linked Immunosorbent Assay) method. In this study 51% of patients were female, with a mean age of 6.52 years among all patients. Six of the 140 patients (4.2%) scanned for HBV among the patients enrolled in the study were HBsAg and anti-HBc total positive and anti-HBs negative. Three patients (2.1%) were HBsAg negative, and anti-HBc total and anti-HBs positive, which indicated they had previously recovered from an HBV infection. HBsAg, anti-HBs, anti-HBc total data for 140 patients (81.9%), anti-HCV data for 109 patients (63.8%), anti-HIV data for 88 patients (51.5%) and HAV IgG data for 86 patients (50.3%) were obtained. Due to migration from regions in Syria where there is no regular follow-up of HBV vaccination in children, HBsAg seroprevalence of refugee children is thought to be higher than in other children in Turkey and anti-HBs positivity is thought to be lower. We expected to see a higher seroprevalence of anti-HCV and anti-HIV in Syria due to the lack of health facilities such as non-regular anti-HCV and anti-HIV screening before blood transfusions and during pregnancy in all regions of Syria. Yet in this study, the anti-HCV, anti-HIV seroprevalence of Syrian refugee children was similar to that in Turkey. According to the results, if the children of asylum seekers are admitted to the national HAV and HBV vaccination schedule, hepatitis infections and their complications may be prevented.