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22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation
(2015) Erol, Ilknur; Onay, Ozge Surmeli; Yilmaz, Zerrin; Ozer, Ozge; Alehan, Fusun; Sahin, Feride Iffet
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.
Abdominal Problems in Children with Congenital Cardiovascular Abnormalities
(2015) Guney, Lutfi Hakan; Araz, Coskun; Beyazpinar, Deniz Sarp; Arda, Irfan Serdar; Arslan, Esra Elif; Hicsonmez, Akgun; 26185717
Background: Congenital cardiovascular abnormality is an important cause of morbidity and mortality in childhood. Both the type of congenital cardiovascular abnormality and cardiopulmonary bypass are responsible for gastrointestinal system problems. Aims: Intra-abdominal problems, such as paralytic ileus, necrotizing enterocolitis, and intestinal perforation, are common in patients who have been operated or who are being followed for congenital cardiovascular abnormalities. Besides the primary congenital cardiovascular abnormalities, ischemia secondary to cardiac catheterization or surgery contributes to the incidence of these problems. Study Design: Cross-sectional study. Methods: In this study, we aimed to screen the intra-abdominal problems seen in patients with congenital cardiovascular abnormalities who had undergone surgical or angiographical intervention(s). Patients with congenital cardiovascular abnormalities who had been treated medically or surgically between 2000 and 2014 were analyzed retrospectively in terms of intra-abdominal problems. The patients' demographic data, type of congenital cardiovascular abnormalities, the intervention applied (surgical, angiographic), the incidence of intra-abdominal problem(s), the interventions applied for the intra-abdominal problems, and the results were evaluated. Results: Fourteen (Group I) of the 76 patients with congenital cardiovascular abnormalities diagnosis were operated due to intra-abdominal problems, and 62 (Group II) were followed-up clinically for intra-abdominal problems. In Group I (10 boys and 4 girls), 11 patients were aged between 0 and 12 months, and three patients were older than 12 months. Group II included 52 patients aged between 0 and 12 months and 10 patients older than 12 months. Cardiovascular surgical interventions had been applied to six patients in Group I and 40 patients in Group II. The most frequent intra-abdominal problems were necrotizing enterocolitis and intestinal perforation in Group I, and paralytic ileus in Group II. Seven of the Group I patients and 22 of the Group II patients died. The patients who died in both groups had more than three congenital cardiovascular abnormalities in the same patient, and 80% of these patients had been operated for congenital cardiovascular abnormalities. Conclusion: The gastrointestinal system is involved in important complications experienced by patients with congenital cardiovascular abnormalities. The mortality rate was higher in operated patients due to gastrointestinal complications. Gastrointestinal complications are more frequent in patients with cyanotic anomalies. The presence of more than one congenital cardiovascular abnormality in a patient increased the mortality rate.
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.
Abused-Abuser Dilemma in Sexual Abuse and Forensic Evaluation: a Case Report
(2017) Kutuk, Meryem Ozlem; Guler, Gulen; Tufan, Ali Evren; Sanberk, Sati; 0000-0002-2918-7871; AAI-9626-2021
The factors such as having family problems, growing up in a disintegrated family, having parents with personality disorders, expressing physical and mental deficiencies, history of alcohol and substance abuse, previous history of sexual abuse, and lack of social support may increase the risk of being exposed to sexual abuse. According to the previous studies about one-third of children who are subjected to abuse may become abusers in the future. In such a condition, a dilemma of abuse-abuser has been experienced. Importantly, additional medical mistakes and lack of experience in such cases make legal evaluation processes more complex. In this case report, we discussed a pediatric patient who was abused by a babysitter with a history of abuse in her adolescence. Early recognition of sexual abuse, treatment of developing psychiatric disorders, and a follow-up program are necessary to minimize the vicious cycle of abused-abuser.
Acetamiprid Poisoning Followed By Prolonged Muscle Weakness
(2017) Pinar, Huseyin Ulas; Dogan, Rafi; Konuk, Mine; Sener, Aylin; Karaca, Omer; 0000-0003-0473-6763; 0000-0003-1933-2075; Q-2420-2015; AAU-6923-2020
Neonicotinoids, a new insecticide group, are considered to possess a low toxicity profile for humans. In this paper, a 41-year-old female patient who was treated for prolonged muscle weakness at an intensive care unit for 22 days and discharged without any sequela following oral acetamiprid intake for suicidal purposes is reported. After developing a clinical picture similar to the intermediate syndrome seen in organophosphate poisoning, the patient recovered with the help of symptomatic and supportive treatment.
Acquired pseudoaneurysm of the sinus of Valsalva
(2017) Coner, Ali; Akinci, Sinan; Cicek, Davran; Saba, Tonguc; Muderrisoglu, Haldun; 0000-0001-5250-5404; 0000-0002-9635-6313; 0000-0002-5711-8873; 28902654; AAD-5564-2021; AAG-8233-2020; ABD-7321-2021; AAC-8036-2020
Acute appendicitis during pregnancy: case series of 20 pregnant women
(2016) Arer, Ilker Murat; Alemdaroglu, Songul; Yesilagac, Hasan; Yabanoglu, Hakan; 0000-0002-1161-3369; 0000-0003-4335-6659; 0000-0002-1365-9256; 28074461; AAJ-7865-2021; AAY-2668-2021; AAI-8400-2021; AAJ-6068-2021
BACKGROUND: Acute appendicitis (AA) is the most common cause of acute abdomen during pregnancy. Most of the signs of appendicitis are also found during normal pregnancy period, however, and diagnosis of appendicitis during pregnancy remains challenging. The aim of the current study was to report our clinical experience of AA during pregnancy and investigate optimal management of this difficult situation. METHODS: Records of 20 pregnant women with diagnosis of AA who underwent appendectomy between 2005 and 2015 were included in this study. Data were collected retrospectively. Patients were evaluated according to age, signs and symptoms, gestational age, physical findings, serum white blood cell count, ultrasound (US) findings, pathology reports, surgical technique, operation time, and complications. RESULTS: Of 20 patients, 16 (80%) underwent open appendectomy and 4 (20%) underwent laparoscopic appendectomy. Mean age of patients was 29.6 +/- 5.6 years. Most common symptom was abdominal pain (95%). Six (30%) patients were in first trimester, 9 (45%) patients were in second trimester and 5 (25%) patients in were in third trimester. US findings consistent with AA were found in 12 (60%) patients. Negative appendectomy rate was 30%. Maternal complication was seen in only 1 (5%) patient. No fetal complication was observed. CONCLUSION: Accurate diagnosis and prompt surgical treatment of AA in pregnant women should be performed due to high rates of maternal and fetal complications.
Acute Coronary Syndrome In Geriatric Patients In An Intensive Care Unit
(2021) Keskin, Suzan; Akgun, Arzu Neslihan; Ciftci, Orcun; Muderrisoglu, Ibrahim Haldun
Objective: The advancing age of acute coronary syndrome and the ageing population are leading to an increase in the number of elderly patients with acute coronary syndrome in our clinical practice. In our study, we aimed to investigate the effect of acute coronary syndrome in the geriatric patient group. Materials and Method: We retrospectively included geriatric patients who were in intensive care units because of different diagnoses, who also showed an acute coronary syndrome, and who had been diagnosed using the sequential organ failure assessment score. This score is used to describe the condition of a patient with sepsis and the extent of organ damage during treatment in an intensive care unit. We reviewed patients who were at Baskent University Faculty of Medicine between 25 March 2015 and 12 March 2020. Results: We included 63 patients aged 77.27 +/- 7.65 years. There were 40 (63.5%) males and 23 (36.5%) females. A total of 42 (89.4%) patients died in the first 5 months, one (2.1%) died between the 6th and 10th months, two (4.3%) between the 11th and 20th months, and two (4.3%) between the 21st and 30th months. We found a significant relationship between the sequential organ failure assessment score and mortality rate (p<0.05). The sequential organ failure assessment score was reliable in predicting mortality in geriatric patients with acute coronary syndrome, with 57% sensitivity and 75% specificity. Conclusion: Mortality of geriatric patients with acute coronary syndrome can be significantly determined using the sequential organ failure assessment scores.
Acute Respiratory Distress Syndrome and Myocarditis Caused by Human Metapneumovirus in a Child
(2020) Yakut, Kahraman; Varan, Birgul; Erdogan, Ilkay; Tokel, Kursad; 0000-0002-6759-1795; 0000-0002-9221-5636; AAJ-2305-2021; AAF-3253-2021
Human metapneumovirus (hMPV), a recently described paramyxovirus, has commonly been associated with upper and lower respiratory tract infections in young children. Severe infections including cardiovascular disease associated with hMPV have been particularly reported in older and immunocompromised patients; however, there has been no previous report of hMPV causing myocarditis in a child. In this article, we present a rare case with acute respiratory distress syndrome and myocarditis associated with hMPV in a child.
Acute stress disorder with panic episodes induced by exposure to COVID-19 outbreak news in a child
(2020) Kaba, Duygu; Sari, Burcu Akin; 0000-0002-4261-8509; AAJ-8600-2021
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.
An add-on therapy for neuropathic pain: Infiltration block with diclofenac sodium and lidocaine through the hypertrophic scar tissue
(2019) Eker, Hatice Evren; Yalcin Cok, Oya; Bozdodan Ozyilkan, Nesrin; Aribodan, Anis; 30633313
In some situations, the cause of the supposed neuropathic pain might be related to abnormal tissue recovery such as scar formation due to wound retraction that might create mechanical compression on the nerve tissue. In this report we describe infiltration block with diclofenac sodium and lidocaine through the hypertrophic scar tissue to reduce mechanical stress in 3 patients. The infiltration technique might resolve the tension of the contracted scar tissue by tearing the adhesions and the eliminated mechanical compression would reduce the pressure on nerve tissue and hence neuropathic pain symptoms.
ADHERENCE TO GUIDELINE-DIRECTED MEDICAL AND DEVICE THERAPY IN HEART FAILURE WITH REDUCED EJECTION FRACTION
(2020) Kocabas, Umut; Kivrak, Tarik; Oztekin, Gulsum Meral Yilmaz; Tanik, Veysel Ozan; Ozdemir, Ibrahim; Kaya, Ersin; Yuce, Elif Ilkay; Demir, Fulya Avci; Dogdus, Mustafa; Pehlivanoglu, Seckin; ABA-3670-2020
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.
ADMA is a useful marker, but many confounding factors should be considered! Reply
(2015) Bal, Ugur Abbas; Yildirir, Aylin; 25789383
Admission Tpe interval predicts reperfusion success in STEMI patients treated with fibrinolytic agents
(2020) Coner, Ali; Akinci, Sinan; Akkucuk, Mehmet Husamettin; Altin, Cihan; Muderrisoglu, Haldun; 0000-0002-9635-6313; 0000-0003-4569-1143; 0000-0001-5250-5404; 31974326; AAG-8233-2020; AAJ-2828-2021; AAD-5564-2021
Objective: Myocardial infarction is a leading cause of morbidity and mortality. Fibrinolytic administration is still a life-saving choice in ST-segment elevated myocardial infarction (STEMI), but the rate of successful reperfusion can be inconsistent. Failed reperfusion adds additional clinical risks to rescue percutaneous coronary intervention for STEMI patients. The interval between the peak of the T wave and the end of the T wave (Tpe) and the ratio of Tpe and a corrected measurement of the time from the start of the Q wave to the end of the T wave (Tpe/QTc ratio) are relatively new electrocardiogram (ECG) indices and have not yet been tested in STEMI patients treated with fibrinolytic agents. Methods: A total of 177 STEMI patients (mean age: 60.5 +/- 11.1 years; 138 men and 39 women) were enrolled in this retrospective study to evaluate ECG parameters. The Tpe interval and the Tpe/QTc ratio at baseline and at the 90th minute following the administration of fibrinolytic therapy were analyzed. The clinical and ECG findings of successful and failed reperfusion groups were compared. Results: Successful reperfusion was achieved in 119 patients (67.2%). The average Tpe interval on the admission ECG was shorter (91.7 vs. 100.9 milliseconds [ms]) (p<0.001) and shortened more in the successful reperfusion group (9.3 vs. 4.5 ms) (p<0.001). A cut-off value of 89.0 ms for the Tpe interval on the admission ECG was found to be related to reperfusion success with a sensitivity of 90.9%. Conclusion: The Tpe interval was a predictor for reperfusion success in STEMI patients treated with fibrinolytic agents.
Adrenal Myelolipoma: A Case Presentation
(2018) Kervancioglu, Enis; Hasirci, Eray; Dirim, Ayhan; Aygun, Yuksel Cem; 0000-0002-6232-4313; 0000-0002-4147-2966; 0000-0003-3465-9092; AAM-3015-2021; AAI-7997-2021; AAM-4475-2021
Adrenal myelolipomas are non-functional benign tumors of hematopoietic and mature adipose tissue. Adrenal myelolipomas, which are generally detected in post-mortem examinations, have become more detectable thanks to evolution and frequent use of imaging techniques. This presentation elaborates on a case of 35-year old male patient presenting with no complaint but diagnosed with adrenal myelolipoma in histopathological examination following surrenalectomy operation for an adrenal mass incidentally detected on ultrasonography and computed tomography work-up.
Adult Still's disease: An unusual case with atypical skin and histopathological findings
(2020) Vural, Ayse Tuncer; Ozcan, Deren; Tepeoglu, Merih; 0000-0002-9894-8005; AAK-5222-2021
Adult Still's disease is a rare, acute systemic inflammatory disease characterized by a sudden rising fever, arthralgia/arthritis, neutrophilic leukocytosis and a typical salmon-colored macular or maculopapular rash associated elevated fever. Recently, atypical skin lesions with broad spectrum clinical features and distinctive histopathological findings have been reported in a rare case with active disease. Herein, we report an unusual case of Adult Still disease was presented and the characteristic features of atypical disease were highlighted.
Alcohol- and Cigarette-Use-Related Behaviors Across Gender, Dysfunctional COVID-19 Anxiety, and the Presence of Probable ADHD During the Pandemic: A Cross-Sectional Study in a Sample of Turkish Young Adults
(2021) Evren, Cuneyt; Evren, Bilge; Dalbudak, Ercan; Topcu, Merve; Kutlu, Nilay
Objective: The objective of the study is to evaluate the alcohol-and cigarette-use-related behaviors among young adults during the COVID-19 pandemic restrictions in Turkey. The second objective was to evaluate whether the gender, dysfunctional COVID-19 anxiety, and presence of probable attention-deficit/hyperactivity disorder (ADHD) are associated with the increase in alcohol consumption and cigarette smoking while controlling the effects of current age and diagnosis of anxiety disorder before the COVID-19 pandemic. Method: The study was conducted with an online survey among volunteer participants of young adults. The Adult ADHD Self Report Scale (ASRS-v1.1) and the Coronavirus Anxiety Scale (CAS) were used to evaluate a group of university students. Results: A total of 1,042 respondents (mean age 26.9 +/- 10.9 years; 61.6% female) filled out the survey. Of these, 17.6% reported an increase and 7.7% reported reduced cigarette smoking, whereas 10.8% reported an increase and 8.5% reported reduced alcohol consumption during the pandemic. Both rates of increased cigarette smoking and alcohol consumption were higher among males and those with probable ADHD. In the logistic regression analyses, male gender, COVID-19 related dysfunctional anxiety, and presence of probable ADHD were related to the increase in alcohol consumption and cigarette smoking, while the current age and diagnosis of anxiety disorder before the COVID-19 pandemic were not. Conclusion: Findings of the current study may suggest that the pandemic period is related to both anv increase and a reduction of alcohol consumption and cigarette smoking. Males with probable ADHD and higher levels of COVID-19 related dysfunctional anxiety have a higher risk of increasing both alcohol consumption and cigarette smoking.
Altered pulmonary functions due to biomass smoke in a rural population of Turkish women: a descriptive study
(2018) Ozsancak Ugurlu, Aylin; Balcan, Baran; Akan, Selcuk; Ceyhan, Berrin; 30246655; A-4721-2018
Introduction: Wood or other organic sources of fuel are used as source of energy for heating or cooking particularly in developing countries. The aim of the current study was to evaluate the association between biomass exposure time and parameters of pulmonary function tests. Materials and Methods: Four hundred twenty-four consecutive women who lived and exposed to biomass smoke in a small province in Eastern Turkey were involved. This study was performed with women who had come to pulmonology out-patient clinic with symptom of dyspnea. Results: The independent variables assessed in the study patients were age, BMI, starting age of cooking, hours per day and weeks per month spent cooking, and cooking years; the dependent variables were PFT parameters. Ninety-two (21.6%) patients had an obstructive PFT pattern. Sixty-seven (73%) of these patients were classified as GOLD 2 and 25 (27%) patients were classified as GOLD 3. Seventy-five (17.6 %) of the patients had restrictive lung disease; 54 (72%) of these patients were found to have a mild and 21 (27%) had a moderate restrictive pattern. Increased number of years in cooking and to start cooking at younger ages were a risk factors for the development of obstructive and restrictive disease. There was a statistically significant and negative correlation between increased number of years and the value of FEV1 (r=-0.917; p=<0.001), FEV1/FVC (r=-0.739; p<0.001), and FVC (r=-0.906; p<0.001). The median time of cooking required was 23 years for the development of obstruction, and 25 years for restriction, respectively. Conclusion: Cumulative biomass exposure time is associated with impairment in PFT parameters; results in both obstructive and restrictive lung disease. Biomass exposure is a public health problem and pre-cautions should be taken in order to prevent impaired pulmonary functions.