Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.

Background and purpose:

Neuro­fibromatosis type 1 (NF1) is a rare, auto­somal dominant multisystemic disease. The NF1 gene is localized on chromosome 17q11.2. Patients with NF1 have different clinical presentations and comorbidities. The aim of the present study is to determine the novel mutations and neurological comorbidities of NF1.

Patients who were diagnosed with NF1 by clinical criteria of the National Institutes of Health were included in the study. After a detailed examination, the NF1 gene was analysed with the help of next generation sequencing technology from pe­ripheral blood samples via MiSeq (Illu­mina, USA). Bioinformatic analyzes were per­for­med to evaluate the clinical sig­ni­fi­cance of the detected variants via the in­ternational databanks in accordance with the ACMG (American College of Medical Ge­netics) guide­line. In addition, cerebral-spinal MRI, cerebral angiography, and ENMG exa­mi­na­tions were performed if deemed necessary.

Twenty patients (12 female, 8 male) were included in the study. The mean age was 25.8±10 (10-56) years. Previously defined 13 different pathogenic mutations according to the ACMG criteria were identified in 18 patients. Also, two novel mutations were detected in 2 cases. Moreover, neurological comorbidities (moyamoya disease, multiple sclerosis, Charcot Marie Tooth Type 1A) were found in 3 patients with NF1.

In the present study two novel mutations and three different neurological comorbidities were identified in NF1.

The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a neuromuscular multisystem disease. Early involvement of facial muscles may produce an extra load on the temporomandibular joint (TMJ) in DM1. OBJECTIVES: This study aimed to investigate the morphological analyses of the bone components of temporomandibular joint (TMJ), and dentofacial morphology in myotonic dystrophy type 1 (DM1) patients by cone-beam computed tomography (CBCT). METHODS: Sixty-six individuals (33 DM1, and 33 healthy subjects) age ranging from 20 to 69 were included in the study. Clinical examinations of the patients' TMJ regions and evaluation of dentofacial morphology (maxillary deficiency, open-bite, deep palate and cross-bite) were performed. Dental occlusion was determined based on Angle's classification. CBCT images were evaluated regarding mandibular condyle morphology (convex, angled, flat and round) and osseous changes observed in the condyle (normal, osteophyte, erosion, flattening, sclerosis). DM1-specific morphological and bony TMJ alterations were determined. RESULTS: DM1 patients showed a high prevalence of morphological and osseous TMJ changes, and statistically significant skeletal alterations. The analysis of CBCT scans indicated the prevalent condylar shape among patients with DM1 was flat, the main osseous abnormality was flattening, there was a tendency towards skeletal Class II and a posterior cross-bite was frequently detected in DM1 patients. There was no statistically significant difference between the genders on the parameters evaluated in both groups. CONCLUSION: Adult patients with DM1 presented a high frequency of crossbite, tendency to skeletal Class II and morphological osseous alterations of TMJ. The analysis of the morphological condylar alterations in patients with DM1 may be beneficial in the diagnosis of TMJ disorders. This study reveals DM1-specific morphological and osseous TMJ alterations to provide an appropriate orthodontic/orthognathic treatment planning to patients.

Improved Kidney Allograft Function after Early Conversion of Fast IR-Tac Metabolizers to LCP-Tac.

Fast tacrolimus (Tac) metabolism is associated with a more rapid decline of renal function after renal transplantation (RTx). Because the pharmacokinetics of LCP-Tac (LCPT) and immediate-release Tac (IR-Tac) differ, we hypothesized that switching from IR-Tac to LCPT in kidney transplant recipients would improve the estimated glomerular filtration rate (eGFR), particularly in fast metabolizers. For proof of concept, we performed a pilot study including RTx patients who received de novo immunosuppression with IR-Tac. A Tac concentration-to-dose ratio (C/D ratio) < 1.05 ng/mL·1/mg defined fast metabolizers and ≥1.05 ng/mL·1/mg slow metabolizers one month after RTx. Patients were switched to LCPT ≥ 1 month after transplantation and followed for 3 years. Fast metabolizers (n = 58) were switched to LCPT earlier than slow metabolizers (n = 22) after RTx (2.0 (1.0−253.1) vs. 13.2 (1.2−172.8) months, p = 0.005). Twelve months after the conversion to LCPT, Tac doses were reduced by about 65% in both groups. The C/D ratios at 12 months had increased from 0.66 (0.24−2.10) to 1.74 (0.42−5.43) in fast and from 1.15 (0.32−3.60) to 2.75 (1.08−5.90) in slow metabolizers. Fast metabolizers showed noticeable recovery of mean eGFR already one month after the conversion (48.5 ± 17.6 vs. 41.5 ± 17.0 mL/min/1.73 m², p = 0.032) and at all subsequent time points, whereas the eGFR in slow metabolizers remained stable. Switching to LCPT increased Tac bioavailability, C/D ratio, and was associated with a noticeable recovery of renal function in fast metabolizers. Conversion to LCPT is safe and beneficial early after RTx.

Evaluation of ALSFRS-R Scale with Fuzzy Method in Amyotrophic Lateral Sclerosis.

Introduction: Amyotrophic lateral sclerosis (ALS) is a disease with high morbidity and mortality that adversely affects the activities of daily living. Disease progression in ALS is characterized by loss of function in bulbar, motor, and respiratory parameters. The revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R), which consists of 12 criteria, is used to determine disease effects on each of these functions. While each criterion is equally important when calculating the total ALSFRS-R score, the importance levels of the 12 criteria may vary in clinical practice. In this classical approach, the relationships among the parameters are not considered and the effects of bulbar, spinal, and respiratory dysfunctions on a patient's activities of daily living may be different. Methods: In this study, we aimed to evaluate ALS cases with the ALSFRS-R fuzzy method. Although each subheading in the ALSFRS-R had the same score, the disease score was determined by the fuzzy ALSFRS-R method, based on whether a subheading had priority in management of the disease. While creating the functional rating scale ALSFRS-R approach, fuzzy ALSFRS-R score values were obtained by creating fuzzy models for each main group and integrating the fuzzy model results of each main group into a separate model. Results: In total, 50 patients with definite ALS according to the El Escorial criteria (33 men [66%] and 17 women [34%]; mean age, 58.49±10.01 years) were included in the study. When ALSFRS-R results and fuzzy ALSFRS-R results were compared, the prioritization order of 45 patients increased using the fuzzy ALSFRS-R score, while the prioritization order of five patients remained the same in both evaluations. Conclusion: The approach obtained by using fuzzy membership functions and decision rules, formed in accordance with expert opinion, was applied to the data of 50 patients from a large-scale hospital. In total, 90% of the patients had increased prioritization when using the fuzzy ALSFRS-R scoring method. Our results showed that the fuzzy approach provided more accurate information regarding a patient's condition.

Neuropathic Pain Frequency in Neurology Outpatients: A Multicenter Study.

INTRODUCTION: Neuropathic pain is common, but the frequency of misdiagnosis and irrational treatment is high. The aim of this study is to evaluate the rate of neuropathic pain in neurology outpatient clinics by using valid and reliable scales and review the treatments of patients. METHODS: The study was conducted for 3 months in eleven tertiary health care facilities. All outpatients were asked about neuropathic pain symptoms. Patients with previous neuropathic pain diagnosis or who have neuropathic pain symptoms were included and asked to fill painDETECT and douleur neuropathic en 4 questions (DN4) questionnaire. Patients whose DN4 score is higher than 3 and/or painDETECT score higher than 13 and/or who are on drugs for neuropathic pain were considered patients with neuropathic pain. The frequency of neuropathic pain was calculated and the treatments of patients with neuropathic pain were recorded. RESULTS: Neuropathic pain frequency was 2.7% (95% CI: 1.5-4.9). The most common cause was diabetic neuropathy. According to painDETECT, the mean overall pain intensity was 5.7±2.4, being lower among patients receiving treatment. Pharmacological neuropathic pain treatment was used by 72.8% of patients and the most common drug was pregabalin. However, 70% of those receiving gabapentinoids were using ineffective doses. Besides, 4.6% of the patients were on medications which are not listed in neuropathic pain treatment guidelines. CONCLUSION: In our cohort, the neuropathic pain severity was moderate and the frequency was lower than the literature. Although there are many guidelines, high proportion of patients were being treated by ineffective dosages or irrational treatments.

Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1

Background/aim: The objectives of this study were to assess pharyngeal airway volume (PAV) in patients with myotonic dystrophy type 1 (DM1) by cone-beam computerized tomography (CBCT) and to evaluate the impact of diaphragm thickness and pulmonary function tests on PAV. Materials and methods: Thirty DM1 patients (10 female and 20 male; mean age 42.40 ± 12.07) were included in the study. Age and sex-matched thirty patients were participated as control group. In DM1 group pulmonary function tests (PFT) were performed. Independent t-test was used to compare PAV values of patients with DM1 and control group. The Mann­Whitney U test was used to compare the parameters according to sex ( p < 0.05). Pearson and Spearman correlation tests were used to evaluate the relationships between parameters of DM1 patients (p < 0.05). A multiple linear regression analysis was performed to explain the PAV with parameters that showed positive correlation with PAV. Results: Age of onset and disease duration were 22.37 ± 8.45 and 20.03 ± 12.08, respectively, in patients with DM1. PAV values of control group were significantly lower than DM1 group ( p < 0.001). Forced expiratory volume in 1 s and forced volume vital capacity values were higher in males than females in DM1 group according to sex ( p < 0.001). PAV values were greater in male patients than females of the DM1 group ( p = 0.022). Diaphragm thickness in DM1 group after inspiration and expiration were 2.60 ± 0.65 and 1.94 ± 0.40, respectively. According to the regression analysis, DTai and FVC were significantly explained the PAV. Conclusion: PAV was higher in DM1 group. There was a significant positive correlation between diaphragm thickness, pulmonary functions, and PAVs of DM1 patients. The amount of the PAV was mostly influenced by DTai and FVC. It is recommended to evaluate the PAV in patients with DM1 because of impaired respiratory functions and pharyngeal muscle involvement.

The Impact of the COVID-19 Lockdown on the Quality of Life in Chronic Neurological Diseases: The Results of a COVQoL-CND Study.

BACKGROUND: Coronavirus disease 2019 (COVID-19) pandemic and lockdown period may induce an impairment in quality of life (QoL), disruption in treatment (DIT), and posttraumatic stress disorder (PTSD) in chronic neurological diseases (CNDs). To reach this information, a multicenter, cross-sectional study (COVQoL-CND) was planned. Parkinson's disease (PD), headache (HA), multiple sclerosis (MS), epilepsy (EP), polyneuropathy (PNP), and cerebrovascular disease (CVD) were selected as the CND. METHODS: The COVQoL-CND study includes demographic data, the World Health Organization Quality of Life short form (WHOQOL-BREF), and Impact of Event Scale-Revised (IES-R) forms. RESULTS: The mean age of a total of 577 patients was 49 ± 17 (19-87 years), and the ratio of female/male was 352/225. The mean age of patients with PD, HA, MS, EP, PNP, and CVD were 65 ± 11, 39 ± 12, 38 ± 10, 47 ± 17, 61 ± 12, and 60 ± 15 years, respectively. The IES-R scores were found to be higher in the younger group, those with comorbid disease, contacted with CO-VID-19 patients, or diagnosed with COVID-19. In the group with a high IES-R score, the rate of DIT was found to be high. IES-R scores were negatively correlated with QoL. IES-R total scores were found highest in the CVD group and lowest in the PD group. The ratio of DIT was found highest in the PNP group and the lowest in the EP group. Contact with CO-VID-19 patients was high in the EP and HA group. CONCLUSIONS: The results of the COVQoL-CND study showed that lockdown causes posttraumatic stress and deterioration in the QoL in CND.

The importance of heart rate variability in predicting cardiac autonomic dysfunction in patients with amyotrophic lateral sclerosis.

AIM: Amyotrophic lateral sclerosis (ALS) is a progressive disease characterized by degeneration in the upper and lower motor neurons of the corticospinal tract, brain stem, and spinal cord. Recent studies have revealed that the disease does not present solely with motor neuron involvement. Accordingly, the aim of this study is to investigate the presence of cardiac autonomic impairment in patients diagnosed with ALS. MATERIAL AND METHOD: A total of 61 patients, who were diagnosed with ALS according to the Revised El Escorial Criteria (R-EEC), were included in this prospective study, in addition to the 29 healthy individuals, who were included in the study as controls. In order to assess the cardiac autonomic involvement, the presence of orthostatic hypotension was investigated, and transthoracic echocardiography and 24-hour electrocardiogram (ECG) using a Holter monitor were performed. RESULTS: Orthostatic hypotension was detected in 14 (22.2%) patients. Holter electrocardiogram results of the patient group revealed statistically significantly lower heart rate variability (HRV) indicators in the time domain (SDNN, SDANN, SDNN index, rMSSD, and pNN50) and in the frequency domain (high frequency [HF], low frequency [LF], and very low frequency [VLF]) than those of the control group (P < .05). CONCLUSION: Contrary to the popular opinion, cardiac autonomic dysfunction in patients with ALS can occur at any stage of the disease. Therefore, it is recommended that the patients are evaluated via periodic examinations during the follow-up period for cardiac autonomic involvement.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).

Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients.

The most common form of muscular dystrophy is known as Myotonic dystrophy Type 1 (DM1) in adults. It was aimed to investigate the relationship between antioxidant imbalance and diaphragm thickness with pulmonary function test results in peripheral blood of Myotonic Dystrophy Type 1 patients. In the prospective study, 33 DM1 and 32 healthy control groups were taken after the ethics committee decision (2018-10529). Antioxidant defence system enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX), glutathione reductase (GR), glutathione S-transferase (GST) and thiobarbituric acid reactive species (TBARS) levels were studied in blood samples. Also, muscular strength (MRC score), creatine kinase (CK) and diaphragm thicknesses were measured, and pulmonary function tests were performed. Among the studied parameters, TBARS levels and GPX, GR and GST activities in erythrocytes of DM1 patients showed a significant decrease in the range of 29-45% compared to the control group. MRC score, diaphragm thickness and inspiratory function test results at the end of inspiration and expiration were found lower though CK levels were higher in DM1 group. In the patient group, a positive correlation was found between antioxidant parameters (TBARS, CAT and GST) with diaphragm thicknesses and pulmonary function test though GPX showed a negative correlation with them. It was emphasized that the data obtained shows the harmful/pathogenic role of oxidative stress caused by free radicals in DM1, and also provide useful data for the treatment and processes of this disease.

Quality of life and related factors among chronic hepatitis B-infected patients: a multi-center study, Turkey.

BACKGROUND: The aim of this study was to assess health-related quality of life (HRQOL) among chronic hepatitis B (CHB) patients in Turkey and to study related factors. METHODS: This multicenter study was carried out between January 01 and April 15, 2015 in Turkey in 57 centers. Adults were enrolled and studied in three groups. Group 1: Inactive HBsAg carriers, Group 2: CHB patients receiving antiviral therapy, Group 3: CHB patients who were neither receiving antiviral therapy nor were inactive HBsAg carriers. Study data was collected by face-to-face interviews using a standardized questionnaire, Short Form-36 (SF-36) and Hepatitis B Quality of Life (HBQOL). Values equivalent to p < 0.05 in analyses were accepted as statistically significant. RESULTS: Four thousand two hundred fifty-seven patients with CHB were included in the study. Two thousand five hundred fifty-nine (60.1 %) of the patients were males. Groups 1, 2 and 3, consisted of 1529 (35.9 %), 1721 (40.4 %) and 1007 (23.7 %) patients, respectively. The highest value of HRQOL was found in inactive HBsAg carriers. We found that total HBQOL score increased when antiviral treatment was used. However, HRQOL of CHB patients varied according to their socio-demographic properties. Regarding total HBQOL score, a higher significant level of HRQOL was determined in inactive HBV patients when matched controls with the associated factors were provided. CONCLUSIONS: The HRQOL score of CHB patients was higher than expected and it can be worsen when the disease becomes active. Use of an antiviral therapy can contribute to increasing HRQOL of patients.

Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6.

INTRODUCTION: This study aimed to analyze the genotypic characteristics of Friedreich's ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar ataxia considering both clinical and electrophysiological findings. METHODS: The study included 129 indexed cases, who applied to the neurology department and were diagnosed with hereditary cerebellar ataxia through clinical, laboratory, and electrophysiological findings, and 15 sibling patients who were diagnosed through family scanning (144 cases in total); their genetic analyses were also performed. Detailed physical and neurological examinations, pedigree analyses, electroneurography, evoked potentials, cerebral-spinal magnetic resonance imaging, and echocardiographic analyses were performed for all cases. Blood samples were collected from patients, and the genotypic characteristics of autosomal dominant SCA types 1, 2, 3, and 6 were investigated. Statistical analyses were performed with the Statistical Package for the Social Sciences (SPSS Inc; Chicago, IL, USA) 17.0. RESULTS: Almost 50% of patients were defined as FA. Moreover, two SCA1 cases and one SCA6 case were detected. CONCLUSION: In our study, 47.2% of patients with FA had developed hereditary cerebellar ataxia. Ground and autosomal dominant-linked SCA1 and SCA6 were each detected in one family. These data suggest that patients with cerebellar ataxia of hereditary origin should be primarily examined for FA.

Adaptation to Turkish and Reliability Study of the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R).

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by progressive degeneration of the motor neurons. It is difficult to define the severity of the clinical findings of this destructive disease owing to its rapid progression, which presents serious alterations in a short time even in the same patient. The present study was designed to evaulate the validity of the Turkish version of the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), which has been used in various countries for measuring the functional status of ALS patients. METHODS: The ALSFRS-R scores of 41 ALS patients (24 male), in any stages of illness, were simultaneously assessed by two physicians. The functional status of the patients (motor system, bulbar, and pulmonary functions) was evaluated under 12 titles. In every subtitle, the functional status was evaluated as 0 for the worst functional status and 4 for the best functional status. The mean differentials for both subtitles and global scores and the 95% confidence bounds of these means were detected. The coherence was defined as the states in which the coefficient is above 0.80 and is statistically significant. RESULTS: From the data obtained, the correlation between the two physicians was found to be statistically significant (p=0.000) in terms of the means of both subtitles and total scores. CONCLUSION: It was shown in the present study that in the clinical follow-up of the disease, the Turkish version of ALSFRS-R is a simple, reliable, and easily applicable.

The distinct genetic pattern of ALS in Turkey and novel mutations.

The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population.

The effects of valproic acid and carbamazepine on strength-duration properties of peripheral nerve.

OBJECTIVE: To study strength-duration properties of motor and sensory axons to evaluate whether there is a change in current through the persistent sodium (Na+) channels of sensory and motor axons in peripheral nerves of epileptic patients before and after valproic acid (VPA) and carbamazepine (CBZ) treatment due to the presence of similar channels in the CNS and peripheral nervous system (PNS). METHODS: This study, conducted in Baskent University Faculty of Medicine, Adana, Turkey from January 2011 to February 2012, involved 10 patients with partial epilepsy, 10 patients with primary generalized epilepsy who were not currently prescribed anticonvulsant therapy, and 10 control subjects. Using an electromyography machine, stimulus intensity was performed to produce the target (40% of maximum) compound muscle action potentials and compound sensory action potentials. The currents required for different stimulus durations, 0.05, 0.1, 0.2, 0.3, 0.5, and 1 ms, were produced. Stimulus-response curves were then constructed, and the strength-duration time constants were estimated using Weiss`s formula. RESULTS: The rheobase of motor and sensory fibres was lower in the control group than the values of patients before and after CBZ and VPA therapy. CONCLUSIONS: In the PNS of epileptic patients, CBZ and VPA therapy results in decreased axonal excitability. This method may be used in investigating the underlying pathology of peripheral nerve diseases in vivo.

Fibromuscular Dysplasia and Intravenous Thrombolytic Treatment.

Fibromuscular dysplasia (FMD), which usually affects middle-aged and older women, is a non-atheromatous and non-inflammatory angiopathy. Definitive diagnosis is made only by angiography showing classic string-of-beads appearance. In this article, we present a patient with acute ischemic stroke due to FMD who was successfully treated with thrombolytic therapy as well as to revise the approach to FMD in the light of the literature.

Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.

The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral Sclerosis (ALS). We have performed a genome-wide CNV analysis using PennCNV tool and 733K GWAS data of 117 Turkish ALS patients and 109 matched healthy controls. Case-control association analyses have implicated the presence of both common (>5%) and rare (<5%) CNVs in the Turkish population. In the framework of this study, we identified several common and rare loci that may have an impact on ALS pathogenesis. None of the CNVs associated has been implicated in ALS before, but some have been reported in different types of cancers and autism. The most significant associations were shown for 41 kb and 15 kb intergenic heterozygous deletions (Chr11: 50,545,009-50,586,426 and Chr19: 20,860,930-20,875,787) both contributing to increased risk for ALS. CNVs in coding regions of the MAP4K3, HLA-B, EPHA3 and DPYD genes were detected however, after validation by Log R Ratio (LRR) values and TaqMan CNV genotyping, only EPHA3 deletion remained as a potential protective factor for ALS (p = 0.0065024). Based on the knowledge that EPHA4 has been previously shown to rescue SOD1 transgenic mice from ALS phenotype and prolongs survival, EPHA3 may be a promising candidate for therepuetic interventions.

Three-year evaluation of nosocomial infection rates of the ICU.

BACKGROUND AND OBJECTIVES: Evaluating the incidence of nosocomial and invasive device-related infections enables the comparison of the health care associated infection (HAI) between the intensive care units of different hospitals and different units in the same hospital. MATERIAL AND METHODS: A retrospective surveillance study was performed to identify nosocomial infections, device-related infections rates, and causal agents from January 2007 through December 2010 in the Anesthesiology Intensive care unit (ICU). HAI were defined according to the CDC (Centers for Disease Control and Prevention) criteria, and invasive device-related infections were defined according to National Nosocomial Infection Surveillance System (NNIS) criteria. RESULTS: During a two-year period, 939 patients were analyzed throughout a total of 7,892 patient-days. The rates of HAI were 53% in 2007, 29.15% in 2008, 28.85% in 2009 while 16.62% in 2010. Most common HAI was blood stream infection. The rate of soft tissue and skin infection was the second most common. Overall, the most common agents were Gram(-) 56.68%, Gram(+) 31.02% and Candida spp 12.3% among patients with nosocomial infections. CONCLUSIONS: The incidence of HAI in the ICU of our hospital was high, compared to the Turkish overall rates obtained at the Refik Saydam Center in 2007. When the rates of device-related infections between 2007 and 2008 were compared, they were higher in 2007. The rates of device-related infections were diminished in 2008 to below-national mean rates by infection control measures. Since the rate of urinary catheter-related infections are still high, we should exert continuous efforts for infection control.

Três anos de avaliação das taxas de infecção nosocomial em UTI / Three-year evaluation of nosocomial infection rates of the ICU / Tres años de evaluación de las tasas de infección nosocomial en UCI

JUSTIFICATIVA E OBJETIVOS: Avaliar a incidência de infecções nosocomiais associadas aos dispositivos invasivos permite comparar as infecções associadas aos cuidados em saúde (IACS) entre as unidades de terapia intensiva (UTI) de diferentes hospitais e unidades do mesmo hospital. MATERIAL E MÉTODOS: De janeiro de 2007 a dezembro de 2010, um estudo de vigilância retrospectivo foi realizado para identificar infecções nosocomiais, taxas de infecções relacionadas a dispositivos e agentes causadores na UTI de anestesiologia. As IACS foram definidas de acordo com os critérios do Centro de Controle e Prevenção de Doenças (CDC) e as infecções relacionadas aos dispositivos invasivos definidas de acordo com os critérios do Sistema Nacional de Vigilância de Infecções Nosocomiais (NNIS). RESULTADOS: Durante dois anos, 939 pacientes em um universo de 7.892 pacientes/dia foram avaliados. As taxas de IACS foram de 53% em 2007, 29,15% em 2008, 28,85% em 2009 e 16,62% em 2010. A IACS mais comum foi infecção da corrente sanguínea. A taxa de infecção de tecido mole e pele foi a segunda. Entre os pacientes com infecções nosocomiais, os agentes causadores mais comuns foram Gram (-) 56,68%, Gram (+) 31,02% e candidíase 12,3%. CONCLUSÕES: A incidência de IACS na UTI de nosso hospital foi alta, em comparação com as taxas turcas globais obtidas no Refik Saydam Center em 2007. Quando as taxas de infecções relacionadas aos dispositivos foram comparadas entre 2007 e 2008, foram maiores em 2007. A taxas de infecções relacionadas aos dispositivos em 2008 foram reduzidas abaixo da média nacional por causa das medidas de controle de infecção. Como a taxa de infecções relacionada ao cateter urinário ainda permanece alta, devemos exercer esforços contínuos para o controle das infecções.

BACKGROUND AND OBJECTIVES: Evaluating the incidence of nosocomial and invasive device-related infections enables the comparison of the health care associated infection (HAI) between the intensive care units of different hospitals and different units in the same hospital. MATERIAL AND METHODS: A retrospective surveillance study was performed to identify nosocomial infections, device-related infections rates, and causal agents from January 2007 through December 2010 in the Anesthesiology Intensive care unit (ICU). HAI were defined according to the CDC (Centers for Disease Control and Prevention) criteria, and invasive device-related infections were defined according to National Nosocomial Infection Surveillance System (NNIS) criteria. RESULTS: During a two-year period, 939 patients were analyzed throughout a total of 7,892 patientdays. The rates of HAI were 53% in 2007, 29.15% in 2008, 28.85% in 2009 while 16.62% in 2010. Most common HAI was blood stream infection. The rate of soft tissue and skin infection was the second most common. Overall, the most common agents were Gram(-) 56.68 %, Gram(+) 31.02% and Candida spp 12.3% among patients with nosocomial infections. CONCLUSIONS: The incidence of HAI in the ICU of our hospital was high, compared to the Turkish overall rates obtained at the Refik Saydam Center in 2007. When the rates of device-related infections between 2007 and 2008 were compared, they were higher in 2007. The rates of devicerelated infections were diminished in 2008 to below-national mean rates by infection control measures. Since the rate of urinary catheter-related infections are still high, we should exert continuous efforts for infection control.

JUSTIfiCATIVA Y OBJETIVOS: La evaluación de la incidencia de las infecciones nosocomiales asociadas con los dispositivos invasivos, permite comparar las infecciones relacionadas con la asistencia a la sanidad (IRAS) entre las UCIs de diferentes hospitales y las unidades del mismo hospital. MATERIAL Y MÉTODOS: De enero de 2007 a diciembre de 2010, un estudio de vigilancia retrospectivo fue realizado para identificar infecciones nosocomiales, tasas de infecciones relacionadas con los dispositivos y agentes causantes en la unidad de cuidados intensivos (UCI) de anestesiología. Las IRAS se definieron de acuerdo con los criterios del Centro de Control y Prevención de Enfermedades (CDC) y las infecciones relacionadas con los dispositivos invasivos definidas de acuerdo con los criterios del Sistema Nacional de Vigilancia de Infecciones Nosocomiales (NNIS). RESULTADOS: Durante dos años, se evaluaron 939 pacientes dentro de un universo de 7.892 pacientes/día. Las tasas de IRAS alcanzaron el umbral del 53% en 2007, 29,15% en 2008, 28,85% en 2009 y 16,62% en 2010. La IRAS más frecuente fue la infección de la corriente sanguínea. La tasa de infección de tejido suave y de la piel fue la segunda. Entre los pacientes con infecciones nosocomiales, los agentes causantes más a menudo encontrados fueron Gr (-) 56,68%, Gr (+) 31,02% y la candidiasis 12,3%. CONCLUSIONES: La incidencia de IRAS en la UCI de nuestro hospital fue alta en comparación con las tasas turcas globales obtenidas en el Refik Saydam Center en 2007. Cuando las tasas de infecciones relacionadas con los dispositivos se compararon entre 2007 y 2008, fueron mayores en el 2007. Las tasas de infecciones relacionadas con los dispositivos en 2008 quedaron por debajo del promedio nacional a causa de las medidas de control de infección. Como la tasa de infecciones relacionada con el catéter urinario todavía permanece alta, debemos esforzarnos más en el sentido de controlar las infecciones.