PubMed Açık Erişimli Yayınlar

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    3q29 Microdeletion Syndrome Associated with Developmental Delay and Pulmonary Stenosis: A Case Report
    (2022) Kaba, Duygu; celik, Zerrin Yilmaz; 36305444
    Background. 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.Case. A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.Conclusions. In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.
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    A 10-year retrospective analysis of intimate partner violence patients in the emergency department
    (2022) Kavak, Nezih; Kavak, Rasime Pelin; Ozdemir, Meltem; Sever, Mustafa; Ertan, Nurcan; 35652880
    BACKGROUND: Intimate partner violence (IPV) is an important human rights problem faced by one in three women worldwide. The aim of this study is to evaluate the demographic, trauma, and radiological characteristics of patients admitted to a tertiary emergency department due to IPV. METHODS: Sociodemographic characteristics (age, gender, education level, and marital status), trauma characteristics (severity, type, and location), radiological imaging findings (radiography, computed tomography, and magnetic resonance imaging) of patients diagnosed with IPV were evaluated. RESULTS: In the study, 1225 patients were evaluated, and 98.7% of them were women (mean age 35 [IQR: 17] years). Of the patients, 63.1% were high school and university graduates. The rate of married women was 74.6%. No relationship was found between gender, age, educational status, and marital status (p>0.05). Most of the traumas were minor (85.4%) and blunt (81.9%) trauma, and the most common types of trauma were kicking (49.9%) and punching (47.3%). It was found that the most frequently affected areas of the patients were the head and neck (76.7%), and the frequency of pelvic trauma was high in male patients (p<0.05). The most common bone fracture was nasal (40.5%) followed by ulna fractures (14.5%). The left-sided diaphyseal fractures were the most common in patients exposed to IPV. In our study, the frequency of mortality was 12.9%, and it was found to be significantly higher in males (p<0.05). CONCLUSION: Female patients are more frequently exposed to IPV. Specific injury characteristics can be detected in patients diagnosed with IPV and old fractures detected in these patients should alert the clinician about IPV.
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    Accepting Restrictions and Compliance With Recommended Preventive Behaviors for COVID-19: A Discussion Based on the Key Approaches and Current Research on Fear Appeals
    (2021) Demirtas Madran, H. Andac; 0000-0002-3444-8845; 34163389
    COVID-19 (Coronavirus disease 2019) is a novel coronavirus which was first detected in late December 2019 in the Wuhan Province of China. This novel coronavirus, caused by a zoonotic beta-coronavirus (SARS-CoV-), is described as highly infectious. The World Health Organization (WHO) named the novel coronavirus as COVID-19 on February 11, 2020, and declared it as a "pandemic." Almost all countries have undertaken wide-scale precautions so as to prevent or limit the spread of the virus, with most having practiced some form of "lockdown" along with "social distancing," as well as dispensed recommendations for proper hand washing, avoiding touching the face, wearing facemasks, and using disposable tissues when either coughing or sneezing. Whereas it is well known that slowing the spread of this new epidemic requires the cooperation of all citizens, some people still seem to willfully disregard the rules and guidelines, and thereby ignore the health risks posed to both themselves and to others they come into contact with. People have responded differently to lockdown rules and social distancing practices. Whilst the majority follow the rules and recommendations with great care, others are more lax or simply refuse to comply. These differences might be accounted for according to a number of factors including personal, social, cultural, mental, and economic variables. Being persuaded to comply with preventive rules, especially those concerned with health-related behaviors, also bring certain other factors into play. Fear is one of those factors, and is one of the most powerful. It is well known that fear-based appeals can be effective in inculcating health behaviors, with many theories having been developed in this area. However, both the content of the message (the level of the fear it contains) and certain personal variables can determine the persuasive power of the fear appeal. It can even have an adverse effect if not properly applied. Many theories have been developed to address the persuasive effectiveness of the fear appeal (e.g., fear-drive theory, protection-motivation theory), and this study aims to discuss these individual differences in precautionary and preventive measures for the COVID-19 pandemic within the framework of the basic assumptions of these theoretical approaches.
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    Accuracy of high-resolution ultrasound (US) for gingival soft tissue thickness mesurement in edentulous patients prior to implant placement
    (2021) Sonmez, Gul; Kamburoglu, Kivanc; Gulsahi, Ayse; 33201732
    Objectives: To evaluate and compare the accuracy of high-resolution ultrasound (US) with two different cone beam CT (CBCT) units and clinical assessment for measuring gingival soft tissue thickness in edentulous patients prior to implant placement. Methods and materials: The study consisted of 40 maxillary implant sites of 40 healthy patients (20 females, 20 males; mean age, 47.88 years). We prospectively evaluated labial/buccal gingival thickness in 40 implant regions (16 anterior and 24 posterior) by using limited field of view (FOV) CBCT images and US images in comparison to gold standard transgingival probing measurements. One-way analysis of variance (ANOVA) was used to compare mean measurements obtained from CBCT (Morita and Planmeca), US, and transgingival probing. Interclass correlation coefficient (ICC) estimates were calculated based on means with two-way mixed and absolute-agreement model. Bland Altman plot was used to describe agreement between clinical vs US and CBCT measurements by constructing limits of agreement. Statistical significance was set at p < 0.05. Results: There was no significant difference between methods used according to mean gingival thickness measurements obtained from the top (p = 0.519) and bottom (p = 0.346) of the alveolar process. US and CBCT measurements highly correlated with clinical measurements for both top and bottom alveolar process gingival thickness (p < 0.001). Distribution of differences between clinical measurements and both CBCT measurements showed statistically significant differences according to 0 (p < 0.05). Distribution of differences between clinical measurements and US measurements did not show statistically significant difference (p > 0.05). Conclusion: High-resolution US provided accurate information for the measurement of gingival soft tissue thickness in edentulous patients prior to implant placement.
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    Acute-Phase Stroke Outcome and Lipids
    (2021) Kaya, Ahmet; 35317377
    Objectives: The aim of the study is to investigate the relationship of lipid subgroups with short-term mortality in acute stroke (AS). Methods: This retrospective study included 698 patients with AS who presented within 24 h of symptom onset. A hemogram from peripheral venous blood samples was taken at admission. Total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low- density lipoprotein cholesterol (LDL- C), TC/HDL-C rate, and TG/HDL-C rate were recorded. Duration of follow-up was defined as 30 days. Results: 64 out of 698 patients died during the follow-up period. The mean TG, TG/HDL-C, and TC/HDL-C levels were significantly lower in the mortality group than the survival group. In the receiver operating characteristic (ROC) analysis, the cutoff values and area under the curve of the TG, TG/HDL-C, TC, and TC/HDL- C levels for short-term stroke mortality are as follows ([100.2 mg/dL, 0.648]; [2.52, 0.650]; [170.50 mg/dL, 0.598]; and [4.32, 0.640], respectively). In the Cox regression model, only TG and TG/HDL-C, according to their ROC cutoff values, were independent variables as short-term mortality predictors ( TG =100.2 mg/dL, HR:2.413, 95% CI: 1.345-4.327, P:0.004); ( TG/HDL =2.56, HR: 2.720, 95% CI: 1.389-5.359, P:0.003, respectively). Conclusion: Dyslipidemia is a well-known as a risk factor of stroke. However, this study focused on the estimation that lower TG and TG/HDL-C levels at the time of hospital admission might be predictors of short-term mortality within a month of AS attack, which is a different subject from long term risk factors of stroke. Serum TG level may be a better indicator for mortality in the acute hypercatabolic trauma such as stroke.
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    ABO and Rh Blood Groups and Risk of Myelomeningocele
    (2020) Isik, Semra; Cevik, Serdar; Turhan, Ali Haydar; Baygul, Arzu; Hanimoglu, Hakan; 32239487
    AIM: To investigate the relationship between the distribution of ABO or Rhesus (Rh) blood group antigens and the incidence of myelomeningocele. MATERIAL and METHODS: A retrospective data was reviewed for all myelomeningocele patients operated at a tertiary academic hospital between years 2014 and 2019. Age, sex, delivery method, physical and neurological examination findings, and radiological findings alongside with blood type of each patient were recorded. The data of blood group distribution among the study patients was compared to the data of healthy individuals in the same region. RESULTS: Patients with group B and AB showed a higher chance of developing myelomeningocele. Rh-positive blood group was associated with high incidence of myelomeningocele (93.5%), whereas Rh-negative blood group showed least association (6.5%). Rh-positive blood group was also found to be more frequent in patients with myelomeningocele with hydrocephalus and Chiari malformation. CONCLUSION: The findings of this study show that ABO and Rh blood groups have an effect on the development of myelomeningocele under the influence of environmental or genetic factors.
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    Adherence to guideline-directed medical and device Therapy in outpAtients with heart failure with reduced ejection fraction: The ATA study
    (2020) Kocabas, Umut; Sariturk, Cagla; Altay, Hakan; Pehlivanoglu, Seckin; 32628147; AAE-1392-2021
    Objective: Despite recommendations from heart failure guidelines on the use of pharmacologic and device therapy in patients with heart failure with reduced ejection fraction (HFrEF), important inconsistencies in guideline adherence persist in practice. The aim of this study was to assess adherence to guideline-directed medical and device therapy for the treatment of patients with chronic HFrEF (left ventricular ejection fraction <= 40%). Methods: The Adherence to guideline-directed medical and device Therapy in outpAtients with HFrEF (ATA) study is a prospective, multicenter, observational study conducted in 24 centers from January 2019 to June 2019. Results: The study included 1462 outpatients (male: 70.1%, mean age: 67 +/- 11 years, mean LVEF: 30%+/- 6%) with chronic HFrEF. Renin-angiotensin system (RAS) inhibitors, beta-blockers, mineralocorticoid receptor antagonists (MRAs), and ivabradin were used in 78.2%, 90.2%, 55.4%, and 12.1% of patients, respectively. The proportion of patients receiving target doses of medical treatments was 24.6% for RAS inhibitors, 9.9% for beta-blockers, and 10.5% for MRAs. Among patients who met the criteria for implantable cardioverter-defibrillator (ICD) and cardiac resynchronization therapy (CRT), only 16.9% of patients received an ICD (167 of 983) and 34% (95 of 279) of patients underwent CRT (95 of 279). Conclusion: The ATA study shows that most HFrEF outpatients receive RAS inhibitors and beta-blockers but not MRAs or ivabradin when the medical reasons for nonuse, such as drug intolerance or contraindications, are taken into account. In addition, most eligible patients with HFrEF do not receive target doses of pharmacological treatments or guideline-recommended device therapy.
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    The acromegaly registry of ten different centers in Turkey
    (2020) Keskin, Caglar; Demir, Ozgur; Karci, Alper Cagri; Berker, Dilek; Canturk, Zeynep; Yaylali, Guzin Fidan; Topsakal, Senay; Ersoy, Reyhan; Bayram, Fahri; Ertorer, Melek Eda; Bozkirli, Emre; Haydardedeoglu, Filiz; Dilekci, Esra Nur Ademoglu; Ay, Seyid Ahmet; Cansu, Guven Baris; Sahin, Mustafa; Emral, Rifat; Corapcioglu, Demet; 0000-0002-0179-9673; 0000-0001-7357-8709; 32417639; AAK-5003-2021; ABI-3705-2020; ABI-3393-2020
    Objectives: To describe biochemical and clinical features, and therapeutic outcomes of acromegaly patients in Turkey. Methods: Retrospective multicenter epidemiological study of 547 patients followed in 10 centers of the Turkish Acromegaly registry. Results: A total of 547 acromegaly patients (55% female) with a median age of 41 was included in this study. Majority of patients had a macroadenoma (78%). Transsphenoidal surgery was performed as primary treatment in 92% of the patients (n = 503). Surgical remission rate was 39% (197/503) in all operated patients. Overall disease control was achieved in 70% of patients. Remission group were significantly older than non-remission group (p = .002). Patients with microadenomas had significantly higher remission rates than patients with macroadenomas (p < .001). Patients with microadenomas were significantly older at the time of diagnosis when compared to patients with macroadenomas (p < .001). Preoperative growth hormone (GH) and insulin-like growth factor 1 (IGF-1) levels were significantly lower in the remission group (p < .001). Initial IGF-1 and GH levels were significantly higher in macroadenomas compared to microadenomas (p < .001). Medical treatment was administered as a second-line treatment (97%) in almost all patients without remission. Radiotherapy was preferred in 21% of the patients mostly as a third line treatment. Conclusions: This is one of the largest real life studies evaluating the epidemiological characteristics and treatment outcomes of patients with acromegaly who were followed in different centers in Turkey. Transsphenoidal surgery in the treatment of acromegaly still remains the most valid method. Medical treatment options may improve long-term disease outcomes in patients who cannot be controlled with surgical treatment (up to 70%).
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    Adequacy of Infective Endocarditis Prophylaxis Before Dental Procedures among Solid Organ Transplant Recipients
    (2019) Karacaglar, Emir; Akgun, Arzu; Ciftci, Orcun; Altiparmak, Nur; Muderrisoglu, Haldun; Haberal, Mehmet; 0000-0002-9635-6313; 31464231; AAG-8233-2020
    Infective endocarditis (IE) is a life-threatening condition with high morbidity and mortality. The current IE guidelines recommend antibiotic prophylaxis only in patients with certain cardiac conditions and before certain dental procedures. However, there is not enough data about solid organ transplant (SOT) recipients. In this study, we aimed to investigate the IE prophylaxis in general dental and periodontal surgical procedures among our SOT recipients. Medical records of 191 SOT recipients (32 liver transplant recipients, 54 heart transplant recipients, and 105 kidney transplant recipients) who were admitted to our hospital between January 2016 and January 2018 were evaluated. A total of 65 patients who underwent dental procedures were included in the study. We investigated the adequacy of IE prophylaxis according to the current guidelines. Two groups were created according to whether they received antibiotic prophylaxis or not. The mean age was 44.2 +/- 13.6 years, and 66.1% were male. The majority of patients (67.6%) received antibiotic prophylaxis. The most commonly used antibiotic was amoxicillin (48.8%). Among the procedures, 23.1% were classified as invasive and 76.9% were classified as noninvasive. No complication was observed after invasive and noninvasive dental procedures. There were no complications in both antibiotic prophylaxis and no-prophylaxis groups. According to our results, IE prophylaxis has been used appropriately in SOT recipients in our center. No serious infection has been reported. In addition, no complication due to antibiotic use was also observed.