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Introduction: Dialysis patients are often prescribed a large number of medications to improve metabolic control and manage coexisting comorbidities. However, some studies suggest that a large number of medications could also detrimentally affect patients’ health-related quality of life (HRQoL). Therefore, this study aims to provide insight in the association between the number of types of medications and HRQoL in dialysis patients. Methods: A multicentre cohort study was conducted among dialysis patients from Dutch dialysis centres 3 months after initiation of dialysis as part of the ongoing prospective DOMESTICO study. The number of types of medications, defined as the number of concomitantly prescribed types of drugs, was obtained from electronic patient records. Primary outcome was HRQoL measured with the Physical Component Summary (PCS) score and Mental Component Summary (MCS) score (range 0–100) of the Short Form 12. Secondary outcomes were number of symptoms (range 0–30) measured with the Dialysis Symptoms Index and self-rated health (range 0–100) measured with the EuroQol-5D-5L. Data were analysed using linear regression and adjusted for possible confounders, including comorbidity. Analyses for MCS and number of symptoms were performed after categorizing patients in tertiles according to their number of medications because assumptions of linearity were violated for these outcomes. Results: A total of 162 patients were included. Mean age of patients was 58 ± 17 years, 35% were female, and 80% underwent haemodialysis. The mean number of medications was 12.2 ± 4.5. Mean PCS and MCS were 36.6 ± 10.2 and 46.8 ± 10.0, respectively. The mean number of symptoms was 12.3 ± 6.9 and the mean self-rated health 60.1 ± 20.6. In adjusted analyses, PCS was 0.6 point lower for each additional medication (95% confidence interval [95% CI]: −0.9 to –0.2; p = 0.002). MCS was 4.9 point lower (95% CI: −8.8 to –1.0; p = 0.01) and 1.0 point lower (95% CI: −5.1–3.1; p = 0.63) for the highest and middle tertiles of medications, respectively, than for the lowest tertile. Patients in the highest tertile of medications reported 4.1 more symptoms than in the lowest tertile (95% CI: 1.5–6.6; p = 0.002), but no significant difference in the number of symptoms was observed between the middle and lowest tertiles. Self-rated health was 1.5 point lower for each medication (95% CI: −2.2 to –0.7; p < 0.001). Discussion/Conclusion: After adjustment for comorbidity and other confounders, a higher number of medications were associated with a lower PCS, MCS, and self-rated health in dialysis patients and with more symptoms.

INTRODUCTION: Protein energy wasting (PEW) is the most important risk factor for morbidity and mortality in hemodialysis patients. Inadequate dietary protein intake is a frequent cause of PEW. Recent studies have identified fibroblast growth factor 21 (FGF21) as an endocrine protein sensor. This study aims to investigate the potential of FGF21 as a biomarker for protein intake and PEW and to investigate intradialytic FGF21 changes.METHODS: Plasma FGF21 was measured using an enzyme-linked immunoassay. Complete intradialytic dialysate and interdialytic urinary collections were used to calculate 24-h urea excretion and protein intake. Muscle mass was assessed using the creatinine excretion rate and fatigue was assessed using the Short Form 36 and the Checklist Individual Strength.RESULTS: Out of 59 hemodialysis patients (65 ± 15 years, 63% male), 39 patients had a low protein intake, defined as a protein intake less than 0.9 g/kg/24-h. Patients with a low protein intake had nearly twofold higher plasma FGF21 compared to those with an adequate protein intake (FGF21 1370 [795-4034] pg/mL versus 709 [405-1077] pg/mL;P < 0.001). Higher plasma FGF21 was associated with higher odds of low protein intake (Odds Ratio: 3.18 [1.62-7.95] per doubling of FGF21; P = 0.004), independent of potential confounders. Higher plasma FGF21 was also associated with lower muscle mass (std β: -0.34 [-0.59;-0.09];P = 0.009), lower vitality (std β: -0.30 [-0.55;-0.05];P = 0.02), and more fatigue (std β: 0.32 [0.07;0.57];P = 0.01). During hemodialysis plasma FGF21 increased by 354 [71-570] pg/mL, corresponding to a 29% increase.CONCLUSION: Higher plasma FGF21 is associated with higher odds of low protein intake in hemodialysis patients. Secondarily, plasma FGF21 is also associated with lower muscle mass, less vitality, and more fatigue. Lastly, there is an intradialytic increase in plasma FGF21. FGF21 could be a valuable marker allowing for objective assessment of PEW.

Giriş: Şiddetli ve erken başlangıçlı obezitenin genetik nedenlerinde monogenik obezite formları önemli bir yer tutmaktadır. Bu çalışmada, kliniğimizde monogenikobezite ön tanısı ile takip edilen olguların klinik ve moleküler genetik analiz sonuçlarının değerlendirilmesi amaçlanmıştır.Gereç ve Yöntem: 2016-2018 yılları arasında kliniğimizde monogenik obezite ön tanısı ile moleküler genetik analiz yapılan olguların demografik, klinik vebiyokimyasal verileri geriye yönelik incelendi ve kaydedildi. Bulgular: Çalışmaya toplam 47 obez olgu (20 kız, 39 pubertal, ortalama yaş 14,3±3,2 yıl) alındı. Çalışmaya dahil edilen üç olguda MC4R’de patojenik varyant,bir olguda veri tabanında patojen varyant olarak kabul edilmeyen LEPR’de heterozigot varyant saptandı. MC4R geninde sekans varyantı sıklığı %6,4, LEPRgeninde sekans varyantı sıklığı %2,1 olarak bulundu. Sonuç: Çalışmamızda monogenik obezite şüphesiyle tetkik edilen çocukların %8,5’inde (n=4) sekans varyantı saptandı. Bu olgularda obezite yaşamın ilk biryılında gelişmişti ve ebeveynlerden en az birinde obezite mevcuttu. Bu nedenle, erken başlangıçlı obeziteye, ailesel obezite öyküsü eşlik ediyor ise ayırıcı tanıdaöncelikle monogenik obezite formlarından olan MC4R defekti düşünülmelidir., Introduction:Monogenic forms of obesity have an important place in the geneticcauses of severe and early-onset obesity. In this study, it was aimed to evaluate theclinical and molecular genetic analysis results of the cases followed up with a prediagnosisof monogenic obesity in our clinic.Materials and Methods: The demographic, clinical and biochemical data of thepatients had molecular genetic analysis with a pre-diagnosis of monogenic obesityin our clinic between 2016 and 2018 were retrospectively analyzed and recorded.Results: 47 obese cases (20 girls, 39 pubertal, mean age 14.3±3.2 years) wereincluded in the study. Pathogenic variant in MC4R was detected in three cases,and heterozygous variant in LEPR, was not accepted as a pathogen variant in thedatabase in one case. The frequency of sequence variants in the MC4R gene was6.4%, and the frequency of the sequence variants in the LEPR gene was 2.1%.Conclusions: In our study, 8.5% (n=4) sequence variant was found in childrenwho were examined with suspicion of monogenic obesity. In these cases, obesitydeveloped in the first year of life and at least one parent had obesity. Therefore, ifearly-onset obesity is accompanied by a family history of obesity, MC4R defect,one of the monogenic obesity forms, should be considered in differential diagnosis.

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out of them were novel variants (25.9%). Patients who complied with NIH criteria had most frequently frameshift variants (11/32 patients), and those with only CALMs had missense variants (9/28 patients). Neurofibromatosis type 1 bright objects (NBOs) on T2-weighted MRI were detected in 42 patients (42/56; 75%). These brain lesions were detected mostly in basal ganglia and in cerebellar vermis. NBOs were detected more in the patients who complied with NIH criteria (80.6%) compared to those who were only CALMs (68%). While frameshift variants (33.3%) were the most common type variants in the patients who had NBOs, the most common variants were splicing (35.7%) and missense (35.7%) variants in the patients whose MRIs were normal. Frameshift variants (11/28 patients; 39.3%) were the most common in the patients with more than one brain locus involvement. Therefore, we consider that frameshift variants may be associated with increased incidence of NBOs and involvement of more than one brain locus. In addition, NBOs may occur less frequently in the patients with splicing variants. To our knowledge, this is the first study evaluated the relationship between NF1 gene variants and NBOs. Future studies may help us understand the etiology of NBOs.

Objective: The aim of this study was to compare the effects of Kinesio Taping and compression stockings on pain, edema, functional capacity and quality of life in patients with chronic venous disease (CVD). Design: This is a prospective, randomized, controlled, single-blind clinical trial. Setting: The study was conducted in a physiotherapy and rehabilitation unit of a university hospital. Subjects: A total of 62 patients with early-stage CVD were allocated to either an experimental group or a control group. Interventions: Experimental group ( n = 29) received Kinesio Taping intervention once a week for four weeks, while control group ( n = 29) received compression stockings for four weeks. All patients additionally undertook an exercise training programme including calf muscle pump exercises, flexibility exercises and diaphragmatic breathing. Main measures: Visual analogue scale, lower limb circumference measurements, 6-minute walk test and Short Form 36 questionnaire were applied before and after four weeks of treatment. Results: Control group showed statistically significant improvements in pain ( P 0.05). Both groups significantly improved 6-minute walk distance ( P Conclusion: This study demonstrated that Kinesio Taping and compression stockings revealed similar improvements of functional capacity and quality of life in patients with CVD. The symptoms of pain and edema caused by CVD can be decreased more efficiently with compression stockings than Kinesio Taping intervention.

Introduction Obstructive sleep apnea (OSA) and endothelial dysfunction are associated with cardiovascular risk factors and the development of atherosclerosis. Endocan is a marker of endothelial dysfunction, while obstructive sleep apnea is one of the causes of endothelial dysfunction. In this study, we investigated the relationship between endocan and obstructive sleep apnea severity. Material and methods A total of 179 patients with snoring complaints were included. All patients underwent polysomnography, and based on the results, the participations were allocated to the control group (n = 39) or to the obstructive sleep apnea group (n = 140). The OSA group was classified as having mild (apnea-hypopnea index (AHI) = 5–15; n = 43), moderate (AHI = 15–30; n = 42), or severe OSA (AHI > 30; n = 55). All participations had their endocan levels measured. Results Endocan levels in OSA patients were significantly higher than in the control group (11.8 (3.13–200) vs 3.13 (3.13–23) ng/ml, p < 0.001). Also, endocan levels were significantly higher in the severe OSA group than moderate and mild obstructive OSA (13.2 (3.13–200), 12.6 (3.13–200) and 8.44 (3.13–50.5) ng/ml, p = 0.015, respectively). Multiple logistic regression analysis showed that smoking, age and endocan levels were independent predictors of OSA severity (p = 0.024, p = 0.037, p = 0.004, respectively). Conclusions Endocan seems to be a potential risk stratification marker in this patient population.

Background Patients on kidney replacement therapy (KRT) are at very high risk of coronavirus disease 2019 (COVID-19). The triage pathway for KRT patients presenting to hospitals with varying severity of COVID-19 illness remains ill-defined. We studied the clinical characteristics of patients at initial and subsequent hospital presentations and the impact on patient outcomes. Methods The European Renal Association COVID-19 Database (ERACODA) was analysed for clinical and laboratory features of 1423 KRT patients with COVID-19 either hospitalized or non-hospitalized at initial triage and those re-presenting a second time. Predictors of outcomes (hospitalization, 28-day mortality) were then determined for all those not hospitalized at initial triage. Results Among 1423 KRT patients with COVID-19 [haemodialysis (HD), n = 1017; transplant, n = 406), 25% (n = 355) were not hospitalized at first presentation due to mild illness (30% HD, 13% transplant). Of the non-hospitalized patients, only 10% (n = 36) re-presented a second time, with a 5-day median interval between the two presentations (interquartile range 2–7 days). Patients who re-presented had worsening respiratory symptoms, a decrease in oxygen saturation (97% versus 90%) and an increase in C-reactive protein (26 versus 73 mg/L) and were older (72 vs 63 years) compared with those who did not return a second time. The 28-day mortality between early admission (at first presentation) and deferred admission (at second presentation) was not significantly different (29% versus 25%; P = 0.6). Older age, prior smoking history, higher clinical frailty score and self-reported shortness of breath at first presentation were identified as risk predictors of mortality when re-presenting after discharge at initial triage. Conclusions This study provides evidence that KRT patients with COVID-19 and mild illness can be managed effectively with supported outpatient care and with vigilance of respiratory symptoms, especially in those with risk factors for poor outcomes. Our findings support a risk-stratified clinical approach to admissions and discharges of KRT patients presenting with COVID-19 to aid clinical triage and optimize resource utilization during the ongoing pandemic.

We hereby present a case report of an extremely preterm newborn with bronchopulmonary dysplasia (BPD), spending more than 4 months of his early life in the newborn intensive care unit (NICU). The uniqueness of this case report is the difference in the algorithm used for the treatment of BPD with regards to the family’s preference and its successful outcome.

Background: There are limited data on long-term outcome and mortality predictors of COVID-19 from different parts of the world. The aim of this study was to determine risk factors of 90-day mortality in critically-ill patients infected with SARS-CoV-2 in Turkish ICUs. Methods: This multicenter, retrospective study was performed in 26 ICUs in Turkey. All patients with confirmed SARS-CoV2 infection, requiring more than 24 hours of ICU follow-up were included in the study. Demographics, clinical characteristics, laboratory variables, respiratory support, treatment types, and survival data were recorded. Results: A total of 421 patients were included in the study. The median age was 67 (IQR: 57-76) years, and 251 patients (59.6%) were men. 90-day mortality rate was 55.1%. Factors independently associated with 90-day mortality were receiving invasive mechanical ventilation (HR 4.09 [95% CI: 2.20-7.63]), admission lactate level > 2 mmol/L (2.78 [1.93-4.01]), age ≥ 60 years (2.45 [1.48-4.06)]), having cardiac arrhythmia during ICU stay (2.01 [1.27-3.20]), receiving vasopressor treatment (1.94 [1.32-2.84]), positive fluid balance of ≥ 600 ml/per day during ICU follow-up (1.68 [1.21-2.34]), admission PaO2/FiO2 ratio of ≤ 150 mmHg (1.66 [1.18-2.32], and baseline ECOG score ≥ 1 (1.42 [1.00-2.02]. Conclusion: This study has shown that long-term mortality was high in critically-ill COVID-19 patients in Turkish ICUs. Invasive mechanical ventilation, high lactate level, older age, presence of cardiac arrhythmia, need for vasopressor treatment, positive fluid balance, severe hypoxemia and not having fully-active performance were related with mortality.

Nocturnal hypoxia and daytime sleepiness resulting from fragmented sleep may impair the ability of postural stability in subjects with OSA. This study investigates the effect of disease severity on postural stability and whether or not it poses a fall risk in individuals with obstructive sleep apnea (OSA). Forty-nine patients with OSA diagnosed by all-night polysomnography (apnea-hypopnea index (AHI) ≥ 5) and aged 51.4 ± 7.2 years were included in the study. The patients were divided into two groups as severe OSA (AHI ≥ 30, n = 24) and non-severe OSA (5 ≤ AHI ≤ 30, n = 25). All patients were subjected to testing for postural stability (PS), limits of stability (LOST), and the stability index for fall risk (fall risk SI) with the Biodex Balance System®. Daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS). Biodex measurements and daytime sleepiness were compared between severe and non-severe OSA groups. Univariate analysis was conducted to explore if AHI, ESS score, lowest SaO2 (%), sleep stages (%), or total arousal index predict postural stability scores. Overall and anterior-posterior PS indices were higher in the severe OSA group (p < 0.05). Dynamic PS and fall risk indices did not differ between groups. AHI and lowest SaO2 (%) were found to be an independent predictor for both overall PS (r = 0.300 and r = 0.286, respectively) and fall risk SI (r = 0.296 and r = 0.374, respectively), whereas stage N1 (%) and stage N3 (%) were an independent predictor for overall LOST score (r = -0.328 and r = 0.298, respectively) (p < 0.05). Static postural stability of individuals with severe OSA is worse than those with non-severe OSA. Static postural stability worsens, and fall risk increases as AHI increases and the lowest SaO2 decreases in individuals with OSA. On the other hand, dynamic postural stability worsens as stage N1 (%) sleep increases and stage N3 (%) sleep decreases. While nocturnal hypoxia indicators such as AHI and lowest SaO2 are associated with static postural stability, sleep structure-related variables are associated with dynamic stability. Including postural stability assessments in the clinical practice for OSA may help addressing workplace accidents or tendency to fall. www.ClinicalTrials.gov registration number: NCT03589417.

Background: There are limited data on the long-term outcomes of COVID-19 from different parts of the world. Aims: To determine risk factors of 90-day mortality in critically ill patients in Turkish intensive care units (ICUs), with respiratory failure. Study design: Retrospective, observational cohort. Methods: Patients with laboratory-confirmed COVID-19 and who had been followed up in the ICUs with respiratory failure for more than 24 hours were included in the study. Their demographics, clinical characteristics, laboratory variables, treatment protocols, and survival data were recorded. Results: A total of 421 patients were included. The median age was 67 (IQR: 57-76) years, and 251 patients (59.6%) were men. The 90-day mortality rate was 55.1%. The factors independently associated with 90-day mortality were invasive mechanical ventilation (IMV) (HR 4.09 [95% CI: [2.20-7.63], P2 mmol/L (2.78 [1.93-4.01], P= 60 years (2.45 [1.48-4.06)], P= 600 mL/day (1.68 [1.21-2.34], P=.002), PaO2/FiO(2) ratio of = 1 (1.42 [1.00-2.02], P=.050). Conclusion: Long-term mortality was high in critically ill patients with COVID-19 hospitalized in intensive care units in Turkey. Invasive mechanical ventilation, lactate level, age, cardiac arrhythmia, vasopressor therapy, positive fluid balance, severe hypoxemia and ECOG score were the independent risk factors for 90-day mortality. WOS:000700853600007 2-s2.0-85115428262 PubMed: 34558415

IntroductionCardiovascular disease is the leading cause of death in end-stage renal disease (ESRD) and is strongly associated with vascular calcification. An important driver of vascular calcification is high phosphate levels, but these become lower when patients initiate nocturnal hemodialysis or receive a kidney transplant. However, it is unknown whether nocturnal hemodialysis or kidney transplantation mitigate vascular calcification. Therefore, we compared progression of coronary artery calcification (CAC) between patients treated with conventional hemodialysis, nocturnal hemodialysis, and kidney transplant recipients.MethodsWe measured CAC annually up to 3 years in 114 patients with ESRD that were transplantation candidates: 32 that continued conventional hemodialysis, 34 that initiated nocturnal hemodialysis (≥4x 8 hours/week), and 48 that received a kidney transplant. We compared CAC progression between groups as the difference in square root transformed volume scores per year (ΔCAC SQRV) using linear mixed models. Reference category was conventional hemodialysis.ResultsThe mean age of the study population was 53 ±13 years, 75 (66%) were male, and median dialysis duration was 28 (IQR 12–56) months. Median CAC score at enrollment was 171 (IQR 10–647), which did not differ significantly between treatment groups (P = 0.83). Compared to conventional hemodialysis, CAC progression was non-significantly different in nocturnal hemodialysis -0.10 (95% CI -0.77 to 0.57) and kidney transplantation -0.33 (95% CI -0.96 to 0.29) in adjusted models.ConclusionsNocturnal hemodialysis and kidney transplantation are not associated with significantly less CAC progression compared to conventional hemodialysis during up to 3 years follow-up. Further studies are needed to confirm these findings, to determine which type of calcification is measured with CAC in end-stage renal disease, and whether that reflects cardiovascular risk.

Objective Nasal airway obstruction in children is a frequent problem in otolaryngology practice. Adenoidal hypertrophy (AH) is the most common pathology in childhood that requires surgery. Nasal patency can be evaluated by subjective and objective methods. Unlike other methods, peak nasal inspiratory flow (PNIF) is portable and easy to perform. The need for patient compliance is the most important disadvantage of this method. We aimed to analyze the significance of PNIF for measuring the effectiveness of adenoidectomy as well as to compare PNIF with other subjective methods. Methods Two-hundred forty-five (245) patients aged between six and 11 years were evaluated. Seventy-seven (77) of them formed the study group and 168 formed the control group. Pre and post-surgery PNIF measurements, adenoid scores, and simple visual analog scale (sVAS) were recorded. Results The average PNIF value has significantly increased to 70.65 L/min from 33.02 L/min after adenoidectomy (p

Background and Objectives: This study aimed to evaluate the relationship between mortality and cardiac laboratory findings in patients who were hospitalized after a positive PCR for COVID-19 infection. Materials and Methods: This study included patients who were admitted to or referred to the hospital between 20 March and 20 June 2020, diagnosed with COVID-19 via a positive RT-PCR from nasal and pharyngeal swab samples. The troponin I level was measured from each patient. Medical records of patients were retrospectively reviewed and analyzed. Results: A hundred and five patients who were diagnosed with COVID-19 and hospitalized, or who died in the hospital due to COVID-19, were included in this study. There was a statistically significant difference between the troponin I high and low level groups in terms of age (years), BMI, shortness of breath (SB), oxygen saturation (%), hypertension, length of stay in the ICU, and for mortality, C-reactive protein, the neutrophil-to-lymphocyte ratio, hemoglobin, lactate dehydrogenase, ferritin, D-dimer, creatine kinase-MB, prothrombin time, calcium, and 25-hydroxy vitamin 25(OH)D3 (all p &lt, 0.05). In the logistic analyses, a significant association was noted between troponin I and the adjusted risk of mortality. A ROC curve analysis identified troponin I values &gt, 7.8 pg/mL as an effective cut-off point in mortality for patients with COVID-19. A troponin I value of higher than 7.8 pg/mL yielded a sensitivity of 78% and a specificity of 86%. Conclusions: The hospital mortality rate was higher among patients diagnosed with COVID-19 accompanied by troponin levels higher than 7.8 pg/mL. Therefore, in patients diagnosed with COVID-19, elevated troponin I levels &gt, 7.8 pg/mL can be considered an independent risk factor for mortality.

AIMS JAK2V617F (JAK2), calreticulin (CALR) and MPL515L/K (MPL) mutations are important in essential thrombocythemia (ET) and may be associated with various clinical consequences of the disease. This study aimed to compare the clinical and haematological parameters of ET patients regarding the mentioned mutations and the role of plateletcrit (PCT). METHODS Seventy patients who were diagnosed with ET between 2005 and 2017 in a single centre were included in this descriptive study. The initial symptoms and clinical findings were retrieved from the electronic database. JAK2 gene V617F mutations, MPL gene exon 10 mutations and CALR gene exon 9 DNA sequence analyses were performed. Forty-one healthy volunteers were included to perform ROC curve analysis for interpreting PCT value. RESULTS The distributions of patients according to the mutations were as follows: Thirty-seven (52.9%) patients were JAK2-positive, 15 (21.4%) were CALR-positive, 2 (2.8%) patients were positive for both CALR and JAK2, and 1 (1.4%) was only MPL-positive. Fifteen (21.4%) patients were triple-negative. The ET patients with JAK2 mutation showed a higher level of haemoglobin at the time of diagnosis. The ET patients with CALR mutation presented with higher platelet and LDH levels (P = .002 and P = .001, respectively). The PCT level was higher in the CALR-positive group when compared to the others (P = .026). A sensitivity value of 97.6% and specificity value of 98.6% were determined regarding PCT% at a cut-off value of 0.37 in ET patients. In CALR-positive patients, the sensitivity and specificity values were 100% for the PCT at a cut-off value of 0.42%. CONCLUSION We determined that the platelet count and blood LDH level was high in the ET patient group with CALR mutation. Besides, we found that the blood haemoglobin level was higher in the ET patient group with JAK2 mutation. Additionally, the PCT level was higher in the CALR group when compared to the other patient groups.

Colorectal cancers are a group of diseases caused by genetic predisposition, nutritional habits, lifestyle, and environmental factors. Colorectal cancers may occur due to changes in a number of well-defined colorectal cancer-related genes so far, as well as inherited factors that create familial risk. Of these genetic factors, the ones which are well-defined, highly penetrant, and associated with specific clinical syndromes cause hereditary colorectal cancers. Approximately 5–10% of all colorectal cancers are hereditary. Hereditary colorectal cancers are classified into two main groups as “hereditary non-polyposis colorectal cancer” and “hereditary colorectal cancers with polyposis” according to histopathological evaluation. While hereditary non-polyposis colorectal cancers are mainly associated with mismatch repair genes causing microsatellite instability, hereditary colorectal cancers with polyposis are associated with the APC gene. In the diagnosis of these disorders, the use of “next-generation sequence analysis” of multigene panels improved the diagnosis rates with better cost and time effectiveness. Determining the gene in which the germline mutation is involved is critical since it will guide the genetic counseling and prophylactic follow-up approaches.

Introduction: Previous studies have demonstrated the predictive value of the neutrophil-to-lymphocyte ratio (NLR) in many cardiovascular disorders. The aim of this study was to assess whether NLR is associated with echocardiographic or electrocardiographic parameters, or with predicted five-year risk of sudden cardiac death (SCD), in patients with hypertrophic cardiomyopathy (HCM). Methods: This prospective observational study included 74 controls and 97 HCM patients. Three years of follow-up results for HCM patients were evaluated. Results: NLR was significantly higher in patients with fragmented QRS, ventricular tachycardia, and presyncope than in those without (p=0.031, 0.030, and 0.020, respectively). NLR was significantly higher in patients whose predicted five-year risk of SCD was more than 6% and whose corrected QT interval was greater than 440 ms (p=0.022 and 0.001, respectively). It was also significantly higher in patients whose left ventricular ejection fraction (LVEF) was 60% (p=0.017). Conclusion: NLR was significantly higher in patients with HCM compared to the control group. A high NLR is associated with a higher five-year risk of SCD in patients with HCM. Resumo: Introdução: Estudos prévios demonstraram o valor preditivo da relação neutrófilos/linfócitos (RNL) em muitas alterações cardiovasculares. O objetivo deste estudo foi avaliar se a RNL está associada a parâmetros ecocardiográficos ou eletrocardiográficos, ou com o score de risco de morte súbita cardíaca (MSC) a cinco anos em doentes com miocardiopatia hipertrófica (MCH). Métodos: Este estudo prospetivo observacional incluiu 74 controlos e 97 doentes com MCH. Foram avaliados os resultados dos doentes com MCH ao longo de três anos de seguimento. Resultados: O valor da RNL foi significativamente superior nos doentes com QRS fragmentado, com taquicardia ventricular e com pré-síncope do que nos que não revelaram esses sinais (valores p: 0,031, 0,030, 0,020, respetivamente). O valor RNL foi estatística e significativamente superior nos doentes com risco de MSC previsível a cinco anos superior a 6%, e com um intervalo QT corrigido superior a 440 ms (valores p: 0,022, 0,001, respetivamente). O valor da RNL foi significativamente superior nos doentes com fração de ejeção (FE) 60% (valor p = 0,017). Conclusão: A RNL foi significativamente superior nos doentes com MCH quando comparada com o grupo controlo. Uma RNL alta está associada a um score de risco de MSC elevado aos cinco anos em doentes com MCH. Keywords: Hypertrophic cardiomyopathy, Neutrophil-to-lymphocyte ratio, Five-year risk of sudden cardiac death, Palavras-chave: Miocardiopatia hipertrófica, Relação neutrófilos/linfócitos, Score de risco a cinco anos de morte súbita cardíaca

Nutritional risk assessment is often difficult in intensive care unit (ICU) patients. NUTRIC (NUTrition RIsk in Critically ill) and modified (m) NUTRIC scores (without IL-6), are ICU-specific nutritional risk assessment tools. The aim of this study was to evaluate whether mNUTRIC score is related with ICU prognosis in respiratory ICU patients. Methods: Prospective observational study was performed in a respiratory ICU in a university hospital. All adult patients admitted between October 2018- October 2019 were recruited. mNUTRIC score was calculated within 24 h of admission. Results: 101 patients (34.7% female, mean age 66 ±12 (23-90 years), mean body mass index 25± 6 kg/m2 (12-50) were enrolled. Main diagnoses were COPD acute exacerbation in 27.2 %, pneumonia in 24.3 % and interstitial lung disease in 15.5 %. Mean mNUTRIC score was 4±1.8 (0-10). High nutritional risk which was defined as m NUTRIC≥5 was observed in 39.6 % of the study group. When the two groups compared, patients with high nutrional risk (n=40) had longer mean mechanical ventilation (1.8±3.4 vs. 5.8±7 days), ICU (6.2±5 vs. 9.4±7.8 days) and hospital length of stay (15.1±8.8 vs. 21.8±13.4 days) than the patients with low nutrional risk (p Conclusion: Nearly 40 % of respiratory ICU patients are at high nutrional risk which was associated with increased morbidity and mortality.

Introduction: The aim of this study was to investigate the effects of the core stabilization exercises on pulmonary function, respiratory muscle strength and peripheral muscle strength in children with adolescent idiopathic scoliosis (AIS). Methods: Thirty patients were included in the study. The patients were randomly allocated to either the training (TG) or the control (CG) group. Spirometry, respiratory muscle strength, peripheral muscle strength and 6-min walk test (6MWT) was assessed at baseline and after 8 weeks of training. CG only received the traditional scoliosis exercises. CG was performed once a week under the supervision of a physiotherapist, other days of the week the patients continued their exercises as home exercises program for 8 weeks. TG received core stabilization exercises in addition to the traditional scoliosis exercises every day of the week for 8 weeks. TG was performed once a week under the supervision of a physiotherapist, other days of the week the patients continued their exercises as home exercises program. Both groups did exercises 1 set of 10 repetitions and once a day. Result: There were significant improvements in %FVC, %FEV1, MIP, MEP, 6MWT and peripheral muscle strength (p Conclusion: Core stabilization exercises further improve MIP and MEP value compared to the traditional scoliosis exercises in children with AIS.

Objective: The aim of this study was to investigate the effects of home-based pulmonary rehabilitation on control of asthma, spirometric parameters, functional capacity and lower limb muscle strength in patients with asthma. Methods: Thirty patients were randomized to training (TG) or control (CG) groups. All patients were evaluated with the asthma control test, spirometry, six-minute walk test (6MWT) and 30 seconds chair stand test (30CST). TG received home-based pulmonary rehabilitation consisting of stretching exercises, strengthening exercises for upper and lower extremities, breathing exercises and regular physical activity as walking for 8 weeks, with a minimum of 3 days per week. One of these sessions was supervised every week by the same physiotherapist. All these exercises were practiced with equipment that patients can easily provide at home and the intensity of the exercises gradually increased. CG only received a booklet about breathing exercises and physical activity in addition to one educational session. Also, a pedometer and exercise diary were given to all patients. Results: There were significant improvements in asthma control test, PEF, 6MWT and 30CST (p Conclusion: Home-based pulmonary rehabilitation programs can be given to increase functional capacity and respiratory parameters in asthmatic adults who cannot be supervised for various reasons.

Background: The oral food challenge (OFC) in IgE mediated food allergy causes anxiety both in parents and in patients due to its inherent risks.Objective: Documentation of the rate, spectrum, and predictors of positive reactions is instructive.Methods: Children, who underwent OFC between January 1, 2017 and December 31, 2019 were analyzed.Results: A total of 1361 OFCs in 613 cases were reviewed. Most of them were performed in preschool children (≤2 years 50%) and 55% of them had more than one OFC. Mainly consid-ered food groups were cow’s milk (31.8%), hen’s egg (28.5%), tree nuts (20%), legumes (7%), seeds (4.9%), and wheat (2.7%). The overall OFC positivity was 9.6%, whereas 6.7% with cow’s milk, 4.9% with hen’s egg, 16.1% with tree nuts, 21.6% with wheat, and 32.8% with seeds. The severity scoring revealed grade I (24.4%), II (45.8%), and III (29.7%) reactions. Fifty (38%) cases required epinephrine and four cases required hospitalization. OFCs with sesame seeds (odds ratio [OR]: 7.747, [confidence interval (CI) 95%: 4.03–14.90]), wheat (OR: 3.80, [CI: 1.64–8.84]), and tree nuts (OR: 2.78, [CI: 1.83–4.23]) predicted a positive OFC while a concomitant asthma (OR: 3.61 [CI: 1.27–10.28]) was more likely to elicit anaphylaxis.Conclusion: In OFC practice, priority is given to basic nutritional sources and the most frequent food allergens, where preschool children with multiple sensitizations are the primary subjects. Increased risks of positive reactions with sesame, tree nut, and wheat and increased risk of anaphylaxis with concomitant asthma should be considered while performing OFC.

INTRODUCTION Brain metastasis prevalence is higher in patients with positive epidermal growth factor receptor (EGFR) mutation, anaplastic lymphoma kinase (ALK) and C-ROS oncogene 1 (ROS-1) fusion change in lung adenocarcinoma. OBJECTIVES The purpose of our study is to investigate the relation between the genetic change type and the initial distant metastasis in stage IV lung adenocarcinoma patients with genetic changes. METHODS The study was conducted between January 2007 and December 2018 in a retrospective fashion with patients who had lung cancer diagnosed as stage IV adenocarcinoma. The relation between genetic mutation change (EGFR, ALK or ROS-1) and distant metastasis was analysed. RESULTS A total of 845 patients were included in the study. The median age was 62 (28-88). It was determined that lung and pleura metastases were more frequent at a significant level in patients with positive EGFR mutation (P = 0.032, P = 0.004, respectively). In patients with positive ALK fusion change, pleura metastasis was determined to be more frequent (P = 0.001). Multiple metastases were determined to be significantly more in patients with positive ALK fusion change than single metastasis (P = 0.02). CONCLUSION In patients with EGFR mutant lung adenocarcinoma, lung and pleura metastasis is more frequent and pleura metastasis is more frequent in ALK positive adenocarcinoma. Additionally, multiple organ metastases are higher in ALK positive lung adenocarcinoma.

This paper reports three critically ill patients diagnosed COVID-19 infection who were treated with conventional therapy and MSCs add-on therapy in combined treatment protocols on a patient centric manner. We followed up and evaluated the cases specifically for efficacy and safety indicators. We introduce promising efficacy and safety data of the add on MSC therapy in COVID-19. We believe that the MSC therapy could be a safe effective therapy method for novel coronavirus as add-on therapy and when applied to the critically ill COVID-19 cases on a personalized approach.

Dear Editor, Neuromuscular disorders still keep their mystery 1. Considering that cases with very mild symptoms cannot be diagnosed at all, it is almost impossible to know the true prevalence of these diseases 2. Relatively little information about the exact prevalence of neuromuscular disorders (NMDs) has been published 1-4. It has been reported that NMDs affect approximately one in 3500 children worldwide and X-linked dystrophinopathies have the highest incidence among them 4. Knowledge of NMDs has expanded dramatically during the last four decades thanks to advances in modern pathological techniques and genetic tests. Currently, the dystrophinopathies and most cases of limb-girdle dystrophies (LGMDs) can be diagnosed with immunohistochemical analysis of muscle tissues 4-7. It must be kept in mind that diagnoses may be suggested by the histopathological evaluation, but definitive diagnosis mostly relies on genetic analyses 5-7. It can be thought that the evaluation by molecular techniques of comprehensive panels, each aimed at identifying genetic changes in a separate disease group, reduces the importance of pathological examination of muscle tissue 6. However, the evaluation of muscle biopsy specimens is an irreplaceable approach in some cases. For example, dystrophinopathy, the most common muscular disease, has two clinically and significantly different entities: Duchenne (DMD) and Becker muscular dystrophy (BMD). Among these two diseases that start in childhood, patients with DMD die in the second decade of their lives, and patients with BMD can reach their 50s thanks to close surveillance. Interestingly, genetic changes are similar in both diseases and cannot be distinguished by genetic analyses 4. The only way to differentiate the two diseases is to show the complete loss of dystrophin as in DMD or the presence of partially functional dystrophin protein as in BMD. Therefore, demonstration of sarcolemmal dystrophin in muscle biopsy tissue specimens has vital diagnostic importance 5. Similarly, the immunohistochemical examination of muscle biopsy specimens with commercially available primary antibodies is helpful in the diagnosis of many muscular dystrophies. In addition, staining of muscle biopsy specimens with combined succinate dehydrogenasecytochrome oxidase (SDH-COX) enzyme stain is the most reliable way to diagnose mitochondrial myopathy in mitochondrial diseases with muscle involvement. Oil red O and PAS stains are also helpful for differential diagnosis of muscle involvement in metabolic diseases. In this way, unnecessary treatments can be avoided in many myopathies considered in the differential diagnosis 5-7. Histopathologic evaluation of muscle biopsy specimens is an important step in the diagnosis of a neuromuscular disease. An experienced pathologist can provide very useful clues to the clinician for differential diagnosis. Presence of inflammatory cells or regenerated fibers, group atrophy, ragged red fiber, core or targets, increase in the number of central nuclei, accumulation of glycogen or lipid and fibrosis-like pathologies can be determined in neuromuscular disease. These findings discriminate against the disease group and determine the most useful genetic analysis that may be preferred for further examination. Especially in children older than 6-8 weeks, the presence of muscle fibers showing neonatal myosin expression in immunohistochemical analysis provides further evidence for a muscle disease 5-7. Single muscle biopsy is almost always sufficient. For additional diagnostic approaches, the biopsy material stored at -80 oC should be re-evaluated by an experienced muscle pathologist with new dyes that have not been applied before. Repeat biopsy examination may be required only in newborn infants. In many muscle diseases, including DMD, recurrent biopsies only show a progression to an end-stage muscle disease and eventually the muscle tissue is replaced by fibroadipose tissue. There are few muscle diseases in which histopathologic examination of repeat biopsy specimens has diagnostic value. For example, in centronuclear myopathy, the nuclei in the muscle fibers are located peripherally at birth but migrate to the center in the following years, which is considered as a kind of dedifferentiation. Diagnosis cannot be made based on the histopathologic examination of the first biopsy specimens obtained in early childhood, and the diagnosis is usually established based on the examination of biopsy specimens harvested around the age of 4 1-3. A muscle biopsy specimen of a 10-month-old boy was evaluated histopathologically nearly five years ago. He was a hypotonic infant and had respiratory distress. There was no consanguinity between his parents. In the histopathologic examination of the first biopsy material, the presence of an increased number of central nuclei and myofibers of various sizes were detected. The patient was evaluated as a case of congenital myopathy such as centronuclear myopathy, myofiber-type disproportion and so on. In the first biopsy, there were mild differences in the size and shape of fibers. Numerous internal nuclei were not observed (Figure 1A-C). A repeat biopsy was suggested at a later date. Two years later, a new biopsy material was available. Interestingly, in the histopathologic examination of the second biopsy specimens, greater differences were seen in the sizes of fibers. Small fibers were of type1 and all fibers always had internal nuclei. Muscle injury had deteriorated to muscular dystrophy (Figure 2A-C). As the centronuclear myopathy must not have dystrophic features, and exaggerated differences in fiber sizes as seen in this case, the slides were consulted with an expert muscle pathologist, Professor Caroline Sewry, Ph.D., FRCPath, about the biopsy results who suggested a genetic evaluation. She wrote that central nuclei and small slow fibers seemed to be the main features, so a panel of congenital myopathy including MTM1, Titin (TTN), and RYR1 genes must be evaluated. Nearly a year later, we genetically evaluated these three genes and determined a homozygous MTM1 gene mutation (c.731C>T p.R241C). This variant was previously reported as pathogenic. Finally, the patient was diagnosed as a case of centronuclear myopathy caused by the mutation of the MTM1 gene on Xq28 6. In conclusion, unlike many other diseases, the histopathologic examination does not form the basis of the diagnosis of neuromuscular diseases. As in many parts of the world, a limited number of centers and a scarce number of trained pathologists are performing special muscle and nerve biopsy examinations in our country. Nevertheless, as observed in the present case, histopathologic examination, and more importantly, repeat biopsy is invaluable in the differential diagnosis. For this reason, it is very important to be able to perform the histopathologic examination of muscle and nerve biopsy specimens at least in some large centers and to provide the relevant training to the pathologists interested in this subject.

OBJECTIVE

Background: Vascular calcification is seen in most patients on dialysis and is strongly associated with cardiovascular mortality. Vascular calcification is promoted by phosphate, which generally reaches higher levels in hemodialysis than in peritoneal dialysis. However, whether vascular calcification develops less in peritoneal dialysis than in hemodialysis is currently unknown. Therefore, we compared coronary artery calcification (CAC), its progression, and calcification biomarkers between patients on hemodialysis and peritoneal dialysis. Methods: We measured CAC in 134 patients who had been treated exclusively with hemodialysis (n = 94) or peritoneal dialysis (n = 40) and were transplantation candidates. In 57 of them (34 on hemodialysis and 23 on peritoneal dialysis), we also measured CAC progression annually up to 3 years and the inactive species of desphospho-uncarboxylated matrix Gla protein (dp-ucMGP), fetuin-A, osteoprotegerin. We compared CAC cross-sectionally with Tobit regression. CAC progression was compared in 2 ways: with linear mixed models as the difference in square root transformed volume score per year (ΔCAC SQRV) and with Tobit mixed models. We adjusted for potential confounders. Results: In the cross-sectional cohort, CAC volume scores were 92 mm3 in hemodialysis and 492 mm3 in peritoneal dialysis (adjusted difference 436 mm3; 95% CI –47 to 919; p = 0.08). In the longitudinal cohort, peritoneal dialysis was associated with significantly more CAC progression defined as ΔCAC SQRV (adjusted difference 1.20; 95% CI 0.09 to 2.31; p = 0.03), but not with Tobit mixed models (adjusted difference in CAC score increase per year 106 mm3; 95% CI –140 to 352; p = 0.40). Peritoneal dialysis was associated with higher osteoprotegerin (adjusted p = 0.02) but not with dp-ucMGP or fetuin-A. Conclusions: Peritoneal dialysis is not associated with less CAC or CAC progression than hemodialysis, and perhaps with even more progression. This indicates that vascular calcification does not develop less in peritoneal dialysis than in hemodialysis.

Renal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.

WOS: 000450099400016, PubMed: 30382397, BackgroundWe aimed to investigate the effect of systemic isotretinoin therapy on normal and wounded nasal septal mucosa histopathologically in an experimental rabbit model.MethodsCircular mucosal defect with a 7mm diameter was made in the left septum of 12 New Zealand white rabbits. The rabbits were divided into two groups (six rabbits in each group) oral isotretinoin was given with olive oil at the operation day to the first group. The control group was only oil given group. The harvested septum mucosas were divided into four groups (1wounded-drug given side, 2unwounded and drug-given side, 3wounded-control and 4unwounded-control side). The diameter of the defect, mucosal thickness, epithelial thickness, ciliated cell level, goblet cell level and inflammation were evaluated every week for 4weeks.ResultsAt both wounded and normal side, thinning of normal respiratory ciliated epithelium was observed in the postoperative period. In study group at the wounded side; mean mucosal thickness was measured 139.66 mu (26.24), and in the control group, mean mucosal thickness was 238.33 mu (+/- 39.7) at the wounded side. (p

An implantable cardioverter defibrillator (ICD) storm involves very frequent arrhythmia episodes and ICD shocks, and it is associated with poor short-term and long-term prognosis. Radiofrequency catheter ablation can be used as an effective rescue treatment for patients with an ICD storm. To our knowledge, this is the first report of an infant with hypertrophic cardiomyopathy presenting with an ICD storm and undergoing successful radiofrequency catheter ablation salvage treatment for the fast left posterior fascicular ventricular tachycardia.

Background. We investigated whether initial population screening for elevated albuminuria with subsequent screening for hypertension in case albuminuria is elevated may be of help to identify subjects at risk for accelerated decline in kidney function.Methods. We included subjects who participate in the PREVEND observational, general population-based cohort study and had two or more glomerular filtration rate (eGFR) measurements available during follow-up. Elevated albuminuria was defined as an albumin concentration >= 20 mg/L in a first morning urine sample confirmed by an albumin excretion >= 30mg/day in two 24-h urines. Hypertension was defined as systolic blood pressure >= 140mmHg, diastolic blood pressure >= 90mmHg or use of blood pressure-lowering drugs. eGFR was estimated with the CKD-EPI creatinine-cystatin C equation.Results. Overall, 6471 subjects were included with a median of 4 [95% confidence interval (CI) 2-5] eGFR measurements during a follow-up of 11.3 (95% CI 4.0-13.7) years. Decline in eGFR was greater in the subgroups with elevated albuminuria. This held true, not only in subjects with known hypertension (-1.84+/-2.27 versus -1.16+/-1.45mL/min/1.73m(2) per year, P= 55 years of age andmale subjects. In addition, subjects with elevated albuminuria had higher blood pressure than subjects with normoalbuminuria, and in subjects with elevated albuminuria as yet undiagnosed hypertension was twice as prevalent as diagnosed hypertension.Conclusions. Initial screening for elevated albuminuria followed by screening for hypertension may help to detect subjects with increased risk for a steeper decline in kidney function.

Muhammet Hulusi Satilmisoglu,1 Sinem Ozbay Ozyilmaz,1 Mehmet Gul,1 Hayriye Ak Yildirim,2 Osman Kayapinar,3 Kadir Gokturk,4 Huseyin Aksu,1 Korhan Erkanli,5 Abdurrahman Eksik1 1Department of Cardiology, 2Department of Biochemistry, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, 3Department of Cardiology, Duzce University Faculty of Medicine, Duzce, 4Department of Infectious Diseases, 5Department of Thoracic and Cardiovascular Surgery, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey Purpose: To determine the predictive values of D-dimer assay, Global Registry of Acute Coronary Events (GRACE) and Thrombolysis in Myocardial Infarction (TIMI) risk scores for adverse outcome in patients with non-ST-segment elevation myocardial infarction (NSTEMI).Patients and methods: A total of 234 patients (mean age: 57.2±11.7 years, 75.2% were males) hospitalized with NSTEMI were included. Data on D-dimer assay, GRACE and TIMI risk scores were recorded. Logistic regression analysis was conducted to determine the risk factors predicting increased mortality.Results: Median D-dimer levels were 349.5 (48.0–7,210.0) ng/mL, the average TIMI score was 3.2±1.2 and the GRACE score was 90.4±27.6 with high GRACE scores (>118) in 17.5% of patients. The GRACE score was correlated positively with both the D-dimer assay (r=0.215, P=0.01) and TIMI scores (r=0.504, P=0.000). Multivariate logistic regression analysis revealed that higher creatinine levels (odds ratio =18.465, 95% confidence interval: 1.059–322.084, P=0.046) constituted the only significant predictor of increased mortality risk with no predictive values for age, D-dimer assay, ejection fraction, glucose, hemoglobin A1c, sodium, albumin or total cholesterol levels for mortality.Conclusion: Serum creatinine levels constituted the sole independent determinant of mortality risk, with no significant values for D-dimer assay, GRACE or TIMI scores for predicting the risk of mortality in NSTEMI patients. Keywords: acute coronary syndrome, non-ST-segment elevation myocardial infarction, GRACE score, D-dimer assay, TIMI score

The objective of this study was to compare the Atherogenic Index of Plasma (AIP) values as indicators of subclinical atherosclerosis among 124 patients with erectile dysfunction, which was thought to be vasculogenic and 126 control subjects who had no erectile dysfunction, and to compare cardiac performance values between both the groups using exercise stress tests (EST). Erectile function was assessed using the International Index of Erectile Function (IIEF-5) questionnaire form. AIP values were studied and compared between patients with ED (IIEF < 22) and those without ED (IIEF > 22) using the log10 TG/HDL-C formula. In addition, the correlation between the severity of ED and AIP was investigated according to IIEF-5 scoring. Metabolic equivalent (MET) values, maximal heart rates (max HR), and heart rate recovery (HRR) were evaluated with effort tests. AIP values were significantly higher in the ED group than in the control group (0.45 ± 0.27, and 0.37 ± 0.27; p = 0.015). According to IIEF-5 scoring, AIP values increased as ED scores decreased. In the EST, MET score and max HR values were significantly lower in the ED group (METs: 11.1 ± 2.2, and 11.6 ± 2.2; p = 0.045; Max HR: 162.8 ± 6.1, and 165 ± 8.7; p = 0.019). Although not statistically significant, HRR values were lower in the ED group. Higher AIP values were found in the ED group, and a positive correlation was established between AIP and the severity of ED. In addition, lower performance during the EST and lower HRR values, again in the ED group, confirms cardiac interaction with ED. These results indicate the importance of referral of patients with ED from urology clinics to cardiology units for risk determination and cardiac assessment, even if they areasymptomatic.

Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” and in contrast to noninvasive conventional serum screening, it provides the identification of 98%–99% of fetuses with Down syndrome. Methods Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis. Results In total, 4,594 pregnant women were investigated. Initial 3,594 cases are studied by MiSeq platform, the last 1,000 cases by NextSeq. Failure rate for MiSeq platform is 10.9% and for NextSeq is 8.7%. Automatically reported cases constitute 75% of the MiSeq group and 87% of the NextSeq group. Conclusions Targeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.

Background The incidence of postoperative pulmonary complications (POPCs) in restrictive pulmonary disorders remains indefinite especially in adults. Therefore, this study is structured to evaluate the incidence and risk factors of POPCs in restrictive pulmonary disorders. Methods 2177 preoperative consultations have been prospectively evaluated from May 2015 to May 2016 in Cukurova University, Department of Chest Diseases. 60 of them (2.8%) met restrictive pulmonary function tests (PFTs) criteria and all of them were enrolled in the study. Each participant was evaluated at the 7th day and has been followed-up until 30th day after surgery. Clinical, surgical, PFT and arterial blood gas analysis parameters were evaluated to analyse risk factors of POPCs. Results The incidence of early and late POPCs as 10% and 11.7% in restrictive pulmonary disorders. Preoperative PaO2 ≤ 68 mmHg is an independent risk factor of POPCs. Surgery site, duration of surgery, age, previous or current smoking, preoperative PFT results, physical status, cardiopulmonary risk points, abnormal chest radiography were not significantly related with an increased risk in our study. Conclusions The incidence of POPCs in restrictive pulmonary disorders is high. The patients with restrictive pulmonary disorders should be evaluated with particular care perioperatively. Arterial blood gas analysis may give additional knowledge about increased POPCs risk.

PubMedID: 29969202 Background. Recent reports have indicated an improved prognosis in sepsis with beta blocker agents; however, the underlying action mechanism is still under debate. Objectives. The aim of this study was to investigate the potential effect of propranolol on endothelial dysfunction in septic rats. Material and methods. The cecal ligation and puncture model (CLP) was used to generate sepsis. Adult male Wistar-Albino rats were divided into 4 groups: group 1 was a sham group, group 2 received sterile saline, group 3 received 10 mg/kg of propranolol 3 days before the intervention, and group 4 received 10 mg/kg of propranolol 30 min after CLP. Six rats from each group were sacrificed 24 h postoperatively. The remaining rats were followed for survival. We have also evaluated the effects on systemic inflammation, coagulation and the lung tissue with immunohistochemical and electron microscopic evaluation. Results. Serum tumor necrosis factor alpha (TNF-?) and plasminogen activator inhibitor-1 (PAI-1) levels, as well as tissue TNF-? scores were elevated in septic rats. Electron microscopic examination of the lung tissue showed endothelial dysfunction in the sepsis group. Pretreatment significantly improved survival. Moreover, pre-treatment altered serum vascular endothelial growth factor receptor-1 (VEGFR-1) levels and post-treatment reduced serum PAI-1 and VEGFR-1 levels. In both the pre- and post-treatment groups, electron microscopic examination revealed improvement of the destroyed lung endothelium and showed only mild alterations in the cytoplasmic organelles, especially in the mitochondria of the endothelial cells. Conclusions. These results suggest that the improved outcome with beta blockers in sepsis may be due to the ameliorated endothelial dysfunction. Further studies focusing on the potential effect of beta blockers on the endothelium may lead to a better understanding of sepsis. © 2019 by Wroclaw Medical University.

Substance use, including cannabis, has been documented among women during pregnancy, particularly during the 1st trimester. Recreational drugs well known to induce Myocardial Infarction (MI) include cannabis, cocaine, amphetamines and ecstasy even in new born. Their effects on the cardiovascular system are predominantly related to stimulation of the sympathetic nervous system; thus they are known to cause MI secondary to coronary vasospasm. Here we showed that transient coronary vasospasm in a new born due to maternal cannabis use during pregnancy. Smoking cannabis is known to be a rare cause of MI. Cannabis use during pregnancy can induce transient coronary vasospasm and ischemia in new born. These patients should be followed closely in intensive care unit. If necessary a coronary angiography should design to evaluate coronary arteries.

The case, detected during routine thalassemia (hemoglobin variant) screening, was a 25-year-old male patient of Turkish origin. Physical examination revealed no abnormal findings. Laboratory findings did not reveal any signs of anemia (iron deficiency, B12 deficiency, etc.). However, when the hemoglobin variant report was being evaluated, it was found that besides the normal hemoglobin peaks, there was another peak that had not been defined before. The sample was sent to genetic analysis for verification with the suspicion of an unknown hemoglobin variant. According to the genetic analysis, the unknown hemoglobin variant was found to be Hemoglobin Pusan (Hb Pusan). The aim of this study is to give information about a hemoglobin variant which is rarely seen in Turkish population and to raise awareness about this hemoglobin variant. In addition, clinical and hematological findings of this disease are discussed in the case report.

The use of contraband cigarettes is a serious public health problem. We present a case of atrial fibrillation in a healthy adolescent suspected to be caused by smoking contraband cigarettes. A 15-year-old man was admitted to our emergency department experiencing syncope and palpitations. He was a cigarette smoker, but he had never smoked any illicit tobacco products before. He had finished a pack of counterfeit cigarettes (20 pieces) in 1.5 h. His electrocardiogram showed atrial fibrillation with a rapid ventricular response and irregular RR intervals. The patient had no history of alcohol use, surgery, palpitations, hypertension, chronic bronchitis, or any infectious diseases. His atrial fibrillation was converted to a normal sinus rhythm after the cardioversion treatment. Our patient was discharged from the pediatric cardiology service and advised to quit smoking cigarettes, strictly warning against illicit tobacco products. In conclusion, intensive smoking of counterfeit cigarettes may lead to occurrences of atrial fibrillation.

Objective We evaluated autonomic behavior by examining heart rate variability (HRV) in the time domain and frequency domain in pediatric patients who underwent transcatheter closure of atrial septal defect (ASD). Methods A prospective study design was used. Holter ECG was performed in a control group of 30 healthy subjects and a group of 47 patients who underwent transcatheter ASD closure. ECG was taken one day before, one day after, and six months after the procedure to evaluate changes in the time domain [SDNN, rMSSD, NN, pNN50(%), and SDANN] and frequency domain (VLF, LF, HF, VHF, and LF/HF) in the patient group. Student's t-test was used to evaluate changes prior to and after the procedure. Results There were 28 females (60%) in the patient group and 21 females (70%) in the control group. The mean age and weight of the participants in the patient group were 9.61±4.72 years and 32.40±19.60 kg, respectively; the mean age and weight of the control subjects were 10.43±5.31 years and 32.83±13.00 kg, respectively. In both the time domain and frequency domain analyses, the patient group values were found to be lower than those in the control group prior to the procedure; the values in the patient group were found to approach the values in the control group following the procedure. By the sixth month, the values in the patient group reached the control levels with no statistically significant difference (SDNN: 145±0.84, 137.50±42.50; rMSSD: 72.18±48.22, 58.14±28.49; SDANN: 125.13±13.50, 122.40±41.06; VLF: 112.85±29.07, 114.41±98.39; LF: 50.40±24.09, 45.69±15.13; HF: 39.28±19.86, 44.29±13.14; VHF: 10.29±4.24, 9.99±6.47; LF/HF: 1.90±1.44, 1.24±0.81; p>0.05). Conclusion The transcatheter closure of secundum ASDs was found to have a positive effect on HRV. Consequently, it may contribute to reduced mortality and morbidity. We can conclude that in children, HRV recovers approximately six months after transcatheter ASD closure.

Covid-19 Pneumonia of SARS-CoV-2 pandemic infection, persists to have high disease burden especially in cancer patients. Increased inflammation and thromboembolic processes are blamed to influence cancer patients more than the others but due to lack of knowledge regarding the pathophysiology of the both the virus itself and the response of the host, more basic and translational disease modeling research is needed to understand Cancer-Covid-19 interaction. In this study, serum samples from the patients, who were hospitalized due to Covid-19 pneumonia, applied to different cancer cells and cytotoxicity, motility, proliferation and gene expression analysis were performed. Serum samples derived from healthy volunteers and the fetal bovine serum that is used regularly in cell culture experiments used as controls. Hospitalized Covid-19 patients who had also cancer, were retrospectively screened, and their clinical course were recorded. Overall 12 Patient (PS) and 4 healthy serums (CS) were included in the experiments. PS applied cells showed increased motility in A549 cells as well as lost cell to cell connection in MCF7 and HCT116 cells, and induced expression of VIM, ZEB1 and SNAIL2 mRNA levels. Eight cancer diagnosed patients who were hospitalized due to Covid-19 between April and September 2020 were also reviewed retrospectively, which 5 of them were dead during SARS-CoV-2 infection. Thorax CT images of the 2 patients showed increased metastatic nodules in the lungs as of January 2021. The results of the study indicate that metastasis may be one of the prolonged consequences of COVID-19 pandemic in cancer sufferers.

Background In this study, we reported our experience with the use of cardiac event recorders in pediatric patients. Methods We evaluated 583 patients fitted with an event recorder (15–30 days) between March 2010 and November 2014 at our clinic. Excluded from the study were 117 patients with no recorded events and six with records contaminated by electrocardiogram artifacts. All of the patients received electrocardiograms, Holter monitoring, and echocardiography before the cardiac event recording. Results The patient sample consisted of 460 patients (64% female). The mean age was 12.8 ± 4.1 years. The median number of recorded events was 7. The indications included palpitations in 336 (73%) patients, syncope in 27 (6%) patients, and chest pain and palpitations in 97 (21%) patients. Whereas 64 patients (14%) had structural heart disease according to echocardiographic examination, the remaining patients had normal echocardiographic examination results. The most frequent cardiac comorbidities were mitral valve prolapse (6%), operated tetralogy of Fallot (1.5%), and complicated congenital heart diseases with single ventricle physiology (1%). The recorded events were sinus tachycardia in 113 (25%) patients, supraventricular tachycardia in 35 (8%) patients, ventricular extrasystole in 20 (4%) patients, supraventricular extrasystole in nine (2%) patients, and ventricular tachycardia in two (0.4%) patients. Based on the event recorder and follow-up electrocardiogram findings, 46 patients received an electrophysiology study/ablation. The symptom-rhythm correlation was 39%. Conclusion In the presence of possible arrhythmia-related symptoms in children, a cardiac event recorder can be considered a useful primary diagnostic method. More research on this topic is needed.